WorldWideScience

Sample records for genetic research

  1. Latest Research: Genetic Links

    Science.gov (United States)

    ... Current Issue Past Issues Feature: Vision Latest Research: Genetic Links Past Issues / Summer 2008 Table of Contents ... inside the eye is a risk factor for glaucoma. Summer 2008 Issue: Volume 3 Number 3 Page ...

  2. Contemporary Genetics for Gender Researchers: Not Your Grandma's Genetics Anymore

    Science.gov (United States)

    Salk, Rachel H.; Hyde, Janet S.

    2012-01-01

    Over the past century, much of genetics was deterministic, and feminist researchers framed justified criticisms of genetics research. However, over the past two decades, genetics research has evolved remarkably and has moved far from earlier deterministic approaches. Our article provides a brief primer on modern genetics, emphasizing contemporary…

  3. Contemporary Genetics for Gender Researchers: Not Your Grandma's Genetics Anymore

    Science.gov (United States)

    Salk, Rachel H.; Hyde, Janet S.

    2012-01-01

    Over the past century, much of genetics was deterministic, and feminist researchers framed justified criticisms of genetics research. However, over the past two decades, genetics research has evolved remarkably and has moved far from earlier deterministic approaches. Our article provides a brief primer on modern genetics, emphasizing contemporary…

  4. Genetic studies in alcohol research

    Energy Technology Data Exchange (ETDEWEB)

    Karp, R.W. [National Institute on Alcohol Abuse and Alcoholism, Rockville, MD (United States)

    1994-12-15

    The National Institute on Alcohol Abuse and Alcoholism (NIAAA) supports research to elucidate the specific genetic factors, now largely unknown, which underlie susceptibility to alcoholism and its medical complications (including fetal alcohol syndrome). Because of the genetic complexity and heterogeneity of alcoholism, identification of the multiple underlying factors will require the development of new study designs and methods of analysis of data from human families. While techniques of genetic analysis of animal behavioral traits (e.g., targeted gene disruption, quantitative trait locus (QTL) mapping) are more powerful that those applicable to humans (e.g., linkage and allelic association studies), the validation of animal behaviors as models of aspects of human alcoholism has been problematic. Newly developed methods for mapping QTL influencing animal behavioral traits can not only permit analyses of human family data to be directly informed by the results of animal studies, but can also serve as a novel means of validating animal models of aspects of alcoholism. 55 refs.

  5. Reverse genetics in ecological research.

    Directory of Open Access Journals (Sweden)

    Jens Schwachtje

    Full Text Available By precisely manipulating the expression of individual genetic elements thought to be important for ecological performance, reverse genetics has the potential to revolutionize plant ecology. However, untested concerns about possible side-effects of the transformation technique, caused by Agrobacterium infection and tissue culture, on plant performance have stymied research by requiring onerous sample sizes. We compare 5 independently transformed Nicotiana attenuata lines harboring empty vector control (EVC T-DNA lacking silencing information with isogenic wild types (WT, and measured a battery of ecologically relevant traits, known to be important in plant-herbivore interactions: phytohormones, secondary metabolites, growth and fitness parameters under stringent competitive conditions, and transcriptional regulation with microarrays. As a positive control, we included a line silenced in trypsin proteinase inhibitor gene (TPI expression, a potent anti-herbivore defense known to exact fitness costs in its expression, in the analysis. The experiment was conducted twice, with 10 and 20 biological replicates per genotype. For all parameters, we detected no difference between any EVC and WT lines, but could readily detect a fitness benefit of silencing TPI production. A statistical power analyses revealed that the minimum sample sizes required for detecting significant fitness differences between EVC and WT was 2-3 orders of magnitude larger than the 10 replicates required to detect a fitness effect of TPI silencing. We conclude that possible side-effects of transformation are far too low to obfuscate the study of ecologically relevant phenotypes.

  6. Consensus statement on genetic research in dementia

    DEFF Research Database (Denmark)

    Rikkert, M.G. Olde; der, V van; Burns, A.

    2008-01-01

    In this article, the authors describe how the European Dementia Consensus Network developed a consensus on research ethics in dementia, taking into account the questions posed by the era of genetic research and its new research methods. The consensus process started with a Delphi procedure...... to analyze relevant stakeholders' positions by describing their statements on the possibilities and limitations of research into genetic determinants of Alzheimer disease and to describe and analyze the moral desirability of genetic research on Alzheimer disease. The conclusions drawn from the Delphi...... procedure fuelled the development of the consensus statement, which is presented in this paper. The consensus statement aims to stimulate ethically acceptable research in the field of dementia and the protection of vulnerable elderly patients with dementia from application of inadequate research methods...

  7. Genetic research in coronary heart disease.

    Science.gov (United States)

    Motulsky, A G

    1984-01-01

    Coronary heart disease research along genetic lines is difficult. Studies in molecular genetics of apolipoprotein and receptor variability appear most promising in the near future. However, unexpected discoveries and methodology may turn up that may completely change the field. Exclusive concentration on lipid research therefore should be avoided. It is likely that most advances will come from carefully designed studies that ask specific questions. Such research design is appropriate not only for laboratory studies but also for clinical and epidemiological investigations. The collaboration of clinicians, biochemists, geneticists, epidemiologists, and statisticians is likely to lead to better understanding of coronary heart disease.

  8. The return of individual research findings in paediatric genetic research.

    Science.gov (United States)

    Hens, Kristien; Nys, Herman; Cassiman, Jean-Jacques; Dierickx, Kris

    2011-03-01

    The combination of the issue of return of individual genetic results/incidental findings and paediatric biobanks is not much discussed in ethical literature. The traditional arguments pro and con return of such findings focus on principles such as respect for persons, autonomy and solidarity. Two dimensions have been distilled from the discussion on return of individual results in a genetic research context: the respect for a participant's autonomy and the duty of the researcher. Concepts such as autonomy and solidarity do not fit easily in the discussion when paediatric biobanks are concerned. Although parents may be allowed to enrol children in minimal risk genetic research on stored tissue samples, they should not be given the option to opt out of receiving important health information. Also, children have a right to an open future: parents do not have the right to access any genetic data that a biobank holds on their children. In this respect, the guidelines on genetic testing of minors are applicable. With regard to the duty of the researcher the question of whether researchers have a more stringent duty to return important health information when their research subjects are children is more difficult to answer. A researcher's primary duty is to perform useful research, a policy to return individual results must not hamper this task. The fact that vulnerable children are concerned, is an additional factor that should be considered when a policy of returning results is laid down for a specific collection or research project.

  9. [Advances in genetic research of cerebral palsy].

    Science.gov (United States)

    Wang, Fang-Fang; Luo, Rong; Qu, Yi; Mu, De-Zhi

    2017-09-01

    Cerebral palsy is a group of syndromes caused by non-progressive brain injury in the fetus or infant and can cause disabilities in childhood. Etiology of cerebral palsy has always been a hot topic for clinical scientists. More and more studies have shown that genetic factors are closely associated with the development of cerebral palsy. With the development and application of various molecular and biological techniques such as chromosome microarray analysis, genome-wide association study, and whole exome sequencing, new achievements have been made in the genetic research of cerebral palsy. Chromosome abnormalities, copy number variations, susceptibility genes, and single gene mutation associated with the development of cerebral palsy have been identified, which provides new opportunities for the research on the pathogenesis of cerebral palsy. This article reviews the advances in the genetic research on cerebral palsy in recent years.

  10. REVIEW OF AQUACULTURE GENETIC RESEARCHES IN THAILAND

    Directory of Open Access Journals (Sweden)

    UTHAIRAT NA-NAKORN

    1992-01-01

    Full Text Available Aquaculture business has been well established in Thailand for more than 40 years. The most recent data indicated a total production of 260 380 tons. Sixty-five percent of the total production came from coastal aquaculture, mainly tiger prawn (Penaeus monodon culture. Other important species for coastal aquaculture are banana prawn (P. merguensis, cockle (Anadara granosa, green mussel (Perna viridis, oyster (Crassostrea belcheri, Saccostrea commercialis, sea bass (Lates calcarifer and grouper (Epinephelus tauvina. Freshwater aquaculture, although produced only 35% of the annual production, provides major protein source for people in rural areas. Important freshwater species are Nile tilapia (Oreochromis niloticus, tawes (Puntius gonionotus, sepat Siam (Trichogasterpectoralis, walking catfish (Glorias spp., stripped catfish (Pangasius sutchi and giant freshwater prawn (Macrobrachium rosenbergii. Optimum aquacultural practises, namely stocking density, nutrition requirement and water quality have been obtained in most cultured species. But genetic approach has not been considered, thus resulting in deterioration in economic traits which might be due to excessive inbreeding (reviewed by Uraiwan 1989 and/or negative selection (Wongsangchan 1985. The history of researches on genetics in aquaculture in Thailand started in 1982 when the aquaculture genetic programme in form of a network has been established at the National Inland Fisheries Institute, Department of Fisheries. This programme was supported by the International Development Research Centre (IDRC, Canada in cooperation with Dalhousie University, Canada (Uraiwan 1989. In the same year a genetic improvement programme aiming at improving economic characters of some economic fish species has been conducted at the Department of Aquaculture, Kasetsart University. Paralelly a course in Fish Genetics has been offered. Since then different approaches of genetics have been applied with final

  11. Genetics Research Discovered in a Bestseller | Poster

    Science.gov (United States)

    By Nancy Parrish, Staff Writer One morning in early January, Amar Klar sat down at his computer and found an e-mail with a curious message from a colleague. While reading a bestselling novel, The Marriage Plot by Jeffrey Eugenides, his colleague, a professor at Princeton University, found a description of research on yeast genetics that was surprisingly similar to Klar’s early research. Even the laboratory in the novel was reminiscent of Cold Spring Harbor Laboratory, where Klar had conducted his research.

  12. Genetics Research Discovered in a Bestseller | Poster

    Science.gov (United States)

    By Nancy Parrish, Staff Writer One morning in early January, Amar Klar sat down at his computer and found an e-mail with a curious message from a colleague. While reading a bestselling novel, The Marriage Plot by Jeffrey Eugenides, his colleague, a professor at Princeton University, found a description of research on yeast genetics that was surprisingly similar to Klar’s early research. Even the laboratory in the novel was reminiscent of Cold Spring Harbor Laboratory, where Klar had conducted his research.

  13. Gordon Research Conference on Genetic Toxicology

    Energy Technology Data Exchange (ETDEWEB)

    Project Director Penelope Jeggo

    2003-02-15

    Genetic toxicology represents a study of the genetic damage that a cell can incur, the agents that induce such damage, the damage response mechanisms available to cells and organisms, and the potential consequences of such damage. Genotoxic agents are abundant in the environment and are also induced endogenously. The consequences of such damage can include carcinogenesis and teratogenesis. An understanding of genetic toxicology is essential to carry out risk evaluations of the impact of genotoxic agents and to assess how individual genetic differences influence the response to genotoxic damage. In recent years, the importance of maintaining genomic stability has become increasingly recognized, in part by the realization that failure of the damage response mechanisms underlies many, if not all, cancer incidence. The importance of these mechanisms is also underscored by their remarkable conservation between species, allowing the study of simple organisms to provide significant input into our understanding of the underlying mechanisms. It has also become clear that the damage response mechanisms interface closely with other aspects of cellular metabolism including replication, transcription and cell cycle regulation. Moreover, defects in many of these mechanisms, as observed for example in ataxia telangiectasia patients, confer disorders with associated developmental abnormalities demonstrating their essential roles during growth and development. In short, while a decade ago, a study of the impact of DNA damage was seen as a compartmentalized area of cellular research, it is now appreciated to lie at the centre of an array of cellular responses of crucial importance to human health. Consequently, this has become a dynamic and rapidly advancing area of research. The Genetic Toxicology Gordon Research Conference is biannual with an evolving change in the emphasis of the meetings. From evaluating the nature of genotoxic chemicals, which lay at the centre of the early

  14. Genetics in psychosomatic medicine : research designs and statistical approaches

    NARCIS (Netherlands)

    McCaffery, Jeanne M.; Snieder, Harold; Dong, Yanbin; de Geus, Eco

    2007-01-01

    It has become increasingly clear that genetic factors influence many of the behaviors and disease endpoints of interest to psychosomatic medicine researchers. There has been increasing interest in incorporating genetic variation markers into psychosomatic research. In this Statistical Corner article

  15. Genetically Encoded Voltage Indicators in Circulation Research.

    Science.gov (United States)

    Kaestner, Lars; Tian, Qinghai; Kaiser, Elisabeth; Xian, Wenying; Müller, Andreas; Oberhofer, Martin; Ruppenthal, Sandra; Sinnecker, Daniel; Tsutsui, Hidekazu; Miyawaki, Atsushi; Moretti, Alessandra; Lipp, Peter

    2015-09-08

    Membrane potentials display the cellular status of non-excitable cells and mediate communication between excitable cells via action potentials. The use of genetically encoded biosensors employing fluorescent proteins allows a non-invasive biocompatible way to read out the membrane potential in cardiac myocytes and other cells of the circulation system. Although the approaches to design such biosensors date back to the time when the first fluorescent-protein based Förster Resonance Energy Transfer (FRET) sensors were constructed, it took 15 years before reliable sensors became readily available. Here, we review different developments of genetically encoded membrane potential sensors. Furthermore, it is shown how such sensors can be used in pharmacological screening applications as well as in circulation related basic biomedical research. Potentials and limitations will be discussed and perspectives of possible future developments will be provided.

  16. Genetically Encoded Voltage Indicators in Circulation Research

    Directory of Open Access Journals (Sweden)

    Lars Kaestner

    2015-09-01

    Full Text Available Membrane potentials display the cellular status of non-excitable cells and mediate communication between excitable cells via action potentials. The use of genetically encoded biosensors employing fluorescent proteins allows a non-invasive biocompatible way to read out the membrane potential in cardiac myocytes and other cells of the circulation system. Although the approaches to design such biosensors date back to the time when the first fluorescent-protein based Förster Resonance Energy Transfer (FRET sensors were constructed, it took 15 years before reliable sensors became readily available. Here, we review different developments of genetically encoded membrane potential sensors. Furthermore, it is shown how such sensors can be used in pharmacological screening applications as well as in circulation related basic biomedical research. Potentials and limitations will be discussed and perspectives of possible future developments will be provided.

  17. Parents' Perspectives on Participating in Genetic Research in Autism

    Science.gov (United States)

    Trottier, Magan; Roberts, Wendy; Drmic, Irene; Scherer, Stephen W.; Weksberg, Rosanna; Cytrynbaum, Cheryl; Chitayat, David; Shuman, Cheryl; Miller, Fiona A.

    2013-01-01

    Genetic research in autism depends on the willingness of individuals with autism to participate; thus, there is a duty to assess participants' needs in the research process. We report on families' motives and expectations related to their participation in autism genetic research. Respondents valued having a genetic result, as it alleviates guilt,…

  18. Ethical aspects of research into Alzheimer disease. A European Delphi Study focused on genetic and non-genetic research.

    NARCIS (Netherlands)

    Vorm, A. van der; Vernooij-Dassen, M.J.F.J.; Kehoe, P.G.; Olde Rikkert, M.G.M.; Leeuwen, E. van; Dekkers, W.J.M.

    2009-01-01

    BACKGROUND: Although genetic research into Alzheimer disease (AD) is increasing, the ethical aspects of this kind of research and the differences between ethical issues related to genetic and non-genetic research into AD have not yet received much attention. OBJECTIVES: (1) To identify and compare

  19. Clinical genetic research 3: Genetics ELSI (Ethical, Legal, and Social Issues) research.

    Science.gov (United States)

    Pullman, Daryl; Etchegary, Holly

    2015-01-01

    ELSI (Ethical, Legal, and Social Issues) is a widely used acronym in the bioethics literature that encompasses a broad range of research areas involved in examining the various impacts of science and technology on society. In Canada, GE3LS (Genetics, Ethical, Economic, Environmental, Legal, Social issues) is the term used to describe ELSI studies. It is intentionally more expansive in that GE3LS explicitly brings economic and environmental issues under its purview. ELSI/GE3LS research has become increasingly important in recent years as there has been a greater emphasis on "translational research" that moves genomics from the bench to the clinic. The purpose of this chapter is to outline a range of ELSI-related work that might be conducted as part of a large scale genetics or genomics research project, and to provide some practical insights on how a scientific research team might incorporate a strong and effective ELSI program within its broader research mandate. We begin by describing the historical context of ELSI research and the development of GE3LS research in the Canadian context. We then illustrate how some ELSI research might unfold by outlining a variety of research questions and the various methodologies that might be employed in addressing them in an area of ELSI research that is encompassed under the term "public engagement." We conclude with some practical pointers about how to build an effective ELSI/GE3LS team and focus within a broader scientific research program.

  20. Genetic Testing and Its Implications: Human Genetics Researchers Grapple with Ethical Issues.

    Science.gov (United States)

    Rabino, Isaac

    2003-01-01

    Contributes systematic data on the attitudes of scientific experts who engage in human genetics research about the pros, cons, and ethical implications of genetic testing. Finds that they are highly supportive of voluntary testing and the right to know one's genetic heritage. Calls for greater genetic literacy. (Contains 87 references.) (Author/NB)

  1. [Research Progress on Genetic Diversity in Animal Parasitic Nematodes].

    Science.gov (United States)

    YIN, Fang-yuan; LI, Fa-cai; ZHAO, Jun-long; HU, Min

    2015-10-01

    The development of molecular genetic markers for parasitic nematodes has significant implications in fundamental and applied research in Veterinary Parasitology. Knowledge on genetic diversity of nematodes would not only provide a theoretical basis for understanding the spread of drug-resistance alleles, but also have implications in the development of nematode control strategies. This review discusses the applications of molecular genetic markers (RFLP, RAPD, PCR-SSCP, AFLP, SSR and mitochondrial DNA) in research on the genetic diversity of parasitic nematodes.

  2. Genetic Modification of Preimplantation Embryos: Toward Adequate Human Research Policies

    OpenAIRE

    Dresser, Rebecca

    2004-01-01

    Citing advances in transgenic animal research and setbacks in human trials of somatic cell genetic interventions, some scientists and others want to begin planning for research involving the genetic modification of human embryos. Because this form of genetic modification could affect later-born children and their offspring, the protection of human subjects should be a priority in decisions about whether to proceed with such research. Yet because of gaps in existing federal policies, embryo mo...

  3. Genetic modification of preimplantation embryos: toward adequate human research policies.

    Science.gov (United States)

    Dresser, Rebecca

    2004-01-01

    Citing advances in transgenic animal research and setbacks in human trials of somatic cell genetic interventions, some scientists and others want to begin planning for research involving the genetic modification of human embryos. Because this form of genetic modification could affect later-born children and their offspring, the protection of human subjects should be a priority in decisions about whether to proceed with such research. Yet because of gaps in existing federal policies, embryo modification proposals might not receive adequate scientific and ethical scrutiny. This article describes current policy shortcomings and recommends policy actions designed to ensure that the investigational genetic modification of embryos meets accepted standards for research on human subjects.

  4. NCBI genetic resources supporting immunogenetic research.

    Science.gov (United States)

    Feolo, M; Helmberg, W; Sherry, S; Maglott, D R

    2000-01-01

    The NCBI creates and maintains a set of integrated bibliographic, sequence, map, structure and other database resources to promote the efficient retrieval of information and the discovery of novel relationships. The connections made between elements of these resources permit researchers to start a search from a wide spectrum of entry points. These multiple dimensions of data can be roughly categorized by primary content as text or bibliographic (PubMed, PubMedCentral, OMIM, LocusLink), sequence (GenBank, Reference Sequence Project (RefSeq), dbSNP, MMDB), protein structure (MMDB) or map position (MapView). They can also becategorized by level of expert curation, which may range from validation of submissions from external groups (GenBank, PubMed, PubMedCentral,), to automatic computation (HomoloGene, UniGene), and to highly reviewed and corrected (LocusLink, MMDB, OMIM, RefSeq). Searches can be made by words (in an article title, key words, sequence annotation, database value, author) by sequence (BLAST or e-PCR against multiple sequence databases), or by map coordinates. By computing or curating bi-directional links between related objects, NCBI can represent content on the genetics, molecular biology, and clinical considerations of interest to immunogeneticists. There is also an emerging resource developed by the NCBI in collaboration with the IHWG devoted to the presentation of MHC data (dbMHC). How dbMHC will augment existing resources at the NCBI is described.

  5. Public preferences and the challenge to genetic research policy.

    Science.gov (United States)

    Dresser, Rebecca

    2014-03-01

    Modern genetic research requires scientists to collect, store, and study DNA samples and health information from thousands of people. Longstanding policy allows researchers to use samples and information without a person's informed consent as long as the person's identity is protected. Under existing policy, researchers must neither disclose study results to interested research participants nor compensate people who contribute to genetic research. Research and ethics experts developed these policy approaches without input from the people whose contributions are essential to the genetic research enterprise. A growing body of evidence shows that many research participants and would-be participants disagree with the current policy approaches. For ethical and practical reasons, participants should have a greater role in determining how genetic research is conducted.

  6. Genetics/Genomics Research in the Central Region

    Science.gov (United States)

    ,

    2006-01-01

    Genetics-based research within the Biological Resources Discipline (BRD) Science Centers in the Central Region incorporates many aspects of the field of genetics. Research activities range from documenting patterns of genetic variation in order to investigate relationships among species, populations and individuals to investigating the structure, function and expression of genes and their response to environmental stressors. Research in the broad areas of genetics requires multidisciplinary expertise and specialized equipment and instrumentation. Brief summaries of the capabilities of the five BRD Centers are given below.

  7. [Advance in molecular genetic research on primary congenital glaucoma].

    Science.gov (United States)

    Li, Xiulan; Liu, Haotian; Zhang, Dingding

    2016-04-01

    Primary congenital glaucoma (PCG) is one of the major diseases causing blindness in children, but its pathogenesis has remained unclear. Genetic factors play an important role in the pathogenesis of PCG. Molecular genetics of candidate genes such as CYP1B1, MYOC, LTBP2 and FOXC1 has so far been explored, but no disease-causing gene has been identified. Molecular genetic research on PCG including candidate gene screening and research strategies are reviewed here.

  8. Philosophical Research on Genetically Modified Food

    Directory of Open Access Journals (Sweden)

    Meng Zhang

    2015-02-01

    Full Text Available This study mainly analyzes the essential features of transgenic technology from the angle of philosophy, explaining the essential characteristics of transgenic technology, so as to promote the better development of genetically modified food. With the technical improvement, genetically modified food is no longer strange, which has been applied in the production of our life. Compared with the traditional biological breeding, transgenic food has changed significantly in nature. Trying to meet the basic needs of human beings to achieve the common development of mankind, so as to achieve consensus between the scientific field and consumer is the purpose of exploring the philosophical problems of genetically modified food.

  9. Genetically modified animals and pharmacological research.

    Science.gov (United States)

    Wells, Dominic J

    2010-01-01

    This chapter reviews the use of genetically modified animals and the increasingly detailed knowledge of the genomes of the domestic species. The different approaches to genetic modification are outlined as are the advantages and disadvantages of the techniques in different species. Genetically modified mice have been fundamental in understanding gene function and in generating affordable models of human disease although these are not without their drawbacks. Transgenic farm animals have been developed for nutritionally enhanced food, disease resistance and xenografting. Transgenic rabbits, goats, sheep and cows have been developed as living bioreactors producing potentially high value biopharmaceuticals, commonly referred to as "pharming". Domestic animals are also important as a target as well as for testing genetic-based therapies for both inherited and acquired disease. This latter field may be the most important of all, in the future development of novel therapies.

  10. Insect chromosomes preparing methods for genetic researches

    African Journals Online (AJOL)

    STORAGESEVER

    2009-01-05

    Jan 5, 2009 ... Key words: Fluorescence in situ hybridization (FISH), chromosome staining, g- banding, c – banding, ... accomplished by studying various aspects of the genetics ... is a private method in molecular cytogenetics, due to the.

  11. Philosophical Research on Genetically Modified Food

    OpenAIRE

    2015-01-01

    This study mainly analyzes the essential features of transgenic technology from the angle of philosophy, explaining the essential characteristics of transgenic technology, so as to promote the better development of genetically modified food. With the technical improvement, genetically modified food is no longer strange, which has been applied in the production of our life. Compared with the traditional biological breeding, transgenic food has changed significantly in nature. Trying to meet th...

  12. [Application of genetic diversity in the researches on rodents].

    Science.gov (United States)

    Liu, Zhu; Yang, Chun-Wen; Xu, Yan-Chun; Jin, Zhi-Min; Ma, Jian-Zhang

    2014-02-01

    Genetic diversity is the base of the species diversity and ecosystem diversity, and also the foundation for biological evolution and species differentiation. Furthermore, genetic diversity is important evidence for evaluation of biological resources of nature. The genetic diversity data from a wide variety of rodents have many complex applications. We summarized the application of rodent prevention, the origin and differentiation including evolutionary history of rodents, the potential adaptation of rodents, the dynamics of population and regulatory mechanisms, and the conservation biology of rodents. Researches in the future should focus on the systematic study on the relationships between population dynamics and genetic diversity, and long-term monitoring of genetic diversity of rodents.

  13. Research on Modeling of Genetic Networks Based on Information Measurement

    Institute of Scientific and Technical Information of China (English)

    ZHANG Guo-wei; SHAO Shi-huang; ZHANG Ying; LI Hai-ying

    2006-01-01

    As the basis of network of biology organism, the genetic network is concerned by many researchers.Current modeling methods to genetic network, especially the Boolean networks modeling method are analyzed. For modeling the genetic network, the information theory is proposed to mining the relations between elements in network. Through calculating the values of information entropy and mutual entropy in a case, the effectiveness of the method is verified.

  14. Genetics in eating disorders: extending the boundaries of research

    Directory of Open Access Journals (Sweden)

    Andréa Poyastro Pinheiro

    2006-09-01

    Full Text Available OBJECTIVE: To review the recent literature relevant to genetic research in eating disorders and to discuss unique issues which are crucial for the development of a genetic research project in eating disorders in Brazil. METHOD: A computer literature review was conducted in the Medline database between 1984 and may 2005 with the search terms "eating disorders", "anorexia nervosa", "bulimia nervosa", "binge eating disorder", "family", "twin" and "molecular genetic" studies. RESULTS: Current research findings suggest a substantial influence of genetic factors on the liability to anorexia nervosa and bulimia nervosa. Genetic research with admixed populations should take into consideration sample size, density of genotyping and population stratification. Through admixture mapping it is possible to study the genetic structure of admixed human populations to localize genes that underlie ethnic variation in diseases or traits of interest. CONCLUSIONS: The development of a major collaborative genetics initiative of eating disorders in Brazil and South America would represent a realistic possibility of studying the genetics of eating disorders in the context of inter ethnic groups, and also integrate a new perspective on the biological etiology of eating disorders.

  15. Database tools in genetic diseases research.

    Science.gov (United States)

    Bianco, Anna Monica; Marcuzzi, Annalisa; Zanin, Valentina; Girardelli, Martina; Vuch, Josef; Crovella, Sergio

    2013-02-01

    The knowledge of the human genome is in continuous progression: a large number of databases have been developed to make meaningful connections among worldwide scientific discoveries. This paper reviews bioinformatics resources and database tools specialized in disseminating information regarding genetic disorders. The databases described are useful for managing sample sequences, gene expression and post-transcriptional regulation. In relation to data sets available from genome-wide association studies, we describe databases that could be the starting point for developing studies in the field of complex diseases, particularly those in which the causal genes are difficult to identify.

  16. Taking a Stand: The Genetics Community's Responsibility for Intelligence Research.

    Science.gov (United States)

    Callier, Shawneequa L; Bonham, Vence L

    2015-01-01

    There is a longstanding debate about genetics research into intelligence. Some scholars question the value of focusing on genetic contributions to intelligence in a society where social and environmental determinants powerfully influence cognitive ability and educational outcomes. Others warn that censoring certain research questions, such as inquiries about genetic differences in intellectual potential, compromises academic freedom. Still others view interest in this subject as a corollary to a long and troublesome history of eugenics research. The dawn of a new era in genome sequencing as a commodity will sustain scientific interest in the genetics of intelligence for the foreseeable future, but deep-rooted challenges threaten the scientific merit of the research. The use of imprecise definitions of study populations, the difficult nature of studying the environment, and the potential of researcher bias are inextricably linked with concerns about the trustworthiness and utility of research in this area. Leadership by the genetics community is essential to ensure the value and trustworthiness of these studies.

  17. Consent for Genetic Research in the Framingham Heart Study

    Science.gov (United States)

    Levy, Daniel; Splansky, Greta Lee; Strand, Nicolle K.; Atwood, Larry D.; Benjamin, Emelia J.; Blease, Susan; Cupples, L. Adrienne; D’Agostino, Ralph B.; Fox, Caroline S.; Kelly-Hayes, Margaret; Koski, Greg; Larson, Martin G.; Mutalik, Karen M.; Oberacker, Elizabeth; O’Donnell, Christopher J.; Sutherland, Patrice; Valentino, Maureen; Vasan, Ramachandran S.; Wolf, Philip A.; Murabito, Joanne M.

    2010-01-01

    Extensive efforts have been aimed at understanding the genetic underpinnings of complex diseases that affect humans. Numerous genome-wide association studies have assessed the association of genes with human disease; including the Framingham Heart Study (FHS), which genotyped 550,000 SNPs in 9,000 participants. The success of such efforts requires high rates of consent by participants, which is dependent on ethical oversight, communications, and trust between research participants and investigators. To study this we calculated percentages of participants who consented to collection of DNA and to various uses of their genetic information in two FHS cohorts between 2002 and 2009. The data included rates of consent for providing a DNA sample, creating an immortalized cell line, conducting research on various genetic conditions including those that might be considered sensitive, and for notifying participants of clinically significant genetic findings were above 95%. Only with regard to granting permission to share DNA or genetic findings with for-profit companies was the consent rate below 95%. We concluded that the FHS has maintained high rates of retention and consent for genetic research that has provided the scientific freedom to establish collaborations and address a broad range of research questions. We speculate that our high rates of consent have been achieved by establishing frequent and open communications with participants that highlight extensive oversight procedures. Our approach to maintaining high consent rates via ethical oversight of genetic research and communication with study participants is summarized in this report and should be of help to other studies engaged in similar types of research. PMID:20425830

  18. Mendelian Genetics: Paradigm, Conjecture, or Research Program.

    Science.gov (United States)

    Oldham, V.; Brouwer, W.

    1984-01-01

    Applies Kuhn's model of the structure of scientific revolutions, Popper's hypothetic-deductive model of science, and Lakatos' methodology of competing research programs to a historical biological episode. Suggests using Kuhn's model (emphasizing the nonrational basis of science) and Popper's model (emphasizing the rational basis of science) in…

  19. Mendelian Genetics: Paradigm, Conjecture, or Research Program.

    Science.gov (United States)

    Oldham, V.; Brouwer, W.

    1984-01-01

    Applies Kuhn's model of the structure of scientific revolutions, Popper's hypothetic-deductive model of science, and Lakatos' methodology of competing research programs to a historical biological episode. Suggests using Kuhn's model (emphasizing the nonrational basis of science) and Popper's model (emphasizing the rational basis of science) in…

  20. Genetic research: who is at risk for alcoholism.

    Science.gov (United States)

    Foroud, Tatiana; Edenberg, Howard J; Crabbe, John C

    2010-01-01

    The National Institute on Alcohol Abuse and Alcoholism (NIAAA) was founded 40 years ago to help elucidate the biological underpinnings of alcohol dependence, including the potential contribution of genetic factors. Twin, adoption, and family studies conclusively demonstrated that genetic factors account for 50 to 60 percent of the variance in risk for developing alcoholism. Case-control studies and linkage analyses have helped identify DNA variants that contribute to increased risk, and the NIAAA-sponsored Collaborative Studies on Genetics of Alcoholism (COGA) has the expressed goal of identifying contributing genes using state-of-the-art genetic technologies. These efforts have ascertained several genes that may contribute to an increased risk of alcoholism, including certain variants encoding alcohol-metabolizing enzymes and neurotransmitter receptors. Genome-wide association studies allowing the analysis of millions of genetic markers located throughout the genome will enable discovery of further candidate genes. In addition to these human studies, genetic animal models of alcohol's effects and alcohol use have greatly advanced our understanding of the genetic basis of alcoholism, resulting in the identification of quantitative trait loci and allowing for targeted manipulation of candidate genes. Novel research approaches-for example, into epigenetic mechanisms of gene regulation-also are under way and undoubtedly will further clarify the genetic basis of alcoholism.

  1. Sports genetics moving forward: lessons learned from medical research.

    Science.gov (United States)

    Mattsson, C Mikael; Wheeler, Matthew T; Waggott, Daryl; Caleshu, Colleen; Ashley, Euan A

    2016-03-01

    Sports genetics can take advantage of lessons learned from human disease genetics. By righting past mistakes and increasing scientific rigor, we can magnify the breadth and depth of knowledge in the field. We present an outline of challenges facing sports genetics in the light of experiences from medical research. Sports performance is complex, resulting from a combination of a wide variety of different traits and attributes. Improving sports genetics will foremost require analyses based on detailed phenotyping. To find widely valid, reproducible common variants associated with athletic phenotypes, study sample sizes must be dramatically increased. One paradox is that in order to confirm relevance, replications in specific populations must be undertaken. Family studies of athletes may facilitate the discovery of rare variants with large effects on athletic phenotypes. The complexity of the human genome, combined with the complexity of athletic phenotypes, will require additional metadata and biological validation to identify a comprehensive set of genes involved. Analysis of personal genetic and multiomic profiles contribute to our conceptualization of precision medicine; the same will be the case in precision sports science. In the refinement of sports genetics it is essential to evaluate similarities and differences between sexes and among ethnicities. Sports genetics to date have been hampered by small sample sizes and biased methodology, which can lead to erroneous associations and overestimation of effect sizes. Consequently, currently available genetic tests based on these inherently limited data cannot predict athletic performance with any accuracy.

  2. Classical and Molecular Genetic Research on General Cognitive Ability.

    Science.gov (United States)

    McGue, Matt; Gottesman, Irving I

    2015-01-01

    Arguably, no psychological variable has received more attention from behavioral geneticists than what has been called "general cognitive ability" (as well as "general intelligence" or "g"), and for good reason. GCA has a rich correlational network, implying that it may play an important role in multiple domains of functioning. GCA is highly correlated with various indicators of educational attainment, yet its predictive utility is not limited to academic achievement. It is also correlated with work performance, navigating the complexities of everyday life, the absence of various social pathologies (such as criminal convictions), and even health and mortality. Although the causal basis for these associations is not always known, it is nonetheless the case that research on GCA has the potential to provide insights into the origins of a wide range of important social outcomes. In this essay, our discussion of why GCA is considered a fundamentally important dimension of behavior on which humans differ is followed by a look at behavioral genetics research on CGA. We summarize behavioral genetics research that has sought to identify and quantify the total contributions of genetic and environmental factors to individual differences in GCA as well as molecular genetic research that has sought to identify genetic variants that underlie inherited effects. © 2015 The Hastings Center.

  3. The role of social networking sites in medical genetics research.

    Science.gov (United States)

    Reaves, Allison Cook; Bianchi, Diana W

    2013-05-01

    Social networking sites (SNS) have potential value in the field of medical genetics as a means of research subject recruitment and source of data. This article examines the current role of SNS in medical genetics research and potential applications for these sites in future studies. Facebook is the primary SNS considered, given the prevalence of its use in the United States and role in a small but growing number of studies. To date, utilization of SNS in medical genetics research has been primarily limited to three studies that recruited subjects from populations of Facebook users [McGuire et al. (2009); Am J Bioeth 9: 3-10; Janvier et al. (2012); Pediatrics 130: 293-298; Leighton et al. (2012); Public Health Genomics 15: 11-21]. These studies and a number of other medical and public health studies that have used Facebook as a context for recruiting research subjects are discussed. Approaches for Facebook-based subject recruitment are identified, including paid Facebook advertising, snowball sampling, targeted searching and posting. The use of these methods in medical genetics research has the potential to facilitate cost-effective research on both large, heterogeneous populations and small, hard-to-access sub-populations.

  4. Simple genetics language as source of miscommunication between genetics researchers and potential research participants in informed consent documents.

    Science.gov (United States)

    Morgenstern, Justin; Hegele, Robert A; Nisker, Jeff

    2015-08-01

    Informed consent is based on communication, requiring language to convey meanings and ensure understandings. The purpose of this study was to investigate the use of language in informed consent documents used in the genetics research funded by Canadian Institutes of Health Research and Genome Canada. Consent documents were requested from the principal investigators in a recent round of funding. A qualitative content analysis was performed, supported by NVivo7™. Potential barriers to informed consent were identified, including language that was vague and variable, words with both technical and common meanings, novel phrases without clear meaning, a lack of definitions, and common concepts that assume new definitions in genetics research. However, we noted that difficulties in comprehension were often obscured because the words used were generally simple and familiar. We conclude that language gaps between researcher and potential research participants may unintentionally impair comprehension and ultimately impair informed consent in genomics research. © The Author(s) 2014.

  5. The Fungal Genetics Stock Center: a repository for 50 years of fungal genetics research

    Indian Academy of Sciences (India)

    K McCluskey; A Wiest; M Plamann

    2010-03-01

    The Fungal Genetics Stock Center (FGSC) was established in 1960 to ensure that important strains used in early genetics research were available to subsequent generations of fungal geneticists. Originally, only mutant strains were held. At present, any organism that has had its genome sequenced is a genetic system and so the FGSC has added many new organisms. The FGSC is well integrated in its core community and, as research came to depend on cloned genes, vectors and gene libraries, the FGSC included these materials. When the community expanded to include plant and human pathogens, the FGSC adopted these systems as well. Wild isolates from around the world have also proven instrumental in answering important questions. The FGSC holds tremendous diversity of the Neurospora species, which form the core of the collection. The growth in the number of strains distributed illustrates the growth in research on fungi. Because of its position near the centre of the fungal genetics effort, the FGSC is also the first to see trends in research directions. One recent example is the 300% jump in requests for strains of Neurospora crassa carrying a mutation that makes them sensitive to high salt concentration. These strains were seldom requested over many years, but became among our most popular resources following the demonstration of their utility in studying fungicide resistance. This exemplifies why materials need to be preserved without regard to their immediate perceived value and reinforces the need for long-term support for preservation of a broad variety of genetic resources.

  6. Psychiatric genetic research at the National Institute of Mental Health

    Energy Technology Data Exchange (ETDEWEB)

    Berg, K.; Mullican, C.; Maestri, N. [NIMH/NIH, Rockville, MD (United States)] [and others

    1994-12-15

    For some time it has been known through the results of family, twin, and adoption studies that hereditary appears to play a significant casual role in many mental disorders, including schizophrenia, bipolar disorder, and other mood disorders, Alzheimer`s Disease, panic disorder, obsessive compulsive disorder, autism, dyslexia, and Tourette`s syndrome. The precise patterns of inheritance of these complex disorders have not been determined, nor have the relevant genes been localized or cloned. Because the genetics are complex and because there is also clearly an environmental contribution to behavior, we expect the analysis of the genetics of mental illness to be arduous and not quickly resolved. There are several compelling reasons to continue to focus our attention on uncovering the genetic factors for severe mental illness. Prominent among these are the implications for better treatment of mental disorders. The National Institute of Mental Health supports a wide range of studies on psychiatric genetic research. 16 refs.

  7. Can Research on the Genetics of Intelligence Be "Socially Neutral"?

    Science.gov (United States)

    Roberts, Dorothy

    2015-01-01

    The history of research on the genetics of intelligence is fraught with social bias. During the eugenics era, the hereditary theory of intelligence justified policies that encouraged the proliferation of favored races and coercively stemmed procreation by disfavored ones. In the 1970s, Berkeley psychologist Arthur Jensen argued that black students' innate cognitive inferiority limited the efficacy of federal education programs. The 1994 controversial bestseller The Bell Curve, by Richard J. Herrnstein and Charles Murray, rehashed the claim that race and class disparities stem from immutable differences in inherited intelligence, which could not be eliminated through social interventions. Today most scientists studying the genetics of intelligence distance themselves from this history of social bias by arguing that their research need not investigate intellectual differences between social groups. Rather, they argue, examining the heritability of intelligence can be socially neutral and may even help to reduce social inequities. I argue, however, that research on the genetics of intelligence cannot be socially neutral. Even if we divorce the heritability of intelligence from a eugenicist mission, measuring intelligence remains useful only as a gage of individuals' appropriate positions in society. Research into the genetics of intelligence ultimately helps to determine individuals' inherited capacity for particular social positions, even when researchers aim to modify the effects of inheritance.

  8. Field-based phenomics for plant genetics research

    Science.gov (United States)

    Perhaps the greatest challenge for crop research in the 21st century is how to predict crop performance as a function of genetic architecture and climate change. Advances in “next generation” DNA sequencing have greatly reduced genotyping costs. Methods for characterization of plant traits (phenotyp...

  9. Opinions of children about participation in medical genetic research

    NARCIS (Netherlands)

    Pal, S.M. van der; Sozanska, B.; Madden, D.; Kosmeda, A.; Debinska, A.; Danielewicz, H.; Boznanski, A.; Detmar, S.

    2011-01-01

    Aims: The objective was to evaluate children's opinions about their participation in a large research project. Methods: Polish children between 6 and 14 years of age completed a questionnaire about their participation in the Polish Gabriel study (which aims to identify genetic and environmental caus

  10. Opinions of children about participation in medical genetic research

    NARCIS (Netherlands)

    Pal, S.M. van der; Sozanska, B.; Madden, D.; Kosmeda, A.; Debinska, A.; Danielewicz, H.; Boznanski, A.; Detmar, S.

    2011-01-01

    Aims: The objective was to evaluate children's opinions about their participation in a large research project. Methods: Polish children between 6 and 14 years of age completed a questionnaire about their participation in the Polish Gabriel study (which aims to identify genetic and environmental

  11. Research and Conservation of Forest Genetic Resources in China

    Institute of Scientific and Technical Information of China (English)

    2002-01-01

    The present situation of forest tree genetic germplasm resources research and conservation in China is introduced which including the background, decision-making of conservation strategies and principles, the plan of area division and tree species classification, the sample strategy of germplasm conservation, the advances in conservation pattern and related technologies research, the achievements of germplasm conservation and utilization in China, and the problems to be solved. The recent achievements a...

  12. Impact of Molecular Genetic Research on Peanut Cultivar Development

    Directory of Open Access Journals (Sweden)

    Baozhu Guo

    2011-12-01

    Full Text Available Peanut (Arachis hypogaea L. has lagged other crops on use of molecular genetic technology for cultivar development in part due to lack of investment, but also because of low levels of molecular polymorphism among cultivated varieties. Recent advances in molecular genetic technology have allowed researchers to more precisely measure genetic polymorphism and enabled the development of low density genetic maps for A. hypogaea and the identification of molecular marker or QTL’s for several economically significant traits. Genomic research has also been used to enhance the amount of genetic diversity available for use in conventional breeding through the development of transgenic peanut, and the creation of TILLING populations and synthetic allotetraploids. Marker assisted selection (MAS is becoming more common in peanut cultivar development programs, and several cultivar releases are anticipated in the near future. There are also plans to sequence the peanut genome in the near future which should result in the development of additional molecular tools that will greatly advance peanut cultivar development.

  13. Genetic eye research in Tasmania: a historical overview.

    Science.gov (United States)

    Mackey, David A

    2012-03-01

    Although considerable recent work on hereditary eye diseases in Tasmanian families has been published, much of this depended on a century of meticulous pedigree collection by earlier clinical researchers. This article reviews some of the historical papers and the importance they have played in gene discovery and understanding of ophthalmic genetics. Tasmanian families have contributed to the identification of genes for X-linked megalocornea, Leber's hereditary optic neuropathy, retinitis pigmentosa, congenital cataract, ptosis, keratoconus, glaucoma and myopia. The true value of the Tasmanian pedigrees will be realized with the translation of genetic discoveries into early diagnosis and treatment for these eye diseases.

  14. [Research advances on medical genetics in China in 2015].

    Science.gov (United States)

    Li, Yuanfeng; Han, Yubo; Cao, Pengbo; Meng, Jinfeng; Li, Haibei; Qin, Geng; Zhang, Feng; Jin, Guangfu; Yang, Yong; Wu, Lingqian; Ping, Jie; Zhou, Gangqiao

    2016-05-01

    Steady progress has been achieved in the medical genetics in China in 2015, as numerous original researches were published in the world's leading journals. Chinese scientists have made significant contributions to various fields of medical genetics, such as pathogenicity of rare diseases, predisposition of common diseases, somatic mutations of cancer, new technologies and methods, disease-related microRNAs (miRNAs), disease-related long non-coding RNAs (lncRNAs), disease-related competing endogenous RNAs (ceRNAs), disease-related RNA splicing and molecular evolution. In these fields, Chinese scientists have gradually formed the tendency, from common variants to rare variants, from single omic analyses to multipleomics integration analyses, from genetic discovery to functional confirmation, from basic research to clinical application. Meanwhile, the findings of Chinese scientists have been drawn great attentions of international peers. This review aims to provide an overall picture of the front in Chinese medical genetics, and highlights the important findings and their research strategy.

  15. Research and Technology Development for Genetic Improvement of Switchgrass

    Energy Technology Data Exchange (ETDEWEB)

    Kausch, Albert [Univ. of Rhode Island, Kingston, RI (United States); Rhodes, Richard [Univ. of Rhode Island, Kingston, RI (United States)

    2017-05-02

    This research adds to the understanding of switchgrass genetics and the increasing of biomass relevant to production of bioenergy. Switchgrass, Panicum virgatum L., and its related species are well known as potential bioenergy crops since the early 1990s. There are global economic, political, US national security and environmental pressures to increase renewable biofuel production and utilization to offset gasoline and diesel fuel use and climate change, especially in the liquid fuel transportation sector. To realize the potential of bioenergy crops, rapid genetic improvement of the most promising perennial grass feedstocks, such as switchgrass, are anticipated by current genomics, association genetics, marker assisted breeding, hybrid plant development, advanced tissue culture, conventional genetics and other approaches to increase yield, processability, and regional adaptation. The technical effectiveness and economic feasibility of the methods or techniques investigated are demonstrated by several publications, presentations and patents produced as an outcome and deliverable of this research. This project is of a broad benefit to the public not only through the dissemination of this information but also to the development of new methods which will be applied to future bioenergy crop improvement as well as other crops.

  16. Consent for Genetic Research in the Framingham Heart Study

    OpenAIRE

    2010-01-01

    Extensive efforts have been aimed at understanding the genetic underpinnings of complex diseases that affect humans. Numerous genome-wide association studies have assessed the association of genes with human disease; including the Framingham Heart Study (FHS), which genotyped 550,000 SNPs in 9,000 participants. The success of such efforts requires high rates of consent by participants, which is dependent on ethical oversight, communications, and trust between research participants and investi...

  17. Behavioral genetics and evolutionary psychology: unified perspective on personality research.

    Science.gov (United States)

    Segal, N L; MacDonald, K B

    1998-04-01

    Behavioral geneticists and evolutionary psychologists have generally pursued human behavioral analyses with little theoretical or methodological exchange. However, significant benefits might accrue from increased communication between these disciplines. The primary goals of this article are (1) to identify meaningful junctures between behavioral genetics and evolutionary psychology, (2) to describe behavioral genetic research designs and their applications to evolutionary analyses, and (3) to reassess current personality research in light of behavioral genetic and evolutionary concepts and techniques. The five-factor model of personality is conceptualized as subsuming variation in normative species-typical systems with adaptive functions in the human environment of evolutionary adaptation. Considered as universal evolved mechanisms, personality systems are often seen in dynamic conflict within individuals and as highly compartmentalized in their functioning between settings. However, genetically influenced individual differences in personality may also be understood within an evolutionary framework. Studies of the heritability of personality traits indicate broad-sense heritabilities in the 0.40-0.50 range with evidence of substantial nonadditive genetic variation and nonshared environmental influences. Evidence indicates that evolutionary theory (e.g., inclusive fitness theory) predicts patterns of social interaction (e.g., cooperation and bereavement) in relatives. Furthermore, variation in personality may constitute a range of viable strategies matching the opportunities available in the complex niche environment of human societies. Within this wide range of viable strategies, personality variation functions as a resource environment for individuals in the sense that personality variation is evaluated according to the interests of the evaluator (e.g., friendships, coalitions, or mate choice).

  18. Astonishing advances in mouse genetic tools for biomedical research.

    Science.gov (United States)

    Kaczmarczyk, Lech; Jackson, Walker S

    2015-01-01

    The humble house mouse has long been a workhorse model system in biomedical research. The technology for introducing site-specific genome modifications led to Nobel Prizes for its pioneers and opened a new era of mouse genetics. However, this technology was very time-consuming and technically demanding. As a result, many investigators continued to employ easier genome manipulation methods, though resulting models can suffer from overlooked or underestimated consequences. Another breakthrough, invaluable for the molecular dissection of disease mechanisms, was the invention of high-throughput methods to measure the expression of a plethora of genes in parallel. However, the use of samples containing material from multiple cell types could obfuscate data, and thus interpretations. In this review we highlight some important issues in experimental approaches using mouse models for biomedical research. We then discuss recent technological advances in mouse genetics that are revolutionising human disease research. Mouse genomes are now easily manipulated at precise locations thanks to guided endonucleases, such as transcription activator-like effector nucleases (TALENs) or the CRISPR/Cas9 system, both also having the potential to turn the dream of human gene therapy into reality. Newly developed methods of cell type-specific isolation of transcriptomes from crude tissue homogenates, followed by detection with next generation sequencing (NGS), are vastly improving gene regulation studies. Taken together, these amazing tools simplify the creation of much more accurate mouse models of human disease, and enable the extraction of hitherto unobtainable data.

  19. THE RESEARCH IN FISH GENETICS IN CROATIA AND FORMER YUGOSLAVIA

    Directory of Open Access Journals (Sweden)

    Tomislav Treer

    1994-03-01

    Full Text Available This is a review on fish genetics research in Croatia and former Yugoslavia, based on the analyses of all the articles published in four main journals (Ribarstvo Jugoslavije, Morsko ribarstvo, Ichthyologia and Acta Adriatica since 1945 till disintegration of Yugoslavia in 1991. Most of the papers cover the fields on cytogenetics and hybridization (24 and 13 respectively. Eight papers were on fish selection and five on population genetics. Apart from those, five papers were written by foreign authors. Two groups of researchers from the University of Sarajevo were specially active. One of them lead by B e r b e r o v i ć and S o f r a d ž i j a did extensive work in cytogenetics, analyzing the karyotypes of many fish species, some of them endemic. Another one lead by V u k o v i ć , investigated some natural hybrids and created many of them artificially, particulary among cyprinids. These results are presented in a special table. Contrary to the mountainous Bosnia where this type of research was of systematic and ecologic importance, in Croatia whwrw aquaculture was highly developed, the approach was quite different. The scientists from the University of Zagreb, H a b e k o v i ć and T u r k , studied the hybridization and selection of important cultured cyprinids. Apart from these scientific groups, many papers were published by A l - S a b t i , who later became world famous in fish cytogenetics. The works of many other authors who contributed with papers in different fields of fish genetics are also described.

  20. Research on human genetics in Iceland. Progress report

    Energy Technology Data Exchange (ETDEWEB)

    None

    1980-10-31

    Records of the Icelandic Population are being used to investigate the possible inheritance of disabilities and diseases as well as other characters and the effect of environment on man. The progress report of research covers the period 1977 to 1980. The investigation was begun in 1965 by the Genetical Committee of the University of Iceland and the materials used are demographic records from the year 1840 to present and various medical information. The records are being computerized and linked together to make them effective for use in hereditary studies.

  1. Progress report on research on human genetics in Iceland

    Energy Technology Data Exchange (ETDEWEB)

    None

    1980-10-31

    Records of the Icelandic population are being used to investigate the possible inheritance of disabilities and diseases as well as other characteristics and the effect of environment on man. The progress report of research covers the period from 1977 to 1980. The investigation was begun in 1965 by the Genetical Committee of the University of Iceland and the materials used are demographic records from the year 1840 to present and various medical information. The records are being computerized and linked together to make them effective for use in hereditary studies.

  2. Research progress in the genetics of hyperuricaemia and gout.

    Science.gov (United States)

    Min, Zheng; Junwu, Ma

    2016-04-01

    Gout is one of the most common inflammatory arthritis caused by hyperuricaemia, which is affected by both genetic factors and environmental factors. Early researches show that a few of rare monogenic mutations, such as PRPS1 and HPRT1 mutations, lead to abnormal purine anabolism and then cause hyperuricaemia and gout. In recent years, genome-wide association studies (GWAS) have identified dozens of susceptibility loci and/or candidate genes associated with hyperuricemia and gout. Loss-of-function mutations in SLC2A9, SLC22A11, and SLC22A12 cause hereditary hypouricaemia, while their overexpression may increase the reabsorption of uric acid. In contrast, loss-of-function mutations in ABCG2, SLC17A1, and SLC17A3 cause urate underexcretion of renal and intestinal. These variations leading to blood uric acid excretion disorder (excess reabsorption and underexcretion) are the main genetic factors affecting hyperuicemia and gout. Moreover, to some degree, inhibins-activins growth factor system, transcription factors, cytoskeleton and gene-environment interaction can also affect the level of blood uric acid. In addition, two risk genes, RFX3 and KCNQ1, which might impair immune response and lead to functional deficiency of beta cell were recently discovered to influence hyperuiceamia and gout in Han Chinese. This paper systematically reviews genetic studies on hyperuricaemia and gout to improve our understanding of pathogenesis of hyperuricaemia and gout.

  3. Can Genetics Research Benefit Educational Interventions for All?

    Science.gov (United States)

    Asbury, Kathryn

    2015-01-01

    Pretty much everyone knows that our genes have at least something to do with how able or how high achieving we are. Some believe that we should not speak of this common knowledge, nor inquire into how genetic influence works or what it might mean. If we do not keep an open mind to the fact of genetic influence on academic achievement, however, then we cannot explore its possible implications. And if we do not consider the implications, then we cannot, as a society, harness any potential benefits or avoid possible pitfalls. So that's what this essay is about-exploring what behavioral genetics research might be able to offer to educational theory, policy, and practice. We cannot yet use biological information to make accurate predictions for all children. We do know, however, that academic achievement is heritable, which is to say that differences between individuals are influenced by differences in their DNA. If genes are part of the problem for some pupils (to take the negative spin on this), then it seems likely that studying them could be part of a solution. And that's what behavioral geneticists are trying to do-to chart and understand pathways from DNA to behavior and to identify interventions that can maximize outcomes for all. The fact is, though, that we have an awfully long way to go. © 2015 The Hastings Center.

  4. Research advances on animal genetics in China in 2015.

    Science.gov (United States)

    Bo, Zhang; Xiaofang, Chen; Xun, Huang; Xiao, Yang

    2016-06-20

    -wide genetic basis of the species-specific physiological and pathological characteristics as well as their adaptation to environmental conditions. In this review, we make a first attempt to summarize the research advances on animal genetics in China in 2015, with an emphasis on the achievements led by Chinese scientists and carried out in Chinese institutions. We will briefly discuss the significance of their research and contributions of Chinese scientists in animal genetics.

  5. The State of Federal Research Funding in Genetics as Reflected by Members of the Genetics Society of America.

    Science.gov (United States)

    Rine, Jasper; Fagen, Adam P

    2015-08-01

    Scientific progress runs on the intellect, curiosity, and passion of its practitioners fueled by the research dollars of its sponsors. The concern over research funding in biology in general and genetics in particular led us to survey the membership of the Genetics Society of America for information about the federal support of genetics at the level of individual principal investigators. The results paint a mosaic of circumstances-some good, others not so good-that describes some of our present challenges with sufficient detail to suggest useful steps that could address the challenges. Copyright © 2015 by the Genetics Society of America.

  6. Socially responsible genetic research with descendants of the First Australians

    Directory of Open Access Journals (Sweden)

    van Holst Pellekaan Sheila M

    2012-11-01

    Full Text Available Abstract Aboriginal Australians, one of the world’s indigenous peoples now outnumbered through colonization, are the most under-represented in genetic research because they feel that the benefits do not outweigh the social cost of involvement. Descendants of the First Australians have survived a period of European occupation during which time they were dispossessed of land, language and cultural identity resulting in inequities in health, education, and employment opportunities. Compared to Maori and Native American peoples, the ability to form organizations that help to control their affairs is very recent. The desire to control is understandably strong yet the ‘gate-keeping’ role of some organizations risks shifting the control away from smaller communities and has become increasingly politicized. In the past, research practices by Western scientists were poorly presented and have resulted in resistance to proposals that are perceived to have no beneficial outcomes for participants. In this age of advanced technological expertise in genetics, benefits to all humanity are clear to those carrying out research projects, yet not always to those being asked to participate, presenting extra challenges. Excellent guidelines for ethical conduct in research are available to assist researchers, prospective participants, and ethics committees or review boards that approve and monitor procedures. The essence of these guidelines are that research should be carried out with a spirit of integrity, respect, reciprocity, parity, recognition of survival and protection of social and cultural values, a need for control and shared responsibility. Specific Aboriginal organizations, with which researchers need to work to negotiate partnerships, vary within and between Australian states and will always expect Aboriginal personnel to be involved. People experienced in the consultation process are necessary as part of a team. By working patiently through lengthy

  7. Genetic resources offer efficient tools for rice functional genomics research.

    Science.gov (United States)

    Lo, Shuen-Fang; Fan, Ming-Jen; Hsing, Yue-Ie; Chen, Liang-Jwu; Chen, Shu; Wen, Ien-Chie; Liu, Yi-Lun; Chen, Ku-Ting; Jiang, Mirng-Jier; Lin, Ming-Kuang; Rao, Meng-Yen; Yu, Lin-Chih; Ho, Tuan-Hua David; Yu, Su-May

    2016-05-01

    Rice is an important crop and major model plant for monocot functional genomics studies. With the establishment of various genetic resources for rice genomics, the next challenge is to systematically assign functions to predicted genes in the rice genome. Compared with the robustness of genome sequencing and bioinformatics techniques, progress in understanding the function of rice genes has lagged, hampering the utilization of rice genes for cereal crop improvement. The use of transfer DNA (T-DNA) insertional mutagenesis offers the advantage of uniform distribution throughout the rice genome, but preferentially in gene-rich regions, resulting in direct gene knockout or activation of genes within 20-30 kb up- and downstream of the T-DNA insertion site and high gene tagging efficiency. Here, we summarize the recent progress in functional genomics using the T-DNA-tagged rice mutant population. We also discuss important features of T-DNA activation- and knockout-tagging and promoter-trapping of the rice genome in relation to mutant and candidate gene characterizations and how to more efficiently utilize rice mutant populations and datasets for high-throughput functional genomics and phenomics studies by forward and reverse genetics approaches. These studies may facilitate the translation of rice functional genomics research to improvements of rice and other cereal crops.

  8. Advances in Research on Genetically Engineered Plants for Metal Resistance

    Institute of Scientific and Technical Information of China (English)

    Ri-Qing Zhang; Chun-Fang Tang; Shi-Zhi Wen; Yun-Guo Liu; Ke-Lin Li

    2006-01-01

    The engineering application of natural hyperaccumulators in removing or inactivating metal pollutants from soil and surface water in field trials mostly presents the insurmountable shortcoming of low efficiency owing to their little biomass and slow growth. Based on further understanding of the molecular mechanism of metal uptake, translocation, and also the separation, identification, and cloning of some related functional genes, this article highlights and summarizes in detail the advances in research on transgenic techniques, such as Agrobacterium tumefaciens-mediated transformation and particle bombardment, in breeding of plants for metal resistance and accumulation, and points out that deepening the development of transgenic plants is one of the efficient approaches to improving phytoremediation efficiency of metal-contaminated environments. From the viewpoint of sustainable development, governments should strengthen support to the development of genetic engineering for metal resistance and accumulation in plants.

  9. Genetic erosion in crops: concept, research results and challenges

    NARCIS (Netherlands)

    Wouw, van de M.J.; Kik, C.; Hintum, van T.J.L.; Treuren, van R.; Visser, L.

    2010-01-01

    The loss of variation in crops clue to the modernization of agriculture has been described as genetic erosion The current paper discusses the different views that exist on the concept of genetic erosion in crops Genetic erosion of cultivated diversity is reflected in a modernization bottleneck in th

  10. Advancing the biobehavioral research of fatigue with genetics and genomics.

    Science.gov (United States)

    Lyon, Debra E; McCain, Nancy L; Pickler, Rita H; Munro, Cindy; Elswick, R K

    2011-09-01

    To examine phenotypic considerations in the study of fatigue and to explore significant issues affecting the extension of biobehavioral research of fatigue by the inclusion of genetic and genomic markers. THEORETICAL ORGANIZATION: Fatigue is a condition that has an adverse effect on quality of life that has been a focus of nursing inquiry. Yet, the study of fatigue has been stymied by the lack of phenotypic clarity. To expand the biobehavioral inquiry of fatigue, phenotypic clarity is needed. In addition, examining genomic factors associated with fatigue may help to elucidate the pathophysiology of fatigue and, in the future, lead to targeted interventions that address the molecular basis of fatigue. Given that nursing has been at the forefront of the study of fatigue, nurse scientists should consider enhancing phenotypic clarity by the development of a case-definition and use of a core measure of fatigue, one that can be augmented by condition- or population-specific measures as needed. Following the establishment of phenotypic clarity, the integration of genomics into biobehavioral research offers an opportunity for further clarity of phenotypes and for theoretical specification of the pathophysiology of conditions such as fatigue. The development of targeted interventions for fatigue depend on a more precise definition of fatigue and a better understanding of the biologic processes that contribute to its development and persistence. © 2011 Sigma Theta Tau International.

  11. Using eggshell membranes as a DNA source for population genetic research

    NARCIS (Netherlands)

    Trimbos, K.B.; Broekman, J.; Kentie, R.; Musters, C.J.M.; Snoo, de G.R.

    2009-01-01

    In the context of population genetic research, a faster and less invasive method of DNA sampling would allow large-scale assessments of genetic diversity and genetic differentiation with the help of volunteer observers. The aim of this study was to investigate the usefulness of eggshell membranes as

  12. Do gender and personality traits (BFI-10) influence attitude towards genetic research?

    DEFF Research Database (Denmark)

    Sudzina, Frantisek

    2016-01-01

    There is a continuing trend of making genetic research commercially available. It is not only 23andme that offers various types of genetic tests anymore. People do not need to rely on doctor's opinion, they can purchase genetic testing kits and test themselves. Unfortunately, not all available te...... tests are reliable; as the case of Theranos showed recently. The paper aims to investigate if there is any impact of gender and of personality traits on attitude towards genetic research. Big Five Inventory is used to measure personality traits.......There is a continuing trend of making genetic research commercially available. It is not only 23andme that offers various types of genetic tests anymore. People do not need to rely on doctor's opinion, they can purchase genetic testing kits and test themselves. Unfortunately, not all available...

  13. [Research of genetics teaching in biological teacher-training specialty].

    Science.gov (United States)

    Zhang, Yu

    2008-02-01

    Genetics is an essential subject of life science, at the same time, it is a required course in the major of biology. Some colleges such as: agriculture, forest, animals, medicine, teacher-training and general college all offer genetics, because of the difference in specialized character and aim of training, genetics has the distinction in the system of knowledge and laying particular emphasis on content. The author seeks how to make genetics well in teaching content, method and so on in biological teacher-training specialty, and puts views.

  14. The role of the genetic counsellor: a systematic review of research evidence.

    Science.gov (United States)

    Skirton, Heather; Cordier, Christophe; Ingvoldstad, Charlotta; Taris, Nicolas; Benjamin, Caroline

    2015-04-01

    In Europe, genetic counsellors are employed in specialist genetic centres or other specialist units. According to the European Board of Medical Genetics, the genetic counsellor must fulfil a range of roles, including provision of information and facilitation of psychosocial adjustment of the client to their genetic status and situation. To evaluate the extent to which genetic counsellors fulfil their prescribed roles, we conducted a systematic review of the published relevant scientific evidence. We searched five relevant electronic databases (Medline, CINAHL, SocIndex, AMED and PsychInfo) using relevant search terms and handsearched four subject-specific journals for research-based papers published in English between 1 January 2000 and 30 June 2013. Of 419 potential papers identified initially, seven satisfied the inclusion criteria for the review. Themes derived from the thematic analysis of the data were: (i) rationale for genetic counsellors to provide care, (ii) appropriate roles and responsibilities and (iii) the types of conditions included in the genetic counsellor caseload. The findings of this systematic review indicate that where genetic counsellors are utilised in specialist genetic settings, they undertake a significant workload associated with direct patient care and this appears to be acceptable to patients. With the burden on genetic services, there is an argument for the increased use of genetic counsellors in countries where they are under-utilised. In addition, roles undertaken by genetic counsellors in specialist genetic settings could be adapted to integrate genetic counsellors into multi-disciplinary teams in other specialisms.

  15. Robotics for recombinant DNA and human genetics research

    Energy Technology Data Exchange (ETDEWEB)

    Beugelsdijk, T.J.

    1990-01-01

    In October of 1989, molecular biologists throughout the world formally embarked on ultimately determining the set of genetic instructions for a human being. Called by some the Manhattan Project'' a molecular biology, pursuit of this goal is projected to require approximately 3000 man years of effort over a 15-year period. The Humane Genome Initiative is a worldwide research effort that has the goal of analyzing the structure of human deoxyribonucleic acid (DNA) and determining the location of all human genes. The Department of Energy (DOE) has designated three of its national laboratories as centers for the Human Genome Project. These are Los Alamos National Laboratory (LANL), Lawrence Livermore National Laboratory (LLNL), and Lawrence Berkeley Laboratory (LBL). These laboratories are currently working on different, but complementary technology development areas in support of the Human Genome Project. The robotics group at LANL is currently working at developing the technologies that address the problems associated with physical mapping. This article describes some of these problems and discusses some of the robotics approaches and engineering tolls applicable to their solution. 7 refs., 8 figs., 1 tab.

  16. Research advances on microbial genetics in China in 2015.

    Science.gov (United States)

    Jianping, Xie; Yubo, Han; Gang, Liu; Linquan, Bai

    2016-09-01

    In 2015, there are significant progresses in many aspects of the microbial genetics in China. To showcase the contribution of Chinese scientists in microbial genetics, this review surveys several notable progresses in microbial genetics made largely by Chinese scientists, and some key findings are highlighted. For the basic microbial genetics, the components, structures and functions of many macromolecule complexes involved in gene expression regulation have been elucidated. Moreover, the molecular basis underlying the recognition of foreign nucleic acids by microbial immune systems was unveiled. We also illustrated the biosynthetic pathways and regulators of multiple microbial compounds, novel enzyme reactions, and new mechanisms regulating microbial gene expression. And new findings were obtained in the microbial development, evolution and population genetics. For the industrial microbiology, more understanding on the molecular basis of the microbial factory has been gained. For the pathogenic microbiology, the genetic circuits of several pathogens were depicted, and significant progresses were achieved for understanding the pathogen-host interaction and revealing the genetic mechanisms underlying antimicrobial resistance, emerging pathogens and environmental microorganisms at the genomic level. In future, the genetic diversity of microbes can be used to obtain specific products, while gut microbiome is gathering momentum.

  17. Major Results and Research Challenges in Cotton Molecular Genetics at CIRAD (France)

    Institute of Scientific and Technical Information of China (English)

    LACAPE Jean-marc; CLAVERIE M; DESSAUW D; GIBAND M; VIOT C

    2008-01-01

    @@ CIRAD (Montpellier,France) develops research activities centered on tropical and sub-tropical agricultural systems.Among others crops,cotton is the focus of a series of research programs in different disciplines from economics to breeding.Major areas in genetics and breeding relate to (1) genetic diversity,(2) eultivar development through classical and molecular breeding,and (3) applied genomics.An important but under-exploited reservoir of genetic diversity exists within the genus Gossypium.

  18. Major Results and Research Challenges in Cotton Molecular Genetics at CIRAD(France)

    Institute of Scientific and Technical Information of China (English)

    LACAPE; Jean-marc; CLAVERIE; M; DESSAUW; D; GIBAND; M; VIOT; C

    2008-01-01

    CIRAD(Montpellier,France) develops research activities centered on tropical and sub-tropical agricultural systems.Among others crops,cotton is the focus of a series of research programs in different disciplines from economics to breeding.Major areas in genetics and breeding relate to(1) genetic diversity,(2) cultivar development through classical and molecular breeding,and(3) applied

  19. The Impact of a Web-Based Research Simulation in Bioinformatics on Students' Understanding of Genetics

    Science.gov (United States)

    Gelbart, Hadas; Brill, Gilat; Yarden, Anat

    2009-01-01

    Providing learners with opportunities to engage in activities similar to those carried out by scientists was addressed in a web-based research simulation in genetics developed for high school biology students. The research simulation enables learners to apply their genetics knowledge while giving them an opportunity to participate in an authentic…

  20. Genetic research and testing in sport and exercise science: a review of the issues.

    Science.gov (United States)

    Wackerhage, Henning; Miah, Andy; Harris, Roger C; Montgomery, Hugh E; Williams, Alun G

    2009-09-01

    This review is based on the BASES position stand on "Genetic Research and Testing in Sport and Exercise Science". Our aims are first to introduce the reader to research in sport and exercise genetics and then to highlight ethical problems arising from such research and its applications. Sport and exercise genetics research in the form of transgenic animal and human association studies has contributed significantly to our understanding of exercise physiology and there is potential for major new discoveries. Researchers starting out in this field will have to ensure an appropriate study design to avoid, for example, statistically underpowered studies. Ethical concerns arise more from the applications of genetic research than from the research itself, which is assessed by ethical committees. Possible applications of genetic research are genetic performance tests or genetic tests to screen, for example, for increased risk of sudden death during sport. The concerns are that genetic performance testing could be performed on embryos and could be used to select embryos for transplantation or abortion. Screening for risk of sudden death may reduce deaths during sporting events but those that receive a positive diagnosis may suffer severe psychological consequences. Equally, it will be almost impossible to keep a positive diagnosis confidential if the individual tested is an elite athlete.

  1. Attitudes of medical students towards human genome research and genetic counselling and testing

    Directory of Open Access Journals (Sweden)

    Schäfer, Mike Steffen

    2005-04-01

    Full Text Available Purpose: The study aimed to describe students' attitudes towards human genome research and towards genetic counselling and testing at cancer patients. The background of this investigation provided the increasing relevance ob human genetics research for clinical practice.Methods: A total of 167 medical students (54% female, aged 24 +/- 2 years from the second phase of their studies were surveyed in obligatory courses at the University of Leipzig, using a standardized questionnaire. Topics of the survey were attitudes towards human genome research and genetic counselling and testing at cancer patients as well as general values and socio-demographic data of the students.Results: The students consider human genome research as relevant and evaluate it positively, mainly based on expectations of medical uses. Genetic counselling and testing at cancer patients as an application of human genetics is also evaluated as important. The students attribute high relevance to clinical procedures for identification of genetic backgrounds for cancer (family history, information about genetic diagnostic. Nevertheless, deficits in their medical education are highlighted und reflected upon: the increased integration of human genetic content into medical curricula is demanded.Discussion: In accordance with the newly formulated „Approbationsordnung für Ärzte", the results suggest that current human genetic development should be more emphasized in medical education. This could be realized by an enlarged ratio of human genetic courses within curricula and by the transformation of these courses from facultative into obligatory.

  2. Ethical issues arising from the participation of children in genetic research.

    Science.gov (United States)

    Burke, Wylie; Diekema, Douglas S

    2006-07-01

    With new tools derived from the Human Genome Project, genetic research is expanding from the study of rare, single gene disorders to the evaluation of genetic contributors to common, complex diseases. Many genetic studies include pediatric participants. The ethical concerns related to pediatric participation in genetic research derive from the study designs commonly employed in gene discovery and from the power accorded to genetic prediction in our society. In both family-based studies and large studies combining genetic and other health-related data, special attention should be placed on recruitment procedures, informed consent, and confidentiality protections. If data repositories are created for long-term use, we recommend re-consent of pediatric participants when they reach adulthood. In addition, the potential for disclosure of individual results should be considered as part of the institutional review of genetic studies, taking into account the validity of research data and the potential that such data could be used in health care. The potential for genetic results to pose harms of personal and group stigma is also a consideration. Because genetic information is often accorded special power in our society, careful attention should be paid to how genetic information is collected and used in research involving pediatric participants.

  3. Participation in Genetic Testing Research Varies by Social Group

    National Research Council Canada - National Science Library

    Hensley Alford, Sharon; McBride, Colleen M; Reid, Robert J; Larson, Eric B; Baxevanis, Andreas D; Brody, Lawrence C

    2011-01-01

    ...: Our primary aim was to evaluate, using a population-based sample of healthy adults, whether gender, race and education status influences interest and participation in a multiplex genetic susceptibility test. Methods...

  4. Beliefs and attitudes towards participating in genetic research – a population based cross-sectional study

    Directory of Open Access Journals (Sweden)

    Kerath Samantha M

    2013-02-01

    Full Text Available Abstract Background Biobanks have the potential to offer a venue for chronic disease biomarker discovery, which would allow for disease early detection and for identification of carriers of a certain predictor biomarker. To assess the general attitudes towards genetic research and participation in biobanks in the Long Island/Queens area of New York, and what factors would predict a positive view of such research, participants from the NSLIJ hospital system were surveyed. Methods Participants were recruited at six hospital centers in the NSLIJ system during the summers of 2009 and again in 2011 (n = 1,041. Those who opted to participate were given a questionnaire containing 22 questions assessing demographics, lifestyle and attitudes towards genetic research. These questions addressed individual participant’s beliefs about the importance of genetic research, willingness to participate in genetic research themselves, and their views on informed consent issues. Results Respondents took a generally positive view of genetic research in general, as well as their own participation in such research. Those with reservations were most likely to cite concerns over the privacy of their medical and genetic information. Those who were married tended to view genetic research as important, while those in the younger age group viewed it as less important. Prior blood donation of respondents was found to be a predictor of their approval for genetic research. Demographic factors were not found to be predictive of personal willingness to participate in genetic research, or of approval for the opt-out approach to consent. Conclusions While respondents were generally inclined to approve of genetic research, and those who disapproved did not do so based on an underlying moral objection to such research, there is a disconnect between the belief in the importance of genetic research and the willingness of individuals to participate themselves. This indicates a

  5. Do gender and personality traits (BFI-10) influence attitude towards genetic research?

    DEFF Research Database (Denmark)

    Sudzina, Frantisek

    2016-01-01

    There is a continuing trend of making genetic research commercially available. It is not only 23andme that offers various types of genetic tests anymore. People do not need to rely on doctor's opinion, they can purchase genetic testing kits and test themselves. Unfortunately, not all available te...... tests are reliable; as the case of Theranos showed recently. The paper aims to investigate if there is any impact of gender and of personality traits on attitude towards genetic research. Big Five Inventory is used to measure personality traits....

  6. Genetics

    Science.gov (United States)

    ... Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... The chromosomes are made up of strands of genetic information called DNA. Each chromosome contains sections of ...

  7. Molecular Genetic Tools and Techniques for Marchantia polymorpha Research.

    Science.gov (United States)

    Ishizaki, Kimitsune; Nishihama, Ryuichi; Yamato, Katsuyuki T; Kohchi, Takayuki

    2016-02-01

    Liverworts occupy a basal position in the evolution of land plants, and are a key group to address a wide variety of questions in plant biology. Marchantia polymorpha is a common, easily cultivated, dioecious liverwort species, and is emerging as an experimental model organism. The haploid gametophytic generation dominates the diploid sporophytic generation in its life cycle. Genetically homogeneous lines in the gametophyte generation can be established easily and propagated through asexual reproduction, which aids genetic and biochemical experiments. Owing to its dioecy, male and female sexual organs are formed in separate individuals, which enables crossing in a fully controlled manner. Reproductive growth can be induced at the desired times under laboratory conditions, which helps genetic analysis. The developmental process from a single-celled spore to a multicellular body can be observed directly in detail. As a model organism, molecular techniques for M. polymorpha are well developed; for example, simple and efficient protocols of Agrobacterium-mediated transformation have been established. Based on them, various strategies for molecular genetics, such as introduction of reporter constructs, overexpression, gene silencing and targeted gene modification, are available. Herein, we describe the technologies and resources for reverse and forward genetics in M. polymorpha, which offer an excellent experimental platform to study the evolution and diversity of regulatory systems in land plants.

  8. [Research progress of genetic engineering on medicinal plants].

    Science.gov (United States)

    Teng, Zhong-qiu; Shen, Ye

    2015-02-01

    The application of genetic engineering technology in modern agriculture shows its outstanding role in dealing with food shortage. Traditional medicinal plant cultivation and collection have also faced with challenges, such as lack of resources, deterioration of environment, germplasm of recession and a series of problems. Genetic engineering can be used to improve the disease resistance, insect resistance, herbicides resistant ability of medicinal plant, also can improve the medicinal plant yield and increase the content of active substances in medicinal plants. Thus, the potent biotechnology can play an important role in protection and large area planting of medicinal plants. In the development of medicinal plant genetic engineering, the safety of transgenic medicinal plants should also be paid attention to. A set of scientific safety evaluation and judgment standard which is suitable for transgenic medicinal plants should be established based on the recognition of the particularity of medicinal plants.

  9. Genetics of alcohol dependence and social work research: do they mix?

    Science.gov (United States)

    Hesselbrock, Michie N; Hesselbrock, Victor M; Chartier, Karen G

    2013-01-01

    Since completion of the mapping of the human genome in early 2000, tremendous progress has been made in the identification of many different genes associated with our health and across diseases. Although social work researchers are not expected to conduct genetic research at the molecular level, it is imperative that we are able to understand the basic genetic findings related to behavioral problems and are able to translate and integrate this information into psychosocial treatment approaches and program development. This article is an introduction and overview of genetic approaches, using studies of the genetics of alcoholism to exemplify important issues. The literature review is not comprehensive and focuses primarily on the Collaborative Study on the Genetics of Alcoholism project as an example of a multidisciplinary and integrative approach to the genetic study of a major health problem often encountered in social work practice.

  10. The 'new genetics' in blood and cardiovascular research: applications to prevention and treatment.

    Science.gov (United States)

    Motulsky, A G

    1984-11-01

    Genetic approaches have become an important component of both fundamental and disease-oriented research. Certain diseases of the blood--the hemoglobinopathies--have been elucidated by the spectacular methods of molecular genetics. Some of these advances have already been incorporated in disease management. Often, common conditions such as coronary heart disease and hypertension show familial aggregation. Genetic analysis of these diseases together with biochemical and molecular methods are likely to be useful for further understanding and ultimate prevention and control.

  11. Neurocognitive-genetic and neuroimaging-genetic research paradigms in schizophrenia and bipolar disorder.

    Science.gov (United States)

    Kurnianingsih, Yoanna Arlina; Kuswanto, Carissa Nadia; McIntyre, Roger S; Qiu, Anqi; Ho, Beng Choon; Sim, Kang

    2011-11-01

    Studies examining intermediate phenotypes such as neurocognitive and neuroanatomical measures along with susceptibility genes are important for improving our understanding of the neural basis of schizophrenia (SZ) and bipolar disorder (BD). In this paper, we review extant studies involving neurocognitive-genetic and neuroimaging-genetic perspectives and particularly related to catechol-O-methyltransferase (COMT), brain-derived neurotrophic factor (BDNF) and neuregulin-1 (NRG1) genes in SZ and BD. In terms of neurocognitive-genetic investigations, COMT and BDNF are the two most studied candidate genes especially in patients with SZ. Whereas BDNF Met carriers perform worse on verbal working memory, problem solving and visuo-spatial abilities, COMT Met carriers perform better in working memory, attention, executive functioning with evidence of genotype by diagnosis interactions including high-risk individuals. In terms of genetic-structural MRI studies, patients with SZ are found to have reductions in the frontal, temporal, parietal cortices, and limbic regions, which are associated with BDNF, COMT, and NRGI genes. Genetic-functional MRI studies in psychotic disorders are sparse, especially with regard to BD. These neurocognitive and neuroimaging findings are associated with genes which are implicated in functional pathways related to neuronal signaling, inter-neuronal communication and neuroplasticity.

  12. Research Review: The Neurobiology and Genetics of Maltreatment and Adversity

    Science.gov (United States)

    McCrory, Eamon; De Brito, Stephane A.; Viding, Essi

    2010-01-01

    The neurobiological mechanisms by which childhood maltreatment heightens vulnerability to psychopathology remain poorly understood. It is likely that a complex interaction between environmental experiences (including poor caregiving) and an individual's genetic make-up influence neurobiological development across infancy and childhood, which in…

  13. FASEB Summer Research Conference. Genetic Recombination and Chromosome Rearrangements

    Energy Technology Data Exchange (ETDEWEB)

    Jinks-Robertson, Sue

    2002-02-01

    The 2001 meeting entitled ''Genetic Recombination and Genome Rearrangements'' was held July 21-26 in Snowmass, Colorado. The goal of the meeting was to bring together scientists using diverse approaches to study all aspects of genetic recombination. This goal was achieved by integrating talks covering the genetics, biochemistry and structural biology of homologous recombination, site-specific recombination, and nonhomologous recombination. The format of the meeting consisted of a keynote address on the opening evening, two formal plenary sessions on each of the four full meeting days, a single afternoon workshop consisting of short talks chosen from among submitted abstracts, and afternoon poster sessions on each of the four full meeting days. The eight plenary session were entitled: (1) Recombination Mechanisms, (2) Prokaryotic Recombination, (3) Repair and Recombination, (4) Site-specific Recombination and Transposition, (5) Eukaryotic Recombination I, (6) Genome Rearrangements, (7) Meiosis, and (8) Eukaryotic Recombination II. Each session included a mix of genetic, biochemical and structural talks; talks were limited to 20 minutes, followed by 10 minutes of very lively, general discussion. Much of the data presented in the plenary sessions was unpublished, thus providing attendees with the most up-to-date knowledge of this rapidly-moving field.

  14. Annual Research Review: Impact of Advances in Genetics in Understanding Developmental Psychopathology

    Science.gov (United States)

    Addington, Anjene M.; Rapoport, Judith L.

    2012-01-01

    It was hoped that diagnostic guidelines for, and treatment of, child psychiatric disorders in DSM-5 would be informed by the wealth of clinical genetic research related to neurodevelopmental disorders. In spite of remarkable advances in genetic technology, this has not been the case. Candidate gene, genome-wide association, and rare copy number…

  15. Genetically determined patozoospermia. Literature review and research results

    Directory of Open Access Journals (Sweden)

    E. E. Bragina

    2015-01-01

    Full Text Available Genetic factors (chromosomal aberrations and point mutations are the cause of infertility in 10–15 % of men with impaired fertility. Homogeneous structural and functional defects in the sperm or the total terato-, asthenozoospermia – rare cases of genetically determined male infertility, are autosomal recessive diseases. Currently, described 4 types of «syndromic» spermopatology. 1. Primary ciliary dyskinesia (PCD in men with total asthenozoospermia. Affects axoneme structures (microtubules, dynein arms, radial spokes. It identified more than 20 chromosomal loci responsible for the development of the PCD. 2. Dysplasia of the fibrous sheath of sperm tail in men with asthenozoospermia. The shortened and thickened sperm tail observed with disorganization of vertical columns and cross ribs of the fibrous sheath. Candidate genes – genes family ACAP. 3. Globozoospermia in men with teratozoospermia characterized by the presence of sperm with round heads, primary lack of acrosome and disorganization middle part of the flagellum. Found mutations or deletions of genes SPATA16, PICK1 and DPY19L2. 4. Syndrome decapitated spermatozoa in men with teratozoospermia (microcephaly. Abnormalities in the spermiogenesis development of connecting part jf the tail and proximal (morphologically normal centrioles.In 2012–2014 years we have studied the ultrastructure of 2267 semen samples of men with impaired fertility. Globozoospermia revealed in 7 patients, dysplasia of the fibrous sheath – 13, decapitated sperm – in one. PCD was revealed in 4 patients (lack of axoneme dynein arms was found in 1 patient, absence of axoneme radial spokes – in 3 patients.The problem of genetically determined patozoospermya must be taken into account when the assisted reproductive technologies practises. There are few cases of successful assisted reproductive technologies with sperm of these patients. We don»t know the etiological factors of syndromic spermopatologe, so

  16. [Research progress on molecular genetics of male homosexuality].

    Science.gov (United States)

    Tu, Dan; Xu, Ruiwei; Zhao, Guanglu; Wang, Binbin; Feng, Tiejian

    2016-08-01

    Sexual orientation is influenced by both environmental factors and biological factors. Family and twin studies have shown that genetic factors play an important role in the formation of male homosexuality. Genome-wide scan also revealed candidate chromosomal regions which may be associated with male homosexuality, but so far no clearly related genes have been found. This article reviews the progress of relevant studies and candidate genes which are related to male homosexuality.

  17. Genetic Discrimination

    Science.gov (United States)

    ... in Genetics Archive Regulation of Genetic Tests Genetic Discrimination Overview Many Americans fear that participating in research ... I) and employment (Title II). Read more Genetic Discrimination and Other Laws Genetic Discrimination and Other Laws ...

  18. [The importance of genealogy applied to genetic research in Costa Rica].

    Science.gov (United States)

    Meléndez Obando, Mauricio O

    2004-09-01

    The extensive development of genealogical studies based on archival documents has provided powerful support for genetic research in Costa Rica over the past quarter century. As a result, several questions of population history have been answered, such as those involving hereditary illnesses, suggesting additional avenues and questions as well. Similarly, the preservation of massive amounts of historical documentation highlights the major advantages that the Costa Rican population offers to genetic research.

  19. Elucidating the etiology of individual differences in parenting: A meta-analysis of behavioral genetic research.

    Science.gov (United States)

    Klahr, Ashlea M; Burt, S Alexandra

    2014-03-01

    Decades of research have indicated the foundational importance of parenting to offspring outcomes during childhood and beyond. Unearthing the specific origins of parenting is therefore a critically important research objective. Extant research on this topic has suggested that parenting behaviors are multidetermined (Belsky, 1984) and are associated with a wide range of contextual and familial characteristics (e.g., ethnicity, community, family financial stress), as well as characteristics of the parents (e.g., personality) and their children (e.g., temperament). Behavioral genetic studies have further indicated that parenting behaviors are in fact heritable-that is, individual differences in parenting are at least partially a function of genetic differences between persons. Critically, however, the estimates of these genetic influences have varied dramatically across studies. It is also unclear how factors such as parent gender, child age, and methodological considerations may impact genetic influences on parenting behavior. In the current set of meta-analyses, we sought to quantitatively synthesize twin and adoption studies (n = 56) examining the etiology of parenting behavior, with the goal of more definitively cataloguing genetic and environmental effects on parenting. Results reveal significant effects of parental genetic makeup on parental behavior, but also highlight the genetic makeup of the child as a particularly prominent source of genetic transmission (via evocative gene-environment correlation). Environmental contributions to parenting also emerged as important, including both shared and nonshared environmental effects. Theoretical implications of these findings are discussed.

  20. Ethical, legal and social issues of genetic studies with African immigrants as research subjects.

    Science.gov (United States)

    Gong, Gordon; Kosoko-Lasaki, Sade; Haynatzki, Gleb; Cook, Cynthia; O'Brien, Richard L; Houtz, Lynne E

    2008-09-01

    There is growing interest in exploring gene-environment interactions in the etiology of diseases in immigrants from sub-Saharan Africa. Our experience working with the Sudanese immigrant population in Omaha, NE, makes clear the pressing need for geneticists and federal and local funding agencies to address the ethical, legal and social implications of genetic research with such vulnerable populations. Our work raises several questions. How does one design research with African immigrant participants to assure it is ethical? Many immigrants may not understand the purposes, risks and benefits involved in research because of low literacy rates, one of the results of civil wars, or concepts of biologic science foreign to their cultures. Is it possible to obtain truly informed consent? Do African immigrants perceive genetic research using them as subjects as racist? Is genetic research on minorities "biopiracy" or "bio-colonialism?" In our experience, some Sudanese immigrants have challenged the legality and ethics of genetic studies with profit-making as an end. We have concluded that it is essential to educate African immigrant or any other non-English-speaking immigrant participants in research using lay language and graphic illustrations before obtaining consent. Cultural proficiency is important in gaining the trust of African immigrants; profit-sharing may encourage their participation in genetic research to benefit all; involvement of African immigrant community leaders in planning, delivery and evaluation using the community-based participatory research approach will facilitate healthcare promotion, health literacy education, as well as genetic research. It is crucial to address the ethical, legal and social implications of genetic studies with African immigrants as research subjects.

  1. Achievement of genetics in plant reproduction research: the past decade for the coming decade.

    Science.gov (United States)

    Suwabe, Keita; Suzuki, Go; Watanabe, Masao

    2010-01-01

    In the last decade, a variety of innovations of emerging technologies in science have been accomplished. Advanced research environment in plant science has made it possible to obtain whole genome sequence in plant species. But now we recognize this by itself is not sufficient to understand the overall biological significance. Since Gregor Mendel established a principle of genetics, known as Mendel's Laws of Inheritance, genetics plays a prominent role in life science, and this aspect is indispensable even in modern plant biology. In this review, we focus on achievements of genetics on plant sexual reproduction research in the last decade and discuss the role of genetics for the coming decade. It is our hope that this will shed light on the importance of genetics in plant biology and provide valuable information to plant biologists.

  2. The historical role of species from the Solanaceae plant family in genetic research.

    Science.gov (United States)

    Gebhardt, Christiane

    2016-12-01

    This article evaluates the main contributions of tomato, tobacco, petunia, potato, pepper and eggplant to classical and molecular plant genetics and genomics since the beginning of the twentieth century. Species from the Solanaceae family form integral parts of human civilizations as food sources and drugs since thousands of years, and, more recently, as ornamentals. Some Solanaceous species were subjects of classical and molecular genetic research over the last 100 years. The tomato was one of the principal models in twentieth century classical genetics and a pacemaker of genome analysis in plants including molecular linkage maps, positional cloning of disease resistance genes and quantitative trait loci (QTL). Besides that, tomato is the model for the genetics of fruit development and composition. Tobacco was the major model used to establish the principals and methods of plant somatic cell genetics including in vitro propagation of cells and tissues, totipotency of somatic cells, doubled haploid production and genetic transformation. Petunia was a model for elucidating the biochemical and genetic basis of flower color and development. The cultivated potato is the economically most important Solanaceous plant and ranks third after wheat and rice as one of the world's great food crops. Potato is the model for studying the genetic basis of tuber development. Molecular genetics and genomics of potato, in particular association genetics, made valuable contributions to the genetic dissection of complex agronomic traits and the development of diagnostic markers for breeding applications. Pepper and eggplant are horticultural crops of worldwide relevance. Genetic and genomic research in pepper and eggplant mostly followed the tomato model. Comparative genome analysis of tomato, potato, pepper and eggplant contributed to the understanding of plant genome evolution.

  3. Unwarranted optimism in media portrayals of genetic research on addiction overshadows critical ethical and social concerns.

    Science.gov (United States)

    Ostergren, Jenny E; Dingel, Molly J; McCormick, Jennifer B; Koenig, Barbara A

    2015-01-01

    The cost of addiction in the United States, in combination with a host of new tools and techniques, has fueled an explosion of genetic research on addiction. Because the media has the capacity to reflect and influence public perception, there is a need to examine how treatments and preventive approaches projected to emerge from addiction genetic research are presented to the public. The authors conducted a textual analysis of 145 news articles reporting on genetic research on addiction from popular print media in the United States and from popular news and medical internet sites. In articles that report on prevention, the media emphasize vaccine development and identifying individuals at genetic risk through population screening. Articles that emphasize treatment often promote current pharmaceutical solutions and highlight the possibility of tailoring treatments to specific genetic variants. The authors raise concerns about the tendency of this coverage to focus on the benefits of pharmaceutical treatments and genetic-based approaches to prevention while neglecting or downplaying potential risks and ethical issues. This analysis suggests a need for more balanced, evidence-based media reporting on the potential outcomes of genetic research.

  4. Reporting genetic results in research studies: summary and recommendations of an NHLBI working group.

    Science.gov (United States)

    Bookman, Ebony B; Langehorne, Aleisha A; Eckfeldt, John H; Glass, Kathleen C; Jarvik, Gail P; Klag, Michael; Koski, Greg; Motulsky, Arno; Wilfond, Benjamin; Manolio, Teri A; Fabsitz, Richard R; Luepker, Russell V

    2006-05-15

    Prospective epidemiologic studies aid in identifying genetic variants associated with diseases, health risks, and physiologic traits. These genetic variants may eventually be measured clinically for purposes of diagnosis, prognosis, and treatment. As evidence of the potential clinical value of such information accrues, research studies face growing pressure to report these results to study participants or their physicians, even before sufficient evidence is available to support widespread screening of asymptomatic persons. There is thus a need to begin to develop consensus on whether and when genetic findings should be reported to participants in research studies. The National Heart, Lung, and Blood Institute (NHLBI) convened a Working Group on Reporting Genetic Results in Research Studies to discuss if, when, and how genetic information should be reported to study participants. The Working Group concluded that genetic test results should be reported to study participants when the associated risk for the disease is significant; the disease has important health implications such as premature death or substantial morbidity or has significant reproductive implications; and proven therapeutic or preventive interventions are available. Finally, the Working Group recommended procedures for reporting genetic research results and encouraged increased efforts to create uniform guidelines for this activity.

  5. Genetic research at a fivefold children's burial from medieval Berlin.

    Science.gov (United States)

    Rothe, Jessica; Melisch, Claudia; Powers, Natasha; Geppert, Maria; Zander, Judith; Purps, Josephine; Spors, Birgit; Nagy, Marion

    2015-03-01

    Berlin originated from the two twin cities Berlin and Cölln, which both were founded at the beginning of the 13th century. However the real date of their foundation as well as the origin of the first settlers is still unknown. On the Berlin site the historic city center is still visible in the Nikolaiviertel, but the medieval origin of Cölln disappeared almost completely. In 2007 a large scale excavation, which comprised an area of about 1700m(2) of the historical center of the St. Peters church, recovers the remains of Cölln's first citizens and span a period of 500 years of medieval population. Here we present the first genetic analysis of a fivefold children's burial from excavations in Berlin. The genetic data unveiled next to ancestry and eye color data also the kinship and the gender of the five individuals. Together with the archeological context the new gained information help to shed more light on the possible reasons for this burial.

  6. Introduction: Special issue on genetic research of alcohol use disorder in diverse racial/ethnic populations.

    Science.gov (United States)

    Chartier, Karen G; Hesselbrock, Michie N; Hesselbrock, Victor M

    2017-08-01

    This special issue of The American Journal on Addictions is an extension of a workshop held at the Research Society on Alcoholism (2015) highlighting several important issues related to studies of the genetic bases of alcohol use disorder among racially/ethnically diverse populations. While not exhaustive in their coverage, the papers in this special issue focus on three important topics: (1) the importance of considering the social and environmental context in genetic analyses; (2) social and cultural considerations for engaging diverse communities in genetic research; and (3) methodologies related to phenotype development for use with racially/ethnically diverse populations. A brief overview of each paper included in these three sections is presented. The issue concludes with additional considerations for genetic research with racially/ethnically diverse population groups along with a commentary. (Am J Addict 2017;26:422-423). © 2017 American Academy of Addiction Psychiatry.

  7. Beliefs in genetic determinism and attitudes towards psychiatric genetic research: psychometric scale properties, construct associations, demographic correlates, and cross-cultural comparisons.

    Science.gov (United States)

    Voracek, Martin; Swami, Viren; Loibl, Lisa Mariella; Furnham, Adrian

    2007-12-01

    Using two new scales, this study examined beliefs in genetic determinism and attitudes towards psychiatric genetic research in student samples from Austria, Malaysia, Romania, and the United Kingdom. For both constructs, effects of culture were detectable, whereas those related to key demographics were either small and inconsistent across samples (political orientation and religiosity) or zero (sex and age). Judged from factorial dimensionality and internal consistency, the psychometric properties of both scales were satisfactory. Belief in genetic determinism had lower prevalence and corresponded only modestly to positive attitudes towards psychiatric genetic research which had higher prevalence. The correlations of both constructs with a preference of inequality among social groups (social dominance orientation) were modest and inconsistent across samples. Both scales appear appropriate for cross-cultural applications, in particular for research into lay theories and public perceptions regarding genetic vs environmental effects on human behavior, mental disorders, and behavioral and psychiatric genetic research related to these.

  8. The concept of human dignity in the ethics of genetic research.

    Science.gov (United States)

    Chan, David K

    2015-05-01

    Despite criticism that dignity is a vague and slippery concept, a number of international guidelines on bioethics have cautioned against research that is contrary to human dignity, with reference specifically to genetic technology. What is the connection between genetic research and human dignity? In this article, I investigate the concept of human dignity in its various historical forms, and examine its status as a moral concept. Unlike Kant's ideal concept of human dignity, the empirical or relational concept takes human dignity as something that is affected by one's circumstances and what others do. I argue that the dignity objection to some forms of genetic research rests on a view of human nature that gives humans a special status in nature - one that is threatened by the potential of genetic research to reduce individuals to their genetic endowment. I distinguish two main philosophical accounts of human nature. One of these, the Aristotelian view, is compatible with the use of genetic technology to help humans realize their inherent potential to a fuller extent.

  9. 量子遗传算法研究现状%Actuality of Research on Quantum Genetic Algorithm

    Institute of Scientific and Technical Information of China (English)

    杨俊安; 庄镇泉

    2003-01-01

    Quantum Genetic Algorithm (QGA)is the combination of quantum computation and genetic algorithm. In this paper, actuality of research on QGA is summarized. QGA and Multi-universe Parallel Quantum Genetic Algorithm (MPQGA)are discussed in detail. Application progenies in respective regions are introduced. The subsequent research on QGA is also prospected.

  10. Engaging Maori in Biobanking and Genetic Research: Legal, Ethical, and Policy Challenges

    Directory of Open Access Journals (Sweden)

    Angela Beaton

    2015-06-01

    Full Text Available Publically funded biobanking initiatives and genetic research should contribute towards reducing inequalities in health by reducing the prevalence and burden of disease. It is essential that Maori and other Indigenous populations share in health gains derived from these activities. The Health Research Council of New Zealand has funded a research project (2012-2015 to identify Maori perspectives on biobanking and genetic research, and to develop cultural guidelines for ethical biobanking and genetic research involving biospecimens. This review describes relevant values and ethics embedded in Maori indigenous knowledge, and how they may be applied to culturally safe interactions between biobanks, researchers, individual participants, and communities. Key issues of ownership, privacy, and consent are also considered within the legal and policy context that guides biobanking and genetic research practices within New Zealand. Areas of concern are highlighted and recommendations of international relevance are provided. To develop a productive environment for "next-generation" biobanking and genomic research,"‘next-generation" regulatory solutions will be required.

  11. Lab to farm: applying research on plant genetics and genomics to crop improvement.

    Science.gov (United States)

    Ronald, Pamela C

    2014-06-01

    Over the last 300 years, plant science research has provided important knowledge and technologies for advancing the sustainability of agriculture. In this Essay, I describe how basic research advances have been translated into crop improvement, explore some lessons learned, and discuss the potential for current and future contribution of plant genetic improvement technologies to continue to enhance food security and agricultural sustainability.

  12. Supporting Learning of High-School Genetics Using Authentic Research Practices: The Teacher's Role

    Science.gov (United States)

    Gelbart, Hadas; Yarden, Anat

    2011-01-01

    In this study we describe the support provided by a biology teacher during learning using a web-based research simulation that makes use of authentic research practices in genetics, including the use of a heuristic strategy to compare mutated and normal versions of a character at all the organisational levels. Authentic scientific practices…

  13. ASSESSMENT OF ALLERGENIC POTENTIAL OF GENETICALLY MODIFIED FOODS: AN AGENDA FOR FUTURE RESEARCH

    Science.gov (United States)

    AbstractSpeakers and participants in the Workshop Assessment of the Allergenic Potential of Genetically Modified Foods met in breakout groups to discuss a number of issues including needs for future research. There was agreement that research should move forward quickly in t...

  14. Supporting Learning of High-School Genetics Using Authentic Research Practices: The Teacher's Role

    Science.gov (United States)

    Gelbart, Hadas; Yarden, Anat

    2011-01-01

    In this study we describe the support provided by a biology teacher during learning using a web-based research simulation that makes use of authentic research practices in genetics, including the use of a heuristic strategy to compare mutated and normal versions of a character at all the organisational levels. Authentic scientific practices…

  15. Genetics Research and Advance on Development and Utilization of Wild Boars

    Institute of Scientific and Technical Information of China (English)

    LIU Chunlong; LIU Di; LI Zhongqiu

    2011-01-01

    Wild boar is one of the most important beast resources. It plays an important role in the maintenance of biological diversity. The genetic resources of wild boar can not only protect the genetic resources, but also improve the formation of new breeds in pigs. This paper summarized the advance on the main biological characteristics of wild boars, evolutionary origin between wild boars and domesticated pigs, and development and utilization of wild boars aimed to provide further insight into wild boar's genetic research and its resource protection.

  16. Progress and Prospects for Genetic Modification of Nonhuman Primate Models in Biomedical Research

    OpenAIRE

    Chan, Anthony W. S.

    2013-01-01

    The growing interest of modeling human diseases using genetically modified (transgenic) nonhuman primates (NHPs) is a direct result of NHPs (rhesus macaque, etc.) close relation to humans. NHPs share similar developmental paths with humans in their anatomy, physiology, genetics, and neural functions; and in their cognition, emotion, and social behavior. The NHP model within biomedical research has played an important role in the development of vaccines, assisted reproductive technologies, and...

  17. Aquaculture genomics, genetics and breeding in the United States: Current status, challenges, and priorities for future research

    Science.gov (United States)

    Advancing the production efficiency and profitability of aquaculture is dependent upon the ability to utilize a diverse array of genetic resources. The ultimate goals of aquaculture genomics, genetics and breeding research are to enhance aquaculture production efficiency, sustainability, product qua...

  18. Wide disparity of clinical genetics services and EU rare disease research funding across Europe.

    Science.gov (United States)

    Lynch, Sally Ann; Borg, Isabella

    2016-04-01

    The origins of clinical genetics services vary throughout Europe with some emerging from paediatric medicine and others from an academic laboratory setting. In 2011, the cross-border patients' rights directive recommended the creation of European Research Networks (ERNs) to improve patient care throughout EU. In 2013, the EU recommendation on the care for rare diseases came into place. The process of designating EU centres of expertise in rare diseases is being implemented to allow centres to enter ERNs. Hence, this is an opportune time to reflect on the current status of genetic services and research funding throughout Europe as 80 % of rare diseases have a genetic origin. Our aims were to determine (a) whether EU countries are prepared in terms of appropriate clinical genetic staffing to fulfil the European Union Committee of Experts on Rare Diseases (EUCERD) criteria that will allow national centres to be designated as centres of expertise, (b) which EU countries are successful in grant submissions to EU rare disease research funding and (c) country of origin of researchers from the EU presenting their research work as a spoken presentation at the European Society of Human Genetics annual conference. Our results show there is wide disparity of staffing levels per head of population in clinical genetics units throughout Europe. EU rare disease research funding is not being distributed equitably and the opportunity to present research is skewed with many countries not achieving spoken presentations despite abstract submissions. Inequity in the care of patients with rare diseases exists in Europe. Many countries will struggle to designate centres of expertise as their staffing mix and levels will not meet the EUCERD criteria which may prevent them from entering ERNs. The establishment of a small number of centres of expertise centrally, which is welcome, should not occur at the expense of an overall improvement in EU rare disease patient care. Caution should be

  19. Genetics behind barbed wire: Masuo Kodani, émigré geneticists, and wartime genetics research at Manzanar relocation center.

    Science.gov (United States)

    Smocovitis, Vassiliki Betty

    2011-02-01

    This article explores the sociopolitical backdrop of genetics research during the politically turbulent decades of the mid-20th century that saw the persecution, displacement, and relocation of unpopular minorities in both the United States and Europe. It explores how geneticists in the United States accommodated these disruptions through formal and informal émigré networks and how the subsequent war affected their research programs and their lives. It does so by focusing on the career and life of geneticist Masuo Kodani, who, as a Japanese American, found himself conducting unexpected cytogenetics research in Manzanar, a "relocation center," or internment camp, located in the California desert, after the attack on Pearl Harbor. After the war, Kodani's subsequent career continued to be shaped by his experiences as a Japanese American and by the specific skills as a cytogeneticist that he demonstrated at a critical period in the history of 20th-century genetics. His many relocations in search of employment culminated in his work with the Atomic Bomb Casualty Commission on human chromosomes, for which he is best known.

  20. Genetic Stock Identification, Annual Report of Research 1986.

    Energy Technology Data Exchange (ETDEWEB)

    Milner, George B.

    1986-12-01

    The results of the first year's investigation of a 5-year plan to demonstrate and develop a coastwide genetic stock identification (GSI) program are presented. The accomplishments under four specific objectives are outlined below: 1. Improved Efficiency through Direct Entry of Electrophoretic Data into the Computer. A program is described that was developed for direct computer entry o f raw data. This program eliminated the need for key- to-tape processing previously required for estimating compositions of mixed fisheries, and thereby permits immediate use of collected data in estimating compositions of stock mixtures. 2. Expand and Strengthen Oregon Coastal and British Columbia Baseline Data Set. Electrophoretic screening of approximately 105 loci of samples from 22 stocks resulted in complete data sets for 35 polymorphic and 19 monomorphic loci. These new data are part of the baseline information currently used in estimating mixed stock compositions. 3. Conduct a Pilot GSI Study of Mixed Stock Canadian Troll Fisheries off the West Coast of Vancouver Island. A predominance of lower Columbia River (fall run), Canadian, and Puget Sound stocks was observed for both 1984 and 1985 fisheries . Stocks other than Columbia River, Canadian, and Puget Sound contributed an estimated 13 and 5 % respectively, to the 1984 and 1985 fisheries . 4. Validation of GSI for Estimating Mixed Fishery Stock Composition. Baseline data from the Columbia River southward were used to simulate nor them and central California fisheries . These simulations provided estimates of accuracy and precision for mixed sample sizes ranging from 250 to 1,000 individuals. Sacramento River stocks had a heavier weighting in the central (89%) than in the northern (25%) fishery. Accuracy and precision increased for both fisheries as sample sizes increased and also were better for those estimates that were over 5%. Extrapolations from these estimates indicated that sample sizes of 2,320 and 2,869 would be

  1. Design and Implementation of the International Genetics and Translational Research in Transplantation Network.

    Science.gov (United States)

    2015-11-01

    Genetic association studies of transplantation outcomes have been hampered by small samples and highly complex multifactorial phenotypes, hindering investigations of the genetic architecture of a range of comorbidities which significantly impact graft and recipient life expectancy. We describe here the rationale and design of the International Genetics & Translational Research in Transplantation Network. The network comprises 22 studies to date, including 16494 transplant recipients and 11669 donors, of whom more than 5000 are of non-European ancestry, all of whom have existing genomewide genotype data sets. We describe the rich genetic and phenotypic information available in this consortium comprising heart, kidney, liver, and lung transplant cohorts. We demonstrate significant power in International Genetics & Translational Research in Transplantation Network to detect main effect association signals across regions such as the MHC region as well as genomewide for transplant outcomes that span all solid organs, such as graft survival, acute rejection, new onset of diabetes after transplantation, and for delayed graft function in kidney only. This consortium is designed and statistically powered to deliver pioneering insights into the genetic architecture of transplant-related outcomes across a range of different solid-organ transplant studies. The study design allows a spectrum of analyses to be performed including recipient-only analyses, donor-recipient HLA mismatches with focus on loss-of-function variants and nonsynonymous single nucleotide polymorphisms.

  2. Recent progress in genetic and epigenetic research on type 2 diabetes.

    Science.gov (United States)

    Kwak, Soo Heon; Park, Kyong Soo

    2016-03-11

    Type 2 diabetes (T2DM) is a common complex metabolic disorder that has a strong genetic predisposition. During the past decade, progress in genetic association studies has enabled the identification of at least 75 independent genetic loci for T2DM, thus allowing a better understanding of the genetic architecture of T2DM. International collaborations and large-scale meta-analyses of genome-wide association studies have made these achievements possible. However, whether the identified common variants are causal is largely unknown. In addition, the detailed mechanism of how these genetic variants exert their effect on the pathogenesis of T2DM requires further investigation. Currently, there are ongoing large-scale sequencing studies to identify rare, functional variants for T2DM. Environmental factors also have a crucial role in the development of T2DM. These could modulate gene expression via epigenetic mechanisms, including DNA methylation, histone modification and microRNA regulation. There is evidence that epigenetic changes are important in the development of T2DM. Recent studies have identified several DNA methylation markers of T2DM from peripheral blood and pancreatic islets. In this review, we will briefly summarize the recent progress in the genetic and epigenetic research on T2DM and discuss how environmental factors, genetics and epigenetics can interact in the pathogenesis of T2DM.

  3. Genetic management of endangered species at the Patuxent Wildlife Research Center

    Science.gov (United States)

    Gabel, R.R.; Gee, G.F.

    1987-01-01

    Summary: The Patuxent Wildlife Research Center conducts one of the world's largest and best-known research programs for captive propagation of endangered wildlife. In order to be effective and to ensure the long-term survival of species, researchers at Patuxent attempt to manage captive populations according to the principles of population genetics. This includes the use of estimated inbreeding levels for mate selections in Masked Bobwhites and biochemical analyses to measure extant genetic material and determine relationships among Whooping Cranes. As added insurance against catastrophic losses, or even random losses of key individuals representing unique lineages, cryopreservation of semen has been studied and used for some species. Artificial insemination, using either stored or fresh semen, is used to improve fertility rates, thereby increasing the chances for survival of unique genetic lines. Finally, a periodic influx of unrelated stock occurs, when feasible, in order to enhance the genetic base of captive populations. The application of these techniques will ensure that future releases utilize genetically viable animals, thereby improving the potential for successful reintroductions into the wild.

  4. Learning from Latino voices: Focus Groups' Insights on Participation in Genetic Research.

    Science.gov (United States)

    Martinez, Priscilla; Cummings, Cory; Karriker-Jaffe, Katherine J; Chartier, Karen G

    2017-08-01

    There is a paucity of genetics research examining alcohol use among Latinos. The purpose of this study is to examine Latino perceptions of participation in alcohol studies that collect biological samples, an important precursor to increasing their participation in genetics research. A synthesis of the literature addressing participation of racial/ethnic minorities in alcohol genetics research was undertaken. We developed a framework of themes related to barriers and facilitators for participation, which we then used to analyze two focus groups held with 18 Latino participants. From the literature review, we identified nine themes related to facilitators of and barriers to participation. They are, on continua: curiosity to disinterest; trust to mistrust; understanding to confusion; safety to danger; inclusion to exclusion; sense of connection to disconnection; hope to despair; ease to hassle; and benefit to cost. Another theme emerged from the focus groups: previous experience to no previous experience with health research. Applying the themes from the literature review to Latino perspectives on providing biological samples for alcohol research helps expand their definition and applicability. Consideration of these themes when designing recruitment/retention materials and strategies may encourage Latino participation in alcohol genetics research. An understanding of these themes and their significance for Latinos is offered in the form of "guiding questions" for researchers to consider as we strive for more inclusive research. Focus group participants were Mexican American; future research should further explore perspectives of this heterogeneous demographic group by studying other Latino subgroups. (Am J Addict 2017;26:477-485). © 2017 American Academy of Addiction Psychiatry.

  5. Genetic influences on adolescent sexual behavior: Why genes matter for environmentally oriented researchers.

    Science.gov (United States)

    Harden, K Paige

    2014-03-01

    There are dramatic individual differences among adolescents in how and when they become sexually active adults, and early sexual activity is frequently cited as a cause of concern for scientists, policymakers, and the general public. Understanding the causes and developmental impact of adolescent sexual activity can be furthered by considering genes as a source of individual differences. Quantitative behavioral genetics (i.e., twin and family studies) and candidate gene association studies now provide clear evidence for the genetic underpinnings of individual differences in adolescent sexual behavior and related phenotypes. Genetic influences on sexual behavior may operate through a variety of direct and indirect mechanisms, including pubertal development, testosterone levels, and dopaminergic systems. Genetic differences may be systematically associated with exposure to environments that are commonly treated as causes of sexual behavior (gene-environment correlation). Possible gene-environment correlations pose a serious challenge for interpreting the results of much behavioral research. Multivariate, genetically informed research on adolescent sexual behavior compares twins and family members as a form of quasi experiment: How do twins who differ in their sexual experiences differ in their later development? The small but growing body of genetically informed research has already challenged dominant assumptions regarding the etiology and sequelae of adolescent sexual behavior, with some studies indicating possible positive effects of teenage sexuality. Studies of Gene × Environment interaction may further elucidate the mechanisms by which genes and environments combine to shape the development of sexual behavior and its psychosocial consequences. Overall, the existence of heritable variation in adolescent sexual behavior has profound implications for environmentally oriented theory and research.

  6. Genetic Influences on Adolescent Sexual Behavior: Why Genes Matter for Environmentally-Oriented Researchers

    Science.gov (United States)

    Harden, K. Paige

    2013-01-01

    There are dramatic individual differences among adolescents in how and when they become sexually active adults, and “early” sexual activity is frequently cited as a cause of concern for scientists, policymakers, and the general public. Understanding the causes and developmental impact of adolescent sexual activity can be furthered by considering genes as a source of individual differences. Quantitative behavioral genetics (i.e., twin and family studies) and candidate gene association studies now provide clear evidence for the genetic underpinnings of individual differences in adolescent sexual behavior and related phenotypes. Genetic influences on sexual behavior may operate through a variety of direct and indirect mechanisms, including pubertal development, testosterone levels, and dopaminergic systems. Genetic differences may be systematically associated with exposure to environments that are commonly treated as causes of sexual behavior (gene-environment correlation). Possible gene-environment correlations pose a serious challenge for interpreting the results of much behavioral research. Multivariate, genetically-informed research on adolescent sexual behavior compares twins and family members as a form of “quasi-experiment”: How do twins who differ in their sexual experiences differ in their later development? The small but growing body of genetically-informed research has already challenged dominant assumptions regarding the etiology and sequelae of adolescent sexual behavior, with some studies indicating possible positive effects of teenage sexuality. Studies of gene × environment interaction may further elucidate the mechanisms by which genes and environments combine to shape the development of sexual behavior and its psychosocial consequences. Overall, the existence of heritable variation in adolescent sexual behavior has profound implications for environmentally-oriented theory and research. PMID:23855958

  7. Legal limitations on genetic research and the commercialisation of its results

    NARCIS (Netherlands)

    Schellekens, M.H.M.; van van Erp, J.H.M.; van van Vliet, L.P.W.

    2006-01-01

    Developments in genetics hold a strong promise for future possibilities in the cure of diseases and the prevention of health hazards. Research by Groningen University has e.g. brought to light that presently unknown mutations of alleles on the fifth chromosome make children susceptible to the

  8. Toward Evidence-Based Genetic Research on Lifelong Premature Ejaculation: A Critical Evaluation of Methodology

    Science.gov (United States)

    2011-01-01

    Recently, four premature ejaculation (PE) subtypes have been distinguished on the basis of the duration of the intravaginal ejaculation latency time (IELT). These four PE subtypes have different etiologies and pathogeneses. Genetic research on PE should consider the existence of these PE subtypes and the accurate measurement of the IELT with a stopwatch. Currently, three methods of genetic research on PE have been used. They differ in the investigated population, tool of measurement, study design, and variables of PE. From animal and human research, it is derived that the central serotonergic system "modulates" ejaculation, whereas the ejaculation (reflex) itself is probably not under direct influence of the serotonergic system, but rather under the influence of other neurotransmitter systems in the spinal cord. For genetic research on PE, it is important to take into account that the (serotonergic) modulation of the IELT is variable among men and may even be absent. This means that serotonergic genetic polymorphisms may only be found in men with PE who respond with an ejaculation delay treatment with a selective serotonin reuptake inhibitor. PMID:21344023

  9. Legal limitations on genetic research and the commercialisation of its results

    NARCIS (Netherlands)

    Schellekens, M.H.M.; van van Erp, J.H.M.; van van Vliet, L.P.W.

    2006-01-01

    Developments in genetics hold a strong promise for future possibilities in the cure of diseases and the prevention of health hazards. Research by Groningen University has e.g. brought to light that presently unknown mutations of alleles on the fifth chromosome make children susceptible to the advers

  10. Research on Quantum Genetic Algorithm%量子遗传算法研究

    Institute of Scientific and Technical Information of China (English)

    白小宝

    2013-01-01

      量子遗传算法是在遗传算法中引入量子计算的概念,是20世纪90年代新兴的研究领域。介绍了遗传算法(GA)和量子算法(QC)的特点,以及量子遗传算法(QGA)的基本理论与方法。并在Matlab下编程对量子遗传算法与传统遗传算法的效率进行比较。%Quantum genetic algorithm is a genetic algorithm introduced the concept of quantum computing,it is the emerging field of research in the 90s of the last century. This article describes the characteristics of the genetic algorithm (GA)and quantum algorithm (QC),and the basic theory and method of the quantum genetic algorithm (QGA). To compare the efficiency of quantum genetic algorithm and the traditional genetic algorithm we program in matlab.

  11. A targeted review of the neurobiology and genetics of behavioural addictions: an emerging area of research.

    Science.gov (United States)

    Leeman, Robert F; Potenza, Marc N

    2013-05-01

    This review summarizes neurobiological and genetic findings in behavioural addictions, draws parallels with findings pertaining to substance use disorders, and offers suggestions for future research. Articles concerning brain function, neurotransmitter activity, and family history and (or) genetic findings for behavioural addictions involving gambling, Internet use, video game playing, shopping, kleptomania, and sexual activity were reviewed. Behavioural addictions involve dysfunction in several brain regions, particularly the frontal cortex and striatum. Findings from imaging studies incorporating cognitive tasks have arguably been more consistent than cue-induction studies. Early results suggest white and grey matter differences. Neurochemical findings suggest roles for dopaminergic and serotonergic systems, but results from clinical trials seem more equivocal. While limited, family history and genetic data support heritability for pathological gambling and that people with behavioural addictions are more likely to have a close family member with some form of psychopathology. Parallels exist between neurobiological and genetic and family history findings in substance and nonsubstance addictions, suggesting that compulsive engagement in these behaviours may constitute addictions. To date, findings are limited, particularly for shopping, kleptomania, and sexual behaviour. Genetic understandings are at an early stage. Future research directions are offered.

  12. A Targeted Review of the Neurobiology and Genetics of Behavioral Addictions: An Emerging Area of Research

    Science.gov (United States)

    Leeman, Robert F.; Potenza, Marc N.

    2013-01-01

    This review summarizes neurobiological and genetic findings in behavioral addictions, draws parallels with findings pertaining to substance use disorders and offers suggestions for future research. Articles concerning brain function, neurotransmitter activity and family history/genetics findings for behavioral addictions involving gambling, internet use, video game playing, shopping, kleptomania and sexual activity were reviewed. Behavioral addictions involve dysfunction in several brain regions, particularly the frontal cortex and striatum. Findings from imaging studies incorporating cognitive tasks have arguably been more consistent than cue-induction studies. Early results suggest white and gray matter differences. Neurochemical findings suggest roles for dopaminergic and serotonergic systems, but results from clinical trials seem more equivocal. While limited, family history/genetic data support heritability for pathological gambling and that those with behavioral addictions are more likely to have a close family member with some form of psychopathology. Parallels exist between neurobiological and genetic/family history findings in substance and non-substance addictions, suggesting that compulsive engagement in these behaviors may constitute addictions. Findings to date are limited, particularly for shopping, kleptomania and sexual behavior. Genetic understandings are at an early stage. Future research directions are offered. PMID:23756286

  13. An Introduction to Thinking about Trustworthy Research into the Genetics of Intelligence.

    Science.gov (United States)

    Parens, Erik; Appelbaum, Paul S

    2015-01-01

    The advent of new technologies has rekindled some hopes that it will be possible to identify genetic variants that will help to explain why individuals are different with respect to complex traits. At least one leader in the development of "whole genome sequencing"-the Chinese company BGI-has been quite public about its commitment to using the technique to investigate the genetics of intelligence in general and high intelligence in particular. Because one needs large samples to detect the small effects associated with small genetic differences in the sequence of those base pairs, to make headway with the new sequencing technologies, one also needs to enlist much larger numbers of study participants than geneticists have enrolled before. In an effort to increase the size of a sample, one team of researchers approached the Center for Talented Youth at Johns Hopkins University. They wanted to gain access to records concerning participants in CTY's ongoing Study of Exceptional Talent, and they wanted to approach those individuals to see if they would be willing to share samples of their DNA. We agreed that CTY's dilemma about whether to give the researchers access to those records raised larger questions about the ethics of research into the genetics of intelligence, and we decided to hold a workshop at The Hastings Center that could examine those questions. Our purpose was to create what, borrowing from Sarah Richardson, we came to call a "transformative conversation" about research into the genetics of general cognitive ability-a conversation that would take a wide and long view and would involve a diverse group of stakeholders, including both people who have been highly critical of the research and people who engage in it. This collection of essays, which grew out of that workshop, is intended to provide an introduction to and exploration of this complex and important area.

  14. Building capacity for human genetics and genomics research in Trinidad and Tobago

    Science.gov (United States)

    Roach, Allana; Warner, Wayne A.; Llanos, Adana A. M.

    2016-01-01

    Advances in human genetics and genomic sciences and the corresponding explosion of biomedical technologies have deepened current understanding of human health and revolutionized medicine. In developed nations, this has led to marked improvements in disease risk stratification and diagnosis. These advances have also led to targeted intervention strategies aimed at promoting disease prevention, prolonging disease onset, and mitigating symptoms, as in the well-known case of breast cancer and the BRCA1 gene. In contrast, in the developing nation of Trinidad and Tobago, this scientific revolution has not translated into the development and application of effective genomics-based interventions for improving public health. While the reasons for this are multifactorial, the underlying basis may be rooted in the lack of pertinence of internationally driven genomics research to the local public health needs in the country, as well as a lack of relevance of internationally conducted genetics research to the genetic and environmental contexts of the population. Indeed, if Trinidad and Tobago is able to harness substantial public health benefit from genetics/genomics research, then there is a dire need, in the near future, to build local capacity for the conduct and translation of such research. Specifically, it is essential to establish a national human genetics/genomics research agenda in order to build sustainable human capacity through education and knowledge transfer and to generate public policies that will provide the basis for the creation of a mutually beneficial framework (including partnerships with more developed nations) that is informed by public health needs and contextual realities of the nation. PMID:26837529

  15. Genetics

    DEFF Research Database (Denmark)

    Christensen, Kaare; McGue, Matt

    2016-01-01

    The sequenced genomes of individuals aged ≥80 years, who were highly educated, self-referred volunteers and with no self-reported chronic diseases were compared to young controls. In these data, healthy ageing is a distinct phenotype from exceptional longevity and genetic factors that protect...

  16. Dichoptic viewing methods for binocular rivalry research: prospects for large-scale clinical and genetic studies.

    Science.gov (United States)

    Law, Phillip C F; Paton, Bryan K; Thomson, Richard H; Liu, Guang B; Miller, Steven M; Ngo, Trung T

    2013-12-01

    Binocular rivalry (BR) is an intriguing phenomenon that occurs when two different images are presented, one to each eye, resulting in alternation or rivalry between the percepts. The phenomenon has been studied for nearly 200 years, with renewed and intensive investigation over recent decades. The rate of perceptual switching has long been known to vary widely between individuals but to be relatively stable within individuals. A recent twin study demonstrated that individual variation in BR rate is under substantial genetic control, a finding that also represented the first report, using a large study, of genetic contribution for any post-retinal visual processing phenomenon. The twin study had been prompted by earlier work showing BR rate was slow in the heritable psychiatric condition, bipolar disorder (BD). Together, these studies suggested that slow BR may represent an endophenotype for BD, and heralded the advent of modern clinical and genetic studies of rivalry. This new focus has coincided with rapid advances in 3D display technology, but despite such progress, specific development of technology for rivalry research has been lacking. This review therefore compares different display methods for BR research across several factors, including viewing parameters, image quality, equipment cost, compatibility with other investigative methods, subject group, and sample size, with a focus on requirements specific to large-scale clinical and genetic studies. It is intended to be a resource for investigators new to BR research, such as clinicians and geneticists, and to stimulate the development of 3D display technology for advancing interdisciplinary studies of rivalry.

  17. [Research on nature of Chinese materia medica in view of genetic relationship].

    Science.gov (United States)

    Yang, Hong-Jun; Tang, Shi-Huan; Huang, Lu-Qi; Xiao, Pei-Gen

    2008-12-01

    In this paper, based on analyzing the status quo and key problem of research on nature of Chinese materia medica, we propose the thinking of research on nature of Chinese materia medica in view of genetic relationship. Namely, according to the cue of documents arrangement and data excavation, in certern scope of genetic relationship, difinite the common pharmaco-effect of the same nature of drug, and analyze the chemical composition correlated the nature of drug, further more, reveal the related regularity of nature of Chinese materia medica-pharmaco-effect- chemical composition. Linking the nature of Chinese materia medica, pharmaco-effect and chemical composition will provide original thinking and view angle to break through the key problem of research on nature of Chinese materia medica.

  18. Distorting Genetic Research about Cancer: From Bench Science to Press Release to Published News.

    Science.gov (United States)

    Brechman, Jean M; Lee, Chul-Joo; Cappella, Joseph

    2011-06-01

    This study considered genetic research relating to cancer outcomes and behaviors, specifically investigating the extent to which claims made in press releases (N=23) and mainstream print media (N=71) were fairly derived from their original presentation in scholarly journals (N=20). Central claims expressing gene-outcome relationships were evaluated by a large pool (N=40) of genetics graduate students. Raters judged press release claims as significantly more representative of material within the original science journal article compared with news article claims. Claims originating in news articles which demonstrated contact with individuals not directly involved in the research were judged by experts to be more representative of the original science as compared with those that demonstrated contact with individuals directly involved in the research.

  19. Pediatric Cancer Genetics Research and an Evolving Preventive Ethics Approach for Return of Results after Death of the Subject.

    Science.gov (United States)

    Scollon, Sarah; Bergstrom, Katie; McCullough, Laurence B; McGuire, Amy L; Gutierrez, Stephanie; Kerstein, Robin; Parsons, D Williams; Plon, Sharon E

    2015-01-01

    The return of genetic research results after death in the pediatric setting comes with unique complexities. Researchers must determine which results and through which processes results are returned. This paper discusses the experience over 15 years in pediatric cancer genetics research of returning research results after the death of a child and proposes a preventive ethics approach to protocol development in order to improve the quality of return of results in pediatric genomic settings.

  20. Barriers to translating emerging genetic research on smoking into clinical practice. Perspectives of primary care physicians.

    Science.gov (United States)

    Shields, Alexandra E; Blumenthal, David; Weiss, Kevin B; Comstock, Catherine B; Currivan, Douglas; Lerman, Caryn

    2005-02-01

    Smoking remains the leading cause of preventable death nationally. Emerging research may lead to improved smoking cessation treatment options, including tailoring treatment by genotype. Our objective was to assess primary care physicians' attitudes toward new genetic-based approaches to smoking treatment. A 2002 national survey of primary care physicians. Respondents were randomly assigned a survey including 1 of 2 scenarios: a scenario in which a new test to tailor smoking treatment was described as a "genetic" test or one in which the new test was described as a "serum protein" test. The study sample was randomly drawn from all U.S. primary care physicians in the American Medical Association Masterfile (e.g., those with a primary specialty of internal medicine, family practice, or general practice). Of 2,000 sampled physicians, 1,120 responded, yielding a response rate of 62.3%. Controlling for physician and practice characteristics, describing a new test as "genetic" resulted in a regression-adjusted mean adoption score of 73.5, compared to a score of 82.5 for a nongenetic test, reflecting an 11% reduction in physicians' likelihood of offering such a test to their patients. Merely describing a new test to tailor smoking treatment as "genetic" poses a significant barrier to physician adoption. Considering national estimates of those who smoke on a daily basis, this 11% reduction in adoption scores would translate into 3.9 million smokers who would not be offered a new genetic-based treatment for smoking. While emerging genetic research may lead to improved smoking treatment, the potential of novel interventions will likely go unrealized unless barriers to clinical integration are addressed.

  1. Current knowledge on the genetics of autism and propositions for future research.

    Science.gov (United States)

    Bourgeron, Thomas

    2016-01-01

    Autism spectrum disorders (ASD) are a heterogeneous group of neuropsychiatric disorders characterized by problems in social communication, as well as by the presence of restricted interests, stereotyped and repetitive behaviours. In the last 40years, genetic studies have provided crucial information on the causes of ASD and its diversity. In this article, I will first review the current knowledge on the genetics of ASD and then suggest three propositions to foster research in this field. Twin and familial studies estimated the heritability of ASD to be 50%. While most of the inherited part of ASD is captured by common variants, our current knowledge on the genetics of ASD comes almost exclusively from the identification of highly penetrant de novo mutations through candidate gene or whole exome/genome sequencing studies. Approximately 10% of patients with ASD, especially those with intellectual disability, are carriers of de novo copy-number (CNV) or single nucleotide variants (SNV) affecting clinically relevant genes for ASD. Given the function of these genes, it was hypothesized that abnormal synaptic plasticity and failure of neuronal/synaptic homeostasis could increase the risk of ASD. In addition to these discoveries, three propositions coming from institutions, researchers and/or communities of patients and families can be made to foster research on ASD: (i) to use more dimensional and quantitative data than diagnostic categories; (ii) to increase data sharing and research on genetic and brain diversity in human populations; (iii) to involve patients and relatives as participants for research. Hopefully, this knowledge will lead to a better diagnosis, care and integration of individuals with ASD.

  2. Progress and prospects for genetic modification of nonhuman primate models in biomedical research.

    Science.gov (United States)

    Chan, Anthony W S

    2013-01-01

    The growing interest of modeling human diseases using genetically modified (transgenic) nonhuman primates (NHPs) is a direct result of NHPs (rhesus macaque, etc.) close relation to humans. NHPs share similar developmental paths with humans in their anatomy, physiology, genetics, and neural functions; and in their cognition, emotion, and social behavior. The NHP model within biomedical research has played an important role in the development of vaccines, assisted reproductive technologies, and new therapies for many diseases. Biomedical research has not been the primary role of NHPs. They have mainly been used for safety evaluation and pharmacokinetics studies, rather than determining therapeutic efficacy. The development of the first transgenic rhesus macaque (2001) revolutionized the role of NHP models in biomedicine. Development of the transgenic NHP model of Huntington's disease (2008), with distinctive clinical features, further suggested the uniqueness of the model system; and the potential role of the NHP model for human genetic disorders. Modeling human genetic diseases using NHPs will continue to thrive because of the latest advances in molecular, genetic, and embryo technologies. NHPs rising role in biomedical research, specifically pre-clinical studies, is foreseeable. The path toward the development of transgenic NHPs and the prospect of transgenic NHPs in their new role in future biomedicine needs to be reviewed. This article will focus on the advancement of transgenic NHPs in the past decade, including transgenic technologies and disease modeling. It will outline new technologies that may have significant impact in future NHP modeling and will conclude with a discussion of the future prospects of the transgenic NHP model.

  3. Progress and Prospects in Human Genetic Research into Age-Related Hearing Impairment

    Directory of Open Access Journals (Sweden)

    Yasue Uchida

    2014-01-01

    Full Text Available Age-related hearing impairment (ARHI is a complex, multifactorial disorder that is attributable to confounding intrinsic and extrinsic factors. The degree of impairment shows substantial variation between individuals, as is also observed in the senescence of other functions. This individual variation would seem to refute the stereotypical view that hearing deterioration with age is inevitable and may indicate that there is ample scope for preventive intervention. Genetic predisposition could account for a sizable proportion of interindividual variation. Over the past decade or so, tremendous progress has been made through research into the genetics of various forms of hearing impairment, including ARHI and our knowledge of the complex mechanisms of auditory function has increased substantially. Here, we give an overview of recent investigations aimed at identifying the genetic risk factors involved in ARHI and of what we currently know about its pathophysiology. This review is divided into the following sections: (i genes causing monogenic hearing impairment with phenotypic similarities to ARHI; (ii genes involved in oxidative stress, biologic stress responses, and mitochondrial dysfunction; and (iii candidate genes for senescence, other geriatric diseases, and neurodegeneration. Progress and prospects in genetic research are discussed.

  4. Characterizing Race/Ethnicity and Genetic Ancestry for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort

    Science.gov (United States)

    Banda, Yambazi; Kvale, Mark N.; Hoffmann, Thomas J.; Hesselson, Stephanie E.; Ranatunga, Dilrini; Tang, Hua; Sabatti, Chiara; Croen, Lisa A.; Dispensa, Brad P.; Henderson, Mary; Iribarren, Carlos; Jorgenson, Eric; Kushi, Lawrence H.; Ludwig, Dana; Olberg, Diane; Quesenberry, Charles P.; Rowell, Sarah; Sadler, Marianne; Sakoda, Lori C.; Sciortino, Stanley; Shen, Ling; Smethurst, David; Somkin, Carol P.; Van Den Eeden, Stephen K.; Walter, Lawrence; Whitmer, Rachel A.; Kwok, Pui-Yan; Schaefer, Catherine; Risch, Neil

    2015-01-01

    Using genome-wide genotypes, we characterized the genetic structure of 103,006 participants in the Kaiser Permanente Northern California multi-ethnic Genetic Epidemiology Research on Adult Health and Aging Cohort and analyzed the relationship to self-reported race/ethnicity. Participants endorsed any of 23 race/ethnicity/nationality categories, which were collapsed into seven major race/ethnicity groups. By self-report the cohort is 80.8% white and 19.2% minority; 93.8% endorsed a single race/ethnicity group, while 6.2% endorsed two or more. Principal component (PC) and admixture analyses were generally consistent with prior studies. Approximately 17% of subjects had genetic ancestry from more than one continent, and 12% were genetically admixed, considering only nonadjacent geographical origins. Self-reported whites were spread on a continuum along the first two PCs, indicating extensive mixing among European nationalities. Self-identified East Asian nationalities correlated with genetic clustering, consistent with extensive endogamy. Individuals of mixed East Asian–European genetic ancestry were easily identified; we also observed a modest amount of European genetic ancestry in individuals self-identified as Filipinos. Self-reported African Americans and Latinos showed extensive European and African genetic ancestry, and Native American genetic ancestry for the latter. Among 3741 genetically identified parent–child pairs, 93% were concordant for self-reported race/ethnicity; among 2018 genetically identified full-sib pairs, 96% were concordant; the lower rate for parent–child pairs was largely due to intermarriage. The parent–child pairs revealed a trend toward increasing exogamy over time; the presence in the cohort of individuals endorsing multiple race/ethnicity categories creates interesting challenges and future opportunities for genetic epidemiologic studies. PMID:26092716

  5. Research to support sterile-male-release and genetic alteration techniques for sea lamprey control

    Science.gov (United States)

    Bergstedt, Roger A.; Twohey, Michael B.

    2007-01-01

    Integrated pest management of sea lampreys in the Laurentian Great Lakes has recently been enhanced by addition of a sterile-male-release program, and future developments in genetic approaches may lead to additional methods for reducing sea lamprey reproduction. We review the development, implementation, and evaluation of the sterile-male-release technique (SMRT) as it is being applied against sea lampreys in the Great Lakes, review the current understanding of SMRT efficacy, and identify additional research areas and topics that would increase either the efficacy of the SMRT or expand its geographic potential for application. Key areas for additional research are in the sterilization process, effects of skewed sex ratios on mating behavior, enhancing attractiveness of sterilized males, techniques for genetic alteration of sea lampreys, and sources of animals to enhance or expand the use of sterile lampreys.

  6. Cultivating the scientific research ability of undergraduate students in teaching of genetics.

    Science.gov (United States)

    Wanjin, Xing; Morigen, Morigen

    2016-11-20

    The classroom is the main venue for undergraduate teaching. It is worth pondering how to cultivate undergraduate's research ability in classroom teaching. Here we introduce the practices and experiences in teaching reform in genetics for training the research quality of undergraduate students from six aspects: (1) constructing the framework for curriculum framework systematicaly, (2) using the teaching content to reflect research progress, (3) explaining knowledge points with research activities, (4) explaining the scientific principles and experiments with PPT animation, (5) improving English reading ability through bilingual teaching, and (6) testing students' analysing ability through examination. These reforms stimulate undergraduate students' enthusiasm for learning, cultivate their ability to find, analyze and solve scientific problems, and improve their English reading and literature reviewing capacity, which lay a foundation for them to enter the field of scientific research.

  7. Stakeholder views on the creation and use of genetically-engineered animals in research.

    Science.gov (United States)

    Ormandy, Elisabeth H

    2016-05-01

    This interview-based study examined the diversity of views relating to the creation and use of genetically-engineered (GE) animals in biomedical science. Twenty Canadian participants (eight researchers, five research technicians and seven members of the public) took part in the interviews, in which four main themes were discussed: a) how participants felt about the genetic engineering of animals as a practice; b) governance of the creation and use of GE animals in research, and whether current guidelines are sufficient; c) the Three Rs (Replacement, Reduction, Refinement) and how they are applied during the creation and use of GE animals in research; and d) whether public opinion should play a greater role in the creation and use of GE animals. Most of the participants felt that the creation and use of GE animals for biomedical research purposes (as opposed to food purposes) is acceptable, provided that tangible human health benefits are gained. However, obstacles to Three Rs implementation were identified, and the participants agreed that more effort should be placed on engaging the public on the use of GE animals in research.

  8. Research and application of genetic algorithm in path planning of logistics distribution vehicle

    Science.gov (United States)

    Wang, Yong; Zhou, Heng; Wang, Ying

    2017-08-01

    The core of the logistics distribution system is the vehicle routing planning, research path planning problem, provide a better solution has become an important issue. In order to provide the decision support for logistics and distribution operations, this paper studies the problem of vehicle routing with capacity constraints (CVRP). By establishing a mathematical model, the genetic algorithm is used to plan the path of the logistics vehicle to meet the minimum logistics and transportation costs.

  9. Your Genes, Your Choices: Exploring the Issues Raised by Genetic Research

    Energy Technology Data Exchange (ETDEWEB)

    Baker, C.

    1999-05-31

    Your Genes, Your Choices provides accurate information about the ethical, legal, and social implications of the Human Genome Project and genetic research in an easy-to-read style and format. Each chapter in the book begins with a brief vignette, which introduces an issue within a human story, and raises a question for the reader to think about as the basic science and information are presented in the rest of the chapter.

  10. Research on Community Competition and Adaptive Genetic Algorithm for Automatic Generation of Tang Poetry

    OpenAIRE

    Wujian Yang; Yining Cheng; Jie He; Wenqiong Hu; Xiaojia Lin

    2016-01-01

    As there are many researches about traditional Tang poetry, among which automatically generated Tang poetry has arouse great concern in recent years. This study presents a community-based competition and adaptive genetic algorithm for automatically generating Tang poetry. The improved algorithm with community-based competition that has been added aims to maintain the diversity of genes during evolution; meanwhile, the adaptation means that the probabilities of crossover and mutation are varie...

  11. Enhancing recruitment of African-American families into genetic research: lessons learned from Project SuGar.

    Science.gov (United States)

    Spruill, Ida J

    2010-09-01

    Despite some recruitment success in biomedical research among minorities, participation by African-American families into research, specifically genetic research, is lower than Caucasian families (Bowen and Penchaszadeh Community Genet 11:189-190, 2008). Such low participation rates by African-Americans prevent the exploration of specific ethnic differences in patterns of diseases and diminish the identification of specific disease risks among ethnic groups (Bowen and Penchaszadeh Community Genet 11:189-190, 2008). Although African-Americans are heterogeneous, few studies exist to describe effective recruitment strategies across diverse African-American populations, and even fewer studies share effective strategies for the enrollment of African-American families into genetic research. A process evaluation of recruitment strategies used by Project SuGar (a community-based genetic research study focusing on families affected by type 2 diabetes) to enroll African-American families into genetic research was conducted. Our goal was to enroll 400 affected African-American families, and our results yielded 672 families, (n=672). Our success can be attributed to the formation of a Citizen Advisory Committee, recruitment style, flexible protocol, and formal agreement with community health centers. We found that African-American families will participate in research and that providing tangible benefits to the community and utilizing a sense of patience can enhance positive recruitment results. Data from this study may be used to recruit geographically isolated families into genetic research.

  12. Monkey-based research on human disease: the implications of genetic differences.

    Science.gov (United States)

    Bailey, Jarrod

    2014-11-01

    Assertions that the use of monkeys to investigate human diseases is valid scientifically are frequently based on a reported 90-93% genetic similarity between the species. Critical analyses of the relevance of monkey studies to human biology, however, indicate that this genetic similarity does not result in sufficient physiological similarity for monkeys to constitute good models for research, and that monkey data do not translate well to progress in clinical practice for humans. Salient examples include the failure of new drugs in clinical trials, the highly different infectivity and pathology of SIV/HIV, and poor extrapolation of research on Alzheimer's disease, Parkinson's disease and stroke. The major molecular differences underlying these inter-species phenotypic disparities have been revealed by comparative genomics and molecular biology - there are key differences in all aspects of gene expression and protein function, from chromosome and chromatin structure to post-translational modification. The collective effects of these differences are striking, extensive and widespread, and they show that the superficial similarity between human and monkey genetic sequences is of little benefit for biomedical research. The extrapolation of biomedical data from monkeys to humans is therefore highly unreliable, and the use of monkeys must be considered of questionable value, particularly given the breadth and potential of alternative methods of enquiry that are currently available to scientists.

  13. GDR (Genome Database for Rosaceae: integrated web resources for Rosaceae genomics and genetics research

    Directory of Open Access Journals (Sweden)

    Ficklin Stephen

    2004-09-01

    Full Text Available Abstract Background Peach is being developed as a model organism for Rosaceae, an economically important family that includes fruits and ornamental plants such as apple, pear, strawberry, cherry, almond and rose. The genomics and genetics data of peach can play a significant role in the gene discovery and the genetic understanding of related species. The effective utilization of these peach resources, however, requires the development of an integrated and centralized database with associated analysis tools. Description The Genome Database for Rosaceae (GDR is a curated and integrated web-based relational database. GDR contains comprehensive data of the genetically anchored peach physical map, an annotated peach EST database, Rosaceae maps and markers and all publicly available Rosaceae sequences. Annotations of ESTs include contig assembly, putative function, simple sequence repeats, and anchored position to the peach physical map where applicable. Our integrated map viewer provides graphical interface to the genetic, transcriptome and physical mapping information. ESTs, BACs and markers can be queried by various categories and the search result sites are linked to the integrated map viewer or to the WebFPC physical map sites. In addition to browsing and querying the database, users can compare their sequences with the annotated GDR sequences via a dedicated sequence similarity server running either the BLAST or FASTA algorithm. To demonstrate the utility of the integrated and fully annotated database and analysis tools, we describe a case study where we anchored Rosaceae sequences to the peach physical and genetic map by sequence similarity. Conclusions The GDR has been initiated to meet the major deficiency in Rosaceae genomics and genetics research, namely a centralized web database and bioinformatics tools for data storage, analysis and exchange. GDR can be accessed at http://www.genome.clemson.edu/gdr/.

  14. Enhancing recruitment of African-American families into genetic research: lessons learned from Project SuGar

    OpenAIRE

    2010-01-01

    Despite some recruitment success in biomedical research among minorities, participation by African-American families into research, specifically genetic research, is lower than Caucasian families (Bowen and Penchaszadeh Community Genet 11:189–190, 2008). Such low participation rates by African-Americans prevent the exploration of specific ethnic differences in patterns of diseases and diminish the identification of specific disease risks among ethnic groups (Bowen and Penchaszadeh Community G...

  15. PRELIMINARY RESEARCHES REGARDING THE GENETIC AND MORPHOMETRIC CHARACTERIZATION OF HONEYBEES (A. MELLIFERA L. FROM ROMANIA

    Directory of Open Access Journals (Sweden)

    ELIZA CAUIA

    2013-12-01

    Full Text Available The international investigations regarding the honeybees’ diversity carried out until now have revealed a certain degree of genetic pollution in different countries from Europe, because of the import of more productive honeybees’ races or of some interracial honeybees’ hybrids. This fact might have a negative impact on the success adaptability of honeybees at the ecosystem. Although, the Romanian honeybees (Apis mellifera carpathica are well adapted to the local conditions and express a good resistance to diseases, the introgression (genetic pollution of different honeybees’ races could be an imminent event. So that, starting from 2007, by a cooperation between the Institute for Beekeeping Research and Development from Bucharest and the Institute of Genetics of the University of Bucharest, we have initiated different investigations in order to obtain a more accurate state of the Romanian honeybees’ diversity. We have performed specific molecular analyses, using mtDNA (the COI-COII test extracted from 32 different honeybees samples collected from several regions from Romania. For a better and detailed characterization of the collected honeybee’s samples we have also carried out some morphometric measurements of their wings. Our data have shown that the Romanian population of honeybees is almost homogenous from the genetic and the morphometric points of views. These types of investigations represent a premiere for Romania.

  16. CACAO (THEOBROMA CACAO L.) GENETIC RESOURCES RESEARCH AT THE USDA-ARS TROPICAL AGRICULTURE RESEARCH STATION

    Science.gov (United States)

    The current USDA ARS Tropical Agriculture Research Station’s cacao (Theobroma cacao) collection consists of 154 clonally propagated accessions. Each accession is represented by six individual trees grafted on Amelonado rootstocks and planted in a completely randomized block design with three blocks...

  17. Reflections and perspectives of African-American community leaders regarding genetics and genomics research: sentiment and wisdom of Sankofa.

    Science.gov (United States)

    Underwood, Sandra Millon; Buseh, Aaron G; Stevens, Patricia E; Townsend, Leolia; Kelber, Sheryl T

    2013-07-01

    Advances in genetic and genomic research are shifting the typical disease timeline. For those afflicted by disease and for population groups known to experience excess disease-related morbidity and mortality, the ability to use genetics and genomics to predict an individuals' predisposition for developing a disease and/or to anticipate an individual's response to treatments holds tremendous promise. Over the past two decades several public and private institutions within the United States have been established for the purpose of collecting and storing biological specimens for the purpose of conducting genetic/genomic research. Multiple reports indicate that the involvement of racial/ethnic minority participants in these bio-repositories is limited. Little is known about the willingness of African-Americans, one of the largest and most vulnerable racial/ethnic population groups, to participate in genetic research, genomic research, and to contribute biological specimens to bio-repositories. An exploratory study was undertaken using principles of community engagement and community-based participatory research to examine the perspectives of leaders within the African-American community about participation in genetics research, genomics research, and bio-banking. Semi-structured focus groups with twenty-one African-American community leaders were the primary means of gathering the study data. Reflections and commentary of the community leaders were interspersed with sentiments of "Sankofa." The emergent themes, health-related disparities, historical injustices in medical research, the promise of genetic and genomic research, and genetics/genomic research engagement, implicated the importance of conducting genetics/genomics research in the context of the community interdependent with efforts to address determinants of health and health disparities.

  18. [Monogenic obesity - current status of molecular genetic research and clinical importance].

    Science.gov (United States)

    Aldhoon-Hainerová, Irena; Včelák, Josef; Zamrazilová, Hana

    2014-01-01

    Obesity and its comorbidities represent one of the major health problems worldwide. A positive energy balance due to inappropriate life-style changes plays a key role in the current obesity epidemic. The influence of genetic factors is also significant - several studies concluded that genes contribute to the development of obesity by 40-70%. Genetic variability predisposes an individual to tendency or resistance to increase body weight in obesogenic environment. Polygenic type of inheritance is responsible in most of obese individuals. However, an intensive research of the past 20 years has led to an identification of several genes causing monogenic forms of obesity. To date, several monogenic genes (leptin, leptin receptor, prohormon convertase 1, proopiomelanocortin, melanocortin 4 receptor, single-minded homolog 1, brain-derived neurotrophic factor, neurotrophic tyrosine kinase receptor type 2) that are either involved in the neuronal differentiation of the paraventricular nucleus or in the leptin-melanocortin pathway are known to cause obesity. Mutation carriers apart from severe early onset obesity manifest with additional phenotypic characteristics as adrenal insufficiency, impaired immunity and impaired fertility. This review provides an overview of molecular-genetic and clinical research in the field of monogenic obesities including therapeutical approaches.

  19. Ethics of genetic testing and research in sport: a position statement from the Australian Institute of Sport

    Science.gov (United States)

    Vlahovich, Nicole; Fricker, Peter A; Brown, Matthew A; Hughes, David

    2017-01-01

    As Australia's peak high-performance sport agency, the Australian Institute of Sport (AIS) has developed this position statement to address the implications of recent advances in the field of genetics and the ramifications for the health and well-being of athletes. Genetic testing has proven of value in the practice of clinical medicine. There are, however, currently no scientific grounds for the use of genetic testing for athletic performance improvement, sport selection or talent identification. Athletes and coaches should be discouraged from using direct-to-consumer genetic testing because of its lack of validation and replicability and the lack of involvement of a medical practitioner in the process. The transfer of genetic material or genetic modification of cells for performance enhancement is gene doping and should not be used on athletes. There are, however, valid roles for genetic research and the AIS supports genetic research which aims to enhance understanding of athlete susceptibility to injury or illness. Genetic research is only to be conducted after careful consideration of a range of ethical concerns which include the provision of adequate informed consent. The AIS is committed to providing leadership in delivering an ethical framework that protects the well-being of athletes and the integrity of sport, in the rapidly changing world of genomic science. PMID:27899345

  20. Scientific rationality, uncertainty and the governance of human genetics: an interview study with researchers at deCODE genetics.

    Science.gov (United States)

    Hjörleifsson, Stefán; Schei, Edvin

    2006-07-01

    Technology development in human genetics is fraught with uncertainty, controversy and unresolved moral issues, and industry scientists are sometimes accused of neglecting the implications of their work. The present study was carried out to elicit industry scientists' reflections on the relationship between commercial, scientific and ethical dimensions of present day genetics and the resources needed for robust governance of new technologies. Interviewing scientists of the company deCODE genetics in Iceland, we found that in spite of optimism, the informants revealed ambiguity and uncertainty concerning the use of human genetic technologies for the prevention of common diseases. They concurred that uncritical marketing of scientific success might cause exaggerated public expectations of health benefits from genetics, with the risk of backfiring and causing resistance to genetics in the population. On the other hand, the scientists did not address dilemmas arising from the commercial nature of their own employer. Although the scientists tended to describe public fear as irrational, they identified issues where scepticism might be well founded and explored examples where they, despite expert knowledge, held ambiguous or tentative personal views on the use of predictive genetic technologies. The rationality of science was not seen as sufficient to ensure beneficial governance of new technologies. The reflexivity and suspension of judgement demonstrated in the interviews exemplify productive features of moral deliberation in complex situations. Scientists should take part in dialogues concerning the governance of genetic technologies, acknowledge any vested interests, and use their expertise to highlight, not conceal the technical and moral complexity involved.

  1. Etiology of infantile autism: a review of recent advances in genetic and neurobiological research.

    Science.gov (United States)

    Trottier, G; Srivastava, L; Walker, C D

    1999-01-01

    The etiology of autism is complex, and in most cases the underlying pathologic mechanisms are unknown. Autism is a hetereogeneous disorder, diagnosed subjectively on the basis of a large number of criteria. Recent research has investigated genetics, in utero insults and brain function as well as neurochemical and immunological factors. On the basis of family and twin studies, there appears to be a genetic basis for a wide "autistic syndrome." About a quarter of cases of autism are associated with genetic disorders such as fragile X syndrome or with infectious diseases such as congenital rubella. Genetic studies have shown an association between autism markers of brain development such as 3 markers of the c-Harvey-ros oncogene and the homeobox gene EN2. In some cases, autism is associated with insults early in gestation, including thalidomide embryopathy. Autism may arise from abnormal central nervous system functioning, since most autistic patients have indications of brain dysfunction, and about half of them have abnormal electroencephalograms. Similarly, the pattern of evoked response potentials and conduction time is altered in autistic children. There is substantial evidence from neuroimaging studies that dysfunctions in the cerebellum and possibly the temporal lobe and association cortex occur in autistic symptoms. Neurochemical studies have investigated the role of serotonin, epinephrine and norepinephrine, since levels of these neurotransmitters are altered in autism, although other hypotheses implicate overactive brain opioid systems and changes in oxytocin neurotransmission. Autoimmunity may also play a role; antibodies against myelin basic protein are often found in children with autism, who also have increased eosinophil and basophil response to IgE-mediated reactions. In summary, the prevailing view is that autism is caused by a pathophysiologic process arising from the interaction of an early environmental insult and a genetic predisposition. PMID

  2. [Practice and research into multi-unit teaching of Medical Genetics.].

    Science.gov (United States)

    Du, Shao-Ling; Xu, Si-Bin; Gong, Lei; Zhu, Xiao-Lei; Wang, Ping; Lin, Ai-Qin

    2010-10-01

    In order to fully arise the enthusiasm of students in active learning and promote their development, we attempted such multiple class teaching methods in teaching medical science of genetics as elaboration of the basic theory of genetics, synopsis on the advance of this field, application of multimedia teaching, case-based teaching, role-play change in class teaching, instructions on writing of reviewing articles and academic assessment by diverse examination. The results suggest that multiple teaching methods can greatly enhance the efficiency of class teaching and comprehensively cultivate the academic ability of the students as well as improve the quality of teachers. Compared with the conventional class teaching, students are much interested in giving lessons by case-based study, CAI teaching and role change of teachers and students in class teaching, which resulted in improvement of self-disciplined study of students, problem settlement, class performance, awareness of the importance of scientific research and reinforcement of team work.

  3. Ethics policies and ethics work in cross-national genetic research and data sharing

    DEFF Research Database (Denmark)

    Hoeyer, Klaus; Tupasela, Aaro; Rasmussen, Malene B.

    2016-01-01

    of scientific work. This paper takes its point of departure in the practices of a Danish laboratory with great experience in international collaboration regarding genetic research. We focus on a simple query, what makes genetic material and health data flow, and which hopes and concerns travel along with them...... scientific output. In tandem with this promotion of data sharing, numerous ethics policies are developed to control data flows and protect privacy and confidentiality. Both sets of policy making, however, pay limited attention to the moral decisions and social ties enacted in the everyday routines......? We explore what we call the flows, the nonflows, and the overflows of material and information, and we document the work producing the flows of health data and biomaterial. We call this work “ethics work” and argue that it is crucial for data sharing though it is rarely articulated in ethics policies...

  4. [Research progress in lampbrush chromosomes and some suggestions for their use in genetics teaching].

    Science.gov (United States)

    Fanguo, Chen; Qingqing, Li

    2016-02-01

    Lampbrush chromosomes (LBCs) are transient giant transcripts that exist at the diplotene stage of the first meiotic division in female gametocytes of almost all animals except mammals. LBCs are named for their lampbrush-like structure, however, they received the lowest research attention in studies of three classical cytogenetic chromosomes. They have been excellent models for studying the structure, organization, transcription, and transcriptional processing of chromosomes during meiosis. Here we briefly summarized these studies and LBCs forming mechanism and also discussed their possible functions, such as providing enough transcriptional products for embryonic development by oocytes LBCs or polyploidy demonstrated by previous reports. Finally, we discussed the possibility of introducing this typical case into our genetics teaching to inspire students' interest in genetics.

  5. How does genetics influence valley fever? research underway now to answer this question

    Directory of Open Access Journals (Sweden)

    Galgiani JN

    2014-10-01

    Full Text Available After decades of interest and speculation about what possible genetic influences are involved in determining the severity of Valley Fever infections, there are now two separate studies underway to address this question, each taking a different and complementary approach. At the very least, such information would be valuable for risk stratification, either for persons wanting that information before travelling to the coccidioidal endemic area or early in the course of a new coccidioidal infection. However, depending upon the success of this research, understanding the genetics could possibly suggest new therapeutic options. Most helped by this work will be Arizonans where two-thirds of all Valley Fever infections in the United States occur.

  6. [Progress of research on genetic engineering antibody and its application in prevention and control of parasitic diseases].

    Science.gov (United States)

    Yao, Yuan; Yu, Chuan-xin

    2013-08-01

    Antibody has extensive application prospects in the biomedical field. The inherent disadvantages of traditional polyclonal antibody and monoclonal antibody limit their application values. The humanized and fragmented antibody remodeling has given a rise to a series of genetic engineered antibody variant. This paper reviews the progress of research on genetic engineering antibody and its application in prevention and control of parasitic diseases.

  7. Heterogeneity in genetic variation and energy sink relationships for residual feed intake across research stations and countries

    Science.gov (United States)

    Our long-term objective is to develop genomic prediction strategies for improving feed efficiency in dairy cattle. In this study, phenotypic data were pooled across multiple research stations to facilitate investigation of the genetic and non-genetic components of feed efficiency in Holstein cattle....

  8. Genetic and epigenetic trends in telomere research: a novel way in immunoepigenetics.

    Science.gov (United States)

    Melicher, Dora; Buzas, Edit I; Falus, Andras

    2015-11-01

    Telomeres are protective heterochromatic structures that cap the end of linear chromosomes and play a key role in preserving genomic stability. Telomere length represents a balance between processes that shorten telomeres during cell divisions with incomplete DNA replication and the ones that lengthen telomeres by the action of telomerase, an RNA-protein complex with reverse transcriptase activity which adds telomeric repeats to DNA molecule ends. Telomerase activity and telomere length have a crucial role in cellular ageing and in the pathobiology of several human diseases attracting intense research. The last few decades have witnessed remarkable advances in our understanding about telomeres, telomere-associated proteins, and the biogenesis and regulation of the telomerase holoenzyme complex, as well as about telomerase activation and the telomere-independent functions of telomerase. Emerging data have revealed that telomere length can be modified by genetic and epigenetic factors, sex hormones, reactive oxygen species and inflammatory reactions. It has become clear that, in order to find out more about the factors influencing the rate of telomere attrition in vivo, it is crucial to explore both genetic and epigenetic mechanisms. Since the telomere/telomerase assembly is under the control of multiple epigenetic influences, the unique design of twin studies could help disentangle genetic and environmental factors in the functioning of the telomere/telomerase system. It is surprising that the literature on twin studies investigating this topic is rather scarce. This review aims to provide an overview of some important immune response- and epigenetics-related aspects of the telomere/telomerase system demanding more research, while presenting the available twin data published in connection with telomere research so far. By emphasising what we know and what we still do not know in these areas, another purpose of this review is to urge more twin studies in telomere

  9. Navigating the cultural geography of indigenous peoples’ attitude toward genetic research: the Ohana (family heart project

    Directory of Open Access Journals (Sweden)

    May Vawer

    2013-08-01

    Full Text Available Background . Little is known about the burden of heart failure among indigenous populations, including Native Hawaiians (NH. Recent concerns about genetic research in the NH community resonate with similar concerns raised by American Indian, Alaskan Native and Canadian First Nations communities and have raised questions about the best way to proceed with studies involving biological specimens. Objective . To help us plan a study to investigate disparities in heart failure incidence and outcomes in a NH community, we performed a qualitative study to examine the community's expectations for heart failure research that includes the collection of biological specimens. Methods . Eighty-five NH with a personal or family history of heart failure, who lived in a geographically isolated community in the state of Hawai‘i participated in 1 of 16 semi-structured interviews. Interviews were conducted in a standard manner, with open-ended questions designed to explore their expectations for a heart failure research study that included the collection of biological specimens. Interviews were analyzed thematically through iterative readings and coding. †Deceased. Results . Four key themes regarding heart failure research with the use of biological specimens characterized their expectations: (a Need to foster trust between investigator and community; (b Establish a partnership with the community to identify needs and goals; (c Need for mutual benefit to investigator and community; (d Identification of a key voice to represent the community. Participants expressed strong support for research. However, the strength of that support was directly related to the strength of the relationship between the research team and the community. The collection of biological specimens for genetic analyses was not an explicit concern or barrier per se. Conclusions . It appears feasible to conduct a heart failure research study that includes the collection of biological samples

  10. Navigating the cultural geography of indigenous peoples' attitude toward genetic research: the Ohana (family) heart project.

    Science.gov (United States)

    Vawer, May; Kaina, Patsy; Leonard, Ann; Ogata, Michael; Blackburn, Beth; Young, Malia; Seto, Todd B

    2013-01-01

    Little is known about the burden of heart failure among indigenous populations, including Native Hawaiians (NH). Recent concerns about genetic research in the NH community resonate with similar concerns raised by American Indian, Alaskan Native and Canadian First Nations communities and have raised questions about the best way to proceed with studies involving biological specimens. To help us plan a study to investigate disparities in heart failure incidence and outcomes in a NH community, we performed a qualitative study to examine the community's expectations for heart failure research that includes the collection of biological specimens. Eighty-five NH with a personal or family history of heart failure, who lived in a geographically isolated community in the state of Hawai'i participated in 1 of 16 semi-structured interviews. Interviews were conducted in a standard manner, with open-ended questions designed to explore their expectations for a heart failure research study that included the collection of biological specimens. Interviews were analyzed thematically through iterative readings and coding. four key themes regarding heart failure research with the use of biological specimens characterized their expectations: (a) Need to foster trust between investigator and community; (b) Establish a partnership with the community to identify needs and goals; (c) Need for mutual benefit to investigator and community; (d) Identification of a key voice to represent the community. Participants expressed strong support for research. However, the strength of that support was directly related to the strength of the relationship between the research team and the community. The collection of biological specimens for genetic analyses was not an explicit concern or barrier per se. It appears feasible to conduct a heart failure research study that includes the collection of biological samples. However, success will likely require addressing the community's expectations, including

  11. Advances and perspectives from genetic research: development of biological markers in Alzheimer's disease.

    Science.gov (United States)

    Zetzsche, Thomas; Rujescu, Dan; Hardy, John; Hampel, Harald

    2010-07-01

    Despite important recent advances, a full understanding of the (genetic) etiology of Alzheimer's disease (AD) is still a long way off. Large collaborative efforts are ongoing, as well as the exploration of various sources of genetic variation. Evidence supports the view that Mendelian early-onset familial forms of AD are caused by rare and usually highly penetrant mutations in three genes (APP, PSEN1 and PSEN2). Considering sporadic late-onset AD (LOAD), the APOE epsilon4 allele is by far the best-established risk gene. Recently published large-scale genome-wide analyses point to additionally relevant genetically associated loci, particularly CLU, PICALM and CR1. These susceptibility loci support existing hypotheses about the amyloid, lipid, chaperone and chronic inflammatory mechanisms in AD pathogenesis, and are therefore likely to provide the basis for the development of hypothesis-driven novel biomarker candidates. Additional genes, listed online in AlzGene (e.g., GAB2 or SORL1) have repeatedly shown risk effects in LOAD, and may be true risk genes, but this is much less certain. New epigenetic research provided some evidence that DNA modifications maybe involved in LOAD (e.g., post-mortem studies described both hypo- and hyper-methylation in AD-related susceptibility genes). With respect to biomarkers, elderly nondemented APOE epsilon4 carriers demonstrated distinct cerebrospinal fluid biomarker signatures and alterations of brain glucose metabolism similar to those observed in AD. Future research should evaluate the usefulness of newly detected AD risk genes and epigenetic changes as potential biomarkers towards genetic profiling of AD or for correlation with endophenotypes and therapeutic outcome.

  12. Genetic structure of a unique admixed population: implications for medical research.

    Science.gov (United States)

    Patterson, Nick; Petersen, Desiree C; van der Ross, Richard E; Sudoyo, Herawati; Glashoff, Richard H; Marzuki, Sangkot; Reich, David; Hayes, Vanessa M

    2010-02-01

    Coloured individuals and made comparisons with historically predicted founder populations. We show that there is substantial genetic contribution from at least four distinct population groups: Europeans, South Asians, Indonesians and a population genetically close to the isiXhosa sub-Saharan Bantu. This is in good accord with the historical record. We briefly examine the implications of determining the genetic diversity of this population, not only for furthering understanding of human evolution out of Africa, but also for genome-wide association studies using admixture mapping. In conclusion, we define the genetic structure of a uniquely admixed population that holds great potential to advance genetic-based medical research.

  13. Genetic Mapping

    Science.gov (United States)

    ... Fact Sheets Fact Sheets En Español: Mapeo Genético Genetic Mapping What is genetic mapping? How do researchers create ... genetic map? What are genetic markers? What is genetic mapping? Among the main goals of the Human Genome ...

  14. Building genetic tools in Drosophila research: an interview with Gerald Rubin

    Directory of Open Access Journals (Sweden)

    2016-04-01

    Full Text Available Gerald (Gerry Rubin, pioneer in Drosophila genetics, is Founding Director of the HHMI-funded Janelia Research Campus. In this interview, Gerry recounts key events and collaborations that have shaped his unique approach to scientific exploration, decision-making, management and mentorship – an approach that forms the cornerstone of the model adopted at Janelia to tackle problems in interdisciplinary biomedical research. Gerry describes his remarkable journey from newcomer to internationally renowned leader in the fly field, highlighting his contributions to the tools and resources that have helped establish Drosophila as an important model in translational research. Describing himself as a ‘tool builder’, his current focus is on developing approaches for in-depth study of the fly nervous system, in order to understand key principles in neurobiology. Gerry was interviewed by Ross Cagan, Senior Editor of Disease Models & Mechanisms.

  15. Attitudes toward medical and genetic confidentiality in the Saudi research biobank: An exploratory survey.

    Science.gov (United States)

    Alahmad, Ghiath; Hifnawy, Tamer; Abbasi, Badaruddin; Dierickx, Kris

    2016-03-01

    Achieving a balance between giving access to information and respecting donors' confidentiality is a crucial issue for any biobank, with its large number of samples and associated information. Despite the existence of much empirical literature on confidentiality, there are too few surveys in the Middle East about the topic, particularly in the Saudi context. A survey was conducted of 200 respondents at King Abdulaziz Medical City in Riyadh, Saudi Arabia, among 5 groups of equal size, comprised of researchers, physicians, medical students, donors and laypersons, respectively. The majority of participants agreed that confidentiality is an important issue and that it is well protected in the Saudi biobank. All 5 groups showed different attitudes toward disclosing information to various third parties. They were in favor of allowing treating physicians, and to a certain extent family members, to have access to medical and genetic results from research. No significant differences were found between views on medical and genetic confidentiality. The majority of respondents agreed that confidentiality might be breached in cases with specific justified reasons. Even considering differences in religion, culture and other factors, the results of the study were consistent with those reported in the literature and research conducted in other countries. We therefore place emphasis on the importance of protecting and promoting patient/donor confidentiality and privacy.

  16. Frontiers of torenia research: innovative ornamental traits and study of ecological interaction networks through genetic engineering.

    Science.gov (United States)

    Nishihara, Masahiro; Shimoda, Takeshi; Nakatsuka, Takashi; Arimura, Gen-Ichiro

    2013-06-26

    Advances in research in the past few years on the ornamental plant torenia (Torenia spps.) have made it notable as a model plant on the frontier of genetic engineering aimed at studying ornamental characteristics and pest control in horticultural ecosystems. The remarkable advantage of torenia over other ornamental plant species is the availability of an easy and high-efficiency transformation system for it. Unfortunately, most of the current torenia research is still not very widespread, because this species has not become prominent as an alternative to other successful model plants such as Arabidopsis, snapdragon and petunia. However, nowadays, a more global view using not only a few selected models but also several additional species are required for creating innovative ornamental traits and studying horticultural ecosystems. We therefore introduce and discuss recent research on torenia, the family Scrophulariaceae, for secondary metabolite bioengineering, in which global insights into horticulture, agriculture and ecology have been advanced. Floral traits, in torenia particularly floral color, have been extensively studied by manipulating the flavonoid biosynthetic pathways in flower organs. Plant aroma, including volatile terpenoids, has also been genetically modulated in order to understand the complicated nature of multi-trophic interactions that affect the behavior of predators and pollinators in the ecosystem. Torenia would accordingly be of great use for investigating both the variation in ornamental plants and the infochemical-mediated interactions with arthropods.

  17. Research Survey of Genetic Engineering Drugs%基因工程药物研究概况

    Institute of Scientific and Technical Information of China (English)

    郭俊清; 徐进; 李建正

    2011-01-01

    对新发展起来的产业基因工程药物的研究作了简要的概述,通过对其发展历史及当前的几种药物的叙述,预测其发展前景。%The new genetically engineered drug industry research was summarized briefly. The prospect of genetically engineered drug industry research was predicted by describing its developing history and several current drugs.

  18. Twins' injuries: genetic and environmental risks / twin research reports / human interest stories.

    Science.gov (United States)

    Segal, Nancy L

    2011-04-01

    The relative contributions of genetic and environmental factors to unintentional injuries are of interest to families with young twins. A recent study found that childhood injuries are explained mostly by child-specific environmental factors. Next, twin research reviews of the association between periodontal disease and cancer, secular trends in gestational age and birthweight, and language development in hearing and deaf co-twins are also summarized. Interesting reports of newborn twins, twin-like relationships, twin interactions and missed twin relationships are presented.

  19. Progress in the research of genetics and clinical manifestation of paroxysmal kinesigenic dyskinesia

    Directory of Open Access Journals (Sweden)

    HUANG Xiao-jun

    2013-05-01

    Full Text Available Paroxysmal kinesigenic dyskinesia (PKD is a disorder characterized by recurrent and brief attacks that are induced by sudden voluntary movement with highly clinical and genetic heterogeneity. Familial PKD are mostly autosomal dominant inherited and proline-rich transmembrare protein 2 (PRRT2 gene has been identified as the causative gene for PKD. So far 56 mutations have been documented and most of them are nonsense ones. No obvious genotype-phenotype correlation has been observed and the function of PRRT2 is still unclear, but the interaction between PRRT2 and synaptosomal-associated protein 25 (SNAP25 will shed the light on the research of PKD mechanism.

  20. Music genetics research: Association with musicality of a polymorphism in the AVPR1A gene.

    Science.gov (United States)

    Mariath, Luiza Monteavaro; Silva, Alexandre Mauat da; Kowalski, Thayne Woycinck; Gattino, Gustavo Schulz; Araujo, Gustavo Andrade de; Figueiredo, Felipe Grahl; Tagliani-Ribeiro, Alice; Roman, Tatiana; Vianna, Fernanda Sales Luiz; Schuler-Faccini, Lavínia; Schuch, Jaqueline Bohrer

    2017-01-01

    Musicality is defined as a natural tendency, sensibility, knowledge, or talent to create, perceive, and play music. Musical abilities involve a great range of social and cognitive behaviors, which are influenced by both environmental and genetic factors. Although a number of studies have yielded insights into music genetics research, genes and biological pathways related to these traits are not fully understood. Our hypothesis in the current study is that genes associated with different behaviors could also influence the musical phenotype. Our aim was to investigate whether polymorphisms in six genes (AVPR1A, SLC6A4, ITGB3, COMT, DRD2 and DRD4) related to social and cognitive traits are associated with musicality in a sample of children. Musicality was assessed through an individualized music therapy assessment profile (IMTAP) which has been validated in Brazil to measure musical ability. We show here that the RS1 microsatellite of the AVPR1A gene is nominally associated with musicality, corroborating previous results linking AVPR1A with musical activity. This study is one of the first to investigate musicality in a comprehensive way, and it contributes to better understand the genetic basis underlying musical ability.

  1. Status of market, regulation and research of genetically modified crops in Chile.

    Science.gov (United States)

    Sánchez, Miguel A; León, Gabriel

    2016-12-25

    Agricultural biotechnology and genetically modified (GM) crops are effective tools to substantially increase productivity, quality, and environmental sustainability in agricultural farming. Furthermore, they may contribute to improving the nutritional content of crops, addressing needs related to public health. Chile has become one of the most important global players for GM seed production for counter-season markets and research purposes. It has a comprehensive regulatory framework to carry out this activity, while at the same time there are numerous regulations from different agencies addressing several aspects related to GM crops. Despite imports of GM food/feed or ingredients for the food industry being allowed without restrictions, Chilean farmers are not using GM seeds for farming purposes because of a lack of clear guidelines. Chile is in a rather contradictory situation about GM crops. The country has invested considerable resources to fund research and development on GM crops, but the lack of clarity in the current regulatory situation precludes the use of such research to develop new products for Chilean farmers. Meanwhile, a larger scientific capacity regarding GM crop research continues to build up in the country. The present study maps and analyses the current regulatory environment for research and production of GM crops in Chile, providing an updated overview of the current status of GM seeds production, research and regulatory issues. Copyright © 2016 Elsevier B.V. All rights reserved.

  2. Generating sociability to drive science: patient advocacy organizations and genetics research.

    Science.gov (United States)

    Panofsky, Aaron

    2011-02-01

    This paper examines how patient advocacy organizations (PAOs) representing those with rare genetic disorders drive research to their concerns. The rarity of the diseases produces a basic condition of marginalization: small numbers of widely distributed disease sufferers. The lack of promise of an eventual market makes it difficult to attract the economic and biological resources necessary for sustained research. My analysis relies mainly on 21 interviews with leaders from nine PAOs and scientists involved with them, and seeks to understand how PAOs try to attract and influence scientific research. Using a comparative framework, I find that the five main mechanisms emphasized in the literature--economic resources, social movement-style mobilization, moving early, lay expertise, and organizational controls--cannot fully explain the differences in strategies and relationships among members of my PAO sample. I propose instead to show how 'sociability'--forging close relationships with scientists and orchestrating relationships among them--enables PAOs to drive research to their concerns. I show how the strategic manipulation of sociability can give PAOs substantial influence over the research process. However, the forms of sociability that yield the greatest effects are difficult to achieve, and most forms of relationship-building offer PAOs much less influence on research.

  3. Development and use of genetically uniform strains of common carp in experimental animal research.

    Science.gov (United States)

    Bongers, A B; Sukkel, M; Gort, G; Komen, J; Richter, C J

    1998-10-01

    Fish are widely used in numerous fields of basic and applied research. Currently, they are the third laboratory animal group in numbers, and will become increasingly important. Common carp is a major species in both aquaculture and research. Inbred strains of carp by gynogenetic (only female inheritance) and androgenetic (only male inheritance) reproduction techniques were developed at our university. With these methods, homozygous animals are produced in one generation and we present the production of homozygous inbred and F1 hybrid strains of common carp. As in mammalian research, using genetically well defined fish is a methodological necessity since in outbred stocks: (1) repeatability between experiments is low, (2) high levels of inbreeding may have accumulated and (3) high intrastrain variability might obscure treatment effects. Within inbred strains, the variation is reduced and as a result, less animals (compared to outbreds) are necessary to obtain statistically significant results. We illustrate this with experimental data from an F1 hybrid and partly outbred strain of common carp, both subjected to an antibiotic treatment resulting in reduced gonadal growth. Results obtained from a single inbred strain should be generalized with the use of a panel of inbred strains. We show that optimal allocation of animals between and within inbred strains depends on the ratio (variation between strains): (variation within strains). When selecting a panel of inbred strains, attention has to be paid to genetic relations between strains to avoid testing within a limited genetic range. It should be considered that in inbred strains, (genic) dominance and interaction effects are absent, due to the absence of heterozygous genotypes. In general, variation within inbred strains will be reduced for traits with a high degree of genetic determination. However, in inbred strains of carp produced by gynogenesis or androgenesis, the chromosome manipulation treatment induces

  4. A binary mixed integer coded genetic algorithm for multi-objective optimization of nuclear research reactor fuel reloading

    Energy Technology Data Exchange (ETDEWEB)

    Binh, Do Quang [University of Technical Education Ho Chi Minh City (Viet Nam); Huy, Ngo Quang [University of Industry Ho Chi Minh City (Viet Nam); Hai, Nguyen Hoang [Centre for Research and Development of Radiation Technology, Ho Chi Minh City (Viet Nam)

    2014-12-15

    This paper presents a new approach based on a binary mixed integer coded genetic algorithm in conjunction with the weighted sum method for multi-objective optimization of fuel loading patterns for nuclear research reactors. The proposed genetic algorithm works with two types of chromosomes: binary and integer chromosomes, and consists of two types of genetic operators: one working on binary chromosomes and the other working on integer chromosomes. The algorithm automatically searches for the most suitable weighting factors of the weighting function and the optimal fuel loading patterns in the search process. Illustrative calculations are implemented for a research reactor type TRIGA MARK II loaded with the Russian VVR-M2 fuels. Results show that the proposed genetic algorithm can successfully search for both the best weighting factors and a set of approximate optimal loading patterns that maximize the effective multiplication factor and minimize the power peaking factor while satisfying operational and safety constraints for the research reactor.

  5. Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases.

    Science.gov (United States)

    Filocamo, Mirella; Baldo, Chiara; Goldwurm, Stefano; Renieri, Alessandra; Angelini, Corrado; Moggio, Maurizio; Mora, Marina; Merla, Giuseppe; Politano, Luisa; Garavaglia, Barbara; Casareto, Lorena; Bricarelli, Francesca Dagna

    2013-08-30

    Several examples have always illustrated how access to large numbers of biospecimens and associated data plays a pivotal role in the identification of disease genes and the development of pharmaceuticals. Hence, allowing researchers to access to significant numbers of quality samples and data, genetic biobanks are a powerful tool in basic, translational and clinical research into rare diseases. Recently demand for well-annotated and properly-preserved specimens is growing at a high rate, and is expected to grow for years to come. The best effective solution to this issue is to enhance the potentialities of well-managed biobanks by building a network.Here we report a 5-year experience of the Telethon Network of Genetic Biobanks (TNGB), a non-profit association of Italian repositories created in 2008 to form a virtually unique catalogue of biospecimens and associated data, which presently lists more than 750 rare genetic defects. The process of TNGB harmonisation has been mainly achieved through the adoption of a unique, centrally coordinated, IT infrastructure, which has enabled (i) standardisation of all the TNGB procedures and activities; (ii) creation of an updated TNGB online catalogue, based on minimal data set and controlled terminologies; (iii) sample access policy managed via a shared request control panel at web portal. TNGB has been engaged in disseminating information on its services into both scientific/biomedical - national and international - contexts, as well as associations of patients and families. Indeed, during the last 5-years national and international scientists extensively used the TNGB with different purposes resulting in more than 250 scientific publications. In addition, since its inception the TNGB is an associated member of the Biobanking and Biomolecular Resources Research Infrastructure and recently joined the EuroBioBank network. Moreover, the involvement of patients and families, leading to the formalization of various agreements

  6. The Review of Ecological and Genetic Research of Ponto-Caspian Gobies (Pisces, Gobiidae in Europe

    Directory of Open Access Journals (Sweden)

    Jakšić Goran

    2016-09-01

    Full Text Available Invasive Ponto-Caspian gobies (monkey goby Neogobius fluviatilis, round goby Neogobius melanostomus and bighead goby Ponticola kessleri have recently caused dramatic changes in fish assemblage structure throughout European river systems. This review provides summary of recent research on their dietary habits, age and growth, phylogenetic lineages and gene diversity. The principal food of all three species is invertebrates, and more rarely fish, which depends on the type of habitat, part of the year, as well as the morphological characteristics of species. According to the von Bertalanffy growth model, size at age is specific for the region, but due to its disadvantages it is necessary to test other growth models. Phylogenetic analysis of monkey goby and round goby indicates separation between the Black Sea and the Caspian Sea haplotypes. The greatest genetic diversity is found among populations of the Black Sea, and the lowest among European invaders. The lack of molecular research on bighead goby requires further studies.

  7. How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence.

    Science.gov (United States)

    Mendes, Álvaro; Paneque, Milena; Sousa, Liliana; Clarke, Angus; Sequeiros, Jorge

    2016-03-01

    Supporting consultands to communicate risk information with their relatives is key to obtaining the full benefits of genetic health care. To understand how health-care professionals address this issue in clinical practice and what interventions are used specifically to assist consultands in their communication of genetic information to appropriate relatives, we conducted a systematic review. Four electronic databases and four subject-specific journals were searched for papers published, in English, between January 1997 and May 2014. Of 2926 papers identified initially, 14 papers met the inclusion criteria for the review and were heterogeneous in design, setting and methods. Thematic data analysis has shown that dissemination of information within families is actively encouraged and supported by professionals. Three overarching themes emerged: (1) direct contact from genetic services: sending letters to relatives of mutation carriers; (2) professionals' encouragement of initially reluctant consultands to share relevant information with at-risk relatives and (3) assisting consultands in communicating genetic information to their at-risk relatives, which included as subthemes (i) psychoeducational guidance and (ii) written information aids. Findings suggest that professionals' practice and interventions are predicated on the need to proactively encourage family communication. We discuss this in the context of what guidance of consultands by professionals might be appropriate, as best practices to facilitate family communication, and of the limits to non-directiveness in genetic counselling.

  8. Connecting Gaucher and Parkinson Disease: Considerations for Clinical and Research Genetic Counseling Settings.

    Science.gov (United States)

    Cook, Lola; Schulze, Jeanine

    2017-06-30

    There are multiple autosomal recessive disorders in which carriers may be at risk for other diseases. This observation calls into question the previous understanding that carriers of autosomal recessive disorders escape clinical consequences. We also know that childhood genetic conditions may have adult disease counterparts (Zimran et al., The Israel Medical Association Journal: IMAJ, 16(11), 723-724, 2014). Individuals who have Gaucher disease and carriers of the disorder are at increased risk for a seemingly unrelated and complex neurological condition, Parkinson disease. Parkinson disease is, in part, caused by the same mutations in the GBA gene that lead to Gaucher disease, and the two conditions are thought to have shared pathophysiology. Briefly reviewed are how these two diseases historically became linked, where their paths cross, potential problems and considerations in disclosure of the link, and current guidelines and research in this area. Genetic counseling experience with a large Parkinson disease cohort is used as a starting point to question the state of clinical and nonclinical practice in disclosing this unusual connection We conclude that more research and discussion are needed to inform practice regarding the crossroads of Gaucher and Parkinson disease.

  9. The 'fractionable autism triad': a review of evidence from behavioural, genetic, cognitive and neural research.

    Science.gov (United States)

    Happé, Francesca; Ronald, Angelica

    2008-12-01

    Autism is diagnosed on the basis of a triad of impairments in social interaction, communication, and flexible imaginative functions (with restricted and repetitive behaviors and interests; RRBIs). There has been a strong presumption that these different features of the syndrome are strongly intertwined and proceed from a common cause at the genetic, cognitive and neural levels. In this review we examine evidence for an alternative approach, considering the triad as largely 'fractionable'. We present evidence from our own twin studies, and review relevant literature on autism and autistic-like traits in other groups. We suggest that largely independent genes may operate on social skills/impairments, communication abilities, and RRBIs, requiring a change in molecular-genetic research approaches. At the cognitive level, we suggest that satisfactory accounts exist for each of the triad domains, but no single unitary account can explain both social and nonsocial features of autism. We discuss the implications of the fractionable-triad approach for both diagnosis and future research directions.

  10. Crowdsourcing taste research: genetic and phenotypic predictors of bitter taste perception as a model

    Directory of Open Access Journals (Sweden)

    Nicole L. Garneau

    2014-05-01

    Full Text Available Understanding the influence of taste perception on food choice has captured the interest of academics, industry, and the general public. The latter as evidenced by the extent of popular media coverage and use of the term supertaster. Supertasters are highly sensitive to the bitter tastant propylthiouracil (PROP and its chemical relative phenylthiocarbamide. The well-researched differences in taste sensitivity to these bitter chemicals are partially controlled by variation in the TAS2R38 gene; however this variation alone does not explain the supertaster phenomenon. It has been suggested that density of papillae, which house taste buds, may explain supertasting. To address the unresolved role of papillae, we used crowdsourcing in the museum-based Genetics of Taste Lab. This community lab is uniquely situated to attract both a large population of human subjects and host a team of citizen scientists to research population-based questions about human genetics, taste, and health. Using this model, we find that PROP bitterness is not in any way predicted by papillae density. This result holds within the whole sample, when divided into major diplotypes, and when correcting for age, sex, and genotype. Furthermore, it holds when dividing participants into oft-used taster status groups. These data argue against the use of papillae density in predicting taste sensitivity and caution against imprecise use of the term supertaster. Furthermore, it supports a growing volume of evidence that sets the stage for hyperguesia, a reconceptualization of heightened oral sensitivity that is not based solely on PROP or papillae density. Finally, our model demonstrates how community-based research can serve as a unique venue for both study participation and citizen science that makes scientific research accessible and relevant to people’s everyday lives.

  11. Recruitment of Yoruba families from Nigeria for genetic research: experience from a multisite keloid study.

    Science.gov (United States)

    Olaitan, Peter B; Odesina, Victoria; Ademola, Samuel; Fadiora, Solomon O; Oluwatosin, Odunayo M; Reichenberger, Ernst J

    2014-09-02

    More involvement of sub-Saharan African countries in biomedical studies, specifically in genetic research, is needed to advance individualized medicine that will benefit non-European populations. Missing infrastructure, cultural and religious beliefs as well as lack of understanding of research benefits can pose a challenge to recruitment. Here we describe recruitment efforts for a large genetic study requiring three-generation pedigrees within the Yoruba homelands of Nigeria. The aim of the study was to identify genes responsible for keloids, a wound healing disorder. We also discuss ethical and logistical considerations that we encountered in preparation for this research endeavor. Protocols for this bi-national intercultural study were approved by the Institutional Review Board (IRB) in the US and the ethics committees of the Nigerian institutions for consideration of cultural differences. Principles of community based participatory research were employed throughout the recruitment process. Keloid patients (patient advisors), community leaders, kings/chiefs and medical directors were engaged to assist the research teams with recruitment strategies. Community meetings, church forums, and media outlets (study flyers, radio and TV announcements) were utilized to promote the study in Nigeria. Recruitment of research participants was conducted by trained staff from the local communities. Pedigree structures were re-analyzed on a regular basis as new family members were recruited and recruitment challenges were documented. Total recruitment surpassed 4200 study participants over a 7-year period including 79 families with complete three-generation pedigrees. In 9 families more than 20 family members participated, however, in 5 of these families, we encountered issues with pedigree structure as members from different branches presented inconsistent family histories. These issues were due to the traditional open family structure amongst the Yoruba and by beliefs in

  12. Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: The PDGene database.

    Directory of Open Access Journals (Sweden)

    Christina M Lill

    Full Text Available More than 800 published genetic association studies have implicated dozens of potential risk loci in Parkinson's disease (PD. To facilitate the interpretation of these findings, we have created a dedicated online resource, PDGene, that comprehensively collects and meta-analyzes all published studies in the field. A systematic literature screen of -27,000 articles yielded 828 eligible articles from which relevant data were extracted. In addition, individual-level data from three publicly available genome-wide association studies (GWAS were obtained and subjected to genotype imputation and analysis. Overall, we performed meta-analyses on more than seven million polymorphisms originating either from GWAS datasets and/or from smaller scale PD association studies. Meta-analyses on 147 SNPs were supplemented by unpublished GWAS data from up to 16,452 PD cases and 48,810 controls. Eleven loci showed genome-wide significant (P < 5 × 10(-8 association with disease risk: BST1, CCDC62/HIP1R, DGKQ/GAK, GBA, LRRK2, MAPT, MCCC1/LAMP3, PARK16, SNCA, STK39, and SYT11/RAB25. In addition, we identified novel evidence for genome-wide significant association with a polymorphism in ITGA8 (rs7077361, OR 0.88, P  =  1.3 × 10(-8. All meta-analysis results are freely available on a dedicated online database (www.pdgene.org, which is cross-linked with a customized track on the UCSC Genome Browser. Our study provides an exhaustive and up-to-date summary of the status of PD genetics research that can be readily scaled to include the results of future large-scale genetics projects, including next-generation sequencing studies.

  13. Finding an optimization of the plate element of Egyptian research reactor using genetic algorithm

    Institute of Scientific and Technical Information of China (English)

    WAHED Mohamed; IBRAHIM Wesam; EFFAT Ahmed

    2008-01-01

    The second Egyptian research reactor ET-RR-2 went critical on the 27th of November 1997. The National Center of Nuclear Safety and Radiation Control (NCNSRC) has the responsibility of the evaluation and assessment of the safety of this reactor. The purpose of this paper is to present an approach to optimization of the fuel element plate.For an efficient search through the solution space we use a multi objective genetic algorithm which allows us to identify a set of Pareto optimal solutions providing the decision maker with the complete spectrum of optimal solutions with respect to the various targets. The aim of this paper is to propose a new approach for optimizing the fuel element plate in the reactor. The fuel element plate is designed with a view to improve reliability and lifetime and it is one of the most important elements during the shut down. In this present paper, we present a conceptual design approach for fuel element plate, in conjunction with a genetic algorithm to obtain a fuel plate that maximizes a fitness value to optimize the safety design of the fuel plate.

  14. Editorial: Illuminating the dark matter of developmental neuropsychiatric genetics - strategic focus for future research in child psychology and psychiatry.

    Science.gov (United States)

    Lesch, Klaus-Peter

    2014-03-01

    Research on genetic factors influencing cognitive and behavioural traits or which are central to the aetiology of neuropsychiatric diseases has been complicated by a furtive discrepancy between high heritability estimates and a scarcity of replicable gene-disorder associations. This 'missing heritability' has been either euphemised as the 'dark matter' of gene-trait association or aggravated as the 'looming crisis in behavioural genetics'. Nevertheless, in recognising the importance of this topic for our understanding of child psychiatric conditions and highlighting its commitment to the field, the Journal of Child Psychology and Psychiatry (JCPP) has for the first time appointed an editor with special responsibility for molecular (epi)genetics.

  15. A systematic review evaluating the methodological aspects of meta-analyses of genetic association studies in cancer research

    OpenAIRE

    Boccia, Stefania; De Feo, Emma; Gallì, Paola; Gianfagna, Francesco; Amore, Rosarita; Ricciardi, Gualtiero

    2010-01-01

    Abstract Meta-analyses and Individual Patient Data (IPD) meta-analyses of genetic association studies are a powerful tool to summarize the scientific evidences, however their application present considerable potential and several pitfalls. We reviewed systematically all published meta-analyses and IPD meta-analyses of genetic association studies in the field of cancer research, searching for relevant studies on the Medline, Embase, and HuGE Reviews Archive databases until January 2...

  16. Genetic enhancement for grain yield in chickpea – accomplishments and resetting research agenda

    Directory of Open Access Journals (Sweden)

    S.K. Chaturvedi and N. Nadarajan

    2010-07-01

    attention. With the advent of powerful non-conventional approaches fortransferring genes from wild sources and even other genera, it has become possible to develop resistant cultivars for dreaded insectpest like gram pod borer, Helicoverpa armigera Hubner. Hence potential of biotechnological tools must be exploited. The potentialof molecular marker technology in transferring of targeted traits with utmost efficiency or QTLs/ targeted genes has been discussedalong with efforts on mapping and tagging of genes conferring resistance/tolerance to major diseases and abiotic stresses. Thepresent paper deals with the accomplishments’ made and the research agenda for genetic enhancement of grain yield and productionof chickpea in India in near future.

  17. INFRAVEC: research capacity for the implementation of genetic control of mosquitoes.

    Science.gov (United States)

    Crisanti, Andrea

    2013-12-01

    genetics, and the ecology of Anopheles and Aedes mosquitoes paralleled by the development of new molecular tools for investigating gene function and mosquito ability to transmit parasite and viral diseases. They offer a compelling opportunity to design and validate new genetic vector control measures. The size and the complexity of this undertaking require a high level of capacity, effort, and technological platforms. No laboratory--or even institution--has the resources, the infrastructure capacity, and the expertise to accomplish this task alone. INFRAVEC addresses the need of the scientific community to share facilities and integrate cutting-edge knowledge and technologies that are not readily accessible but nevertheless critical to exploit genetic and genomic information in the effort to control mosquito-borne diseases. Its objective is to provide laboratories that currently operate individually with limited coordination and little sharing of technologies, with the collective research capacity of the laboratories forming the core project infrastructure. INFRAVEC has provided resources to 31 institutions from European and African countries to enhance collaborative links, to execute joint research activity, and most importantly to enable individual researchers (from PhD students to established academics) to carry complex experimental activities by assigning research packages or ‘infrastructure access’ to be executed in the laboratory facilities and infrastructures of INFRAVEC. I report here on the overall activities of INFRAVEC and its impact on the scientific community with the purpose to initiate a dialogue with all stakeholders on its future evolution.

  18. DOG-SPOT database for comprehensive management of dog genetic research data

    Directory of Open Access Journals (Sweden)

    Sutter Nathan B

    2010-12-01

    Full Text Available Abstract Research laboratories studying the genetics of companion animals have no database tools specifically designed to aid in the management of the many kinds of data that are generated, stored and analyzed. We have developed a relational database, "DOG-SPOT," to provide such a tool. Implemented in MS-Access, the database is easy to extend or customize to suit a lab's particular needs. With DOG-SPOT a lab can manage data relating to dogs, breeds, samples, biomaterials, phenotypes, owners, communications, amplicons, sequences, markers, genotypes and personnel. Such an integrated data structure helps ensure high quality data entry and makes it easy to track physical stocks of biomaterials and oligonucleotides.

  19. Scaling ethics up and down: moral craft in clinical genetics and in global health research.

    Science.gov (United States)

    Parker, Michael

    2015-01-01

    This paper engages with the question of what it is to 'do good medical ethics' in two ways. It begins with an exploration of what it might mean to say that health professionals practise good medical ethics as part of practising good ethical medicine. Using the example of the Genethics Club, a well-established national ethics forum for genetics professionals in the UK, the paper develops an account of moral craftsmanship grounded in the concepts of shared moral commitments and practices, moral work, ethics and living morality. In the light of this discussion, the paper goes on to consider what it might mean for a specialist in medical ethics, a bioethicist, to do good medical ethics. Finally, a research agenda focusing on the challenges of thinking about good medical ethics in a global context and a proposal for an innovative approach to bioethics methodology is outlined.

  20. Research on Community Competition and Adaptive Genetic Algorithm for Automatic Generation of Tang Poetry

    Directory of Open Access Journals (Sweden)

    Wujian Yang

    2016-01-01

    Full Text Available As there are many researches about traditional Tang poetry, among which automatically generated Tang poetry has arouse great concern in recent years. This study presents a community-based competition and adaptive genetic algorithm for automatically generating Tang poetry. The improved algorithm with community-based competition that has been added aims to maintain the diversity of genes during evolution; meanwhile, the adaptation means that the probabilities of crossover and mutation are varied from the fitness values of the Tang poetry to prevent premature convergence and generate better poems more quickly. According to the analysis of experimental results, it has been found that the improved algorithm is superior to the conventional method.

  1. The dawn of Aurora kinase research: from fly genetics to the clinic.

    Directory of Open Access Journals (Sweden)

    Mar eCarmena

    2015-11-01

    Full Text Available Aurora kinases comprise a family of highly conserved serine-threonine protein kinases that play a pivotal role in the regulation of cell cycle. Aurora kinases are not only involved in the control of multiple processes during cell division but also coordinate chromosomal and cytoskeletal events, contributing to the regulation of checkpoints and ensuring the smooth progression of the cell cycle.Because of their fundamental contribution to cell cycle regulation, Aurora kinases were originally identified in independent genetic screens designed to find genes involved in the regulation of cell division. The first aurora mutant was part of a collection of mutants isolated in C. Nusslein-Volhard’s laboratory. This collection was screened in D. M. Glover’s laboratory in search for mutations disrupting the centrosome cycle in embryos derived from homozygous mutant mothers. The mutants identified were given names related to the polar regions, and included not only aurora but also the equally famous polo. Ipl1, the only Aurora in yeast, was identified in a genetic screen looking for mutations that caused chromosome segregation defects. The discovery of a second Aurora-like kinase in mammals opened a new chapter in the research of Aurora kinases. The rat kinase AIM was found to be highly homologous to the fly and yeast proteins, but localised at the midzone and midbody and was proposed to have a role in cytokinesis. Homologs of the equatorial Aurora (Aurora B were identified in metazoans ranging from flies to humans. Xenopus Aurora B was found to be in a complex with the chromosomal passenger INCENP, and both proteins were shown to be essential in flies for chromosome structure, segregation, central spindle formation and cytokinesis. Fifteen years on, Aurora kinase research is an active field of research. After the successful introduction of the first anti-mitotic agents in cancer therapy, both Auroras have become the focus of attention as targets for

  2. Genetics as a modernization program: biological research at the Kaiser Wilhelm Institutes and the political economy of the Nazi State.

    Science.gov (United States)

    Gausemeier, Bernd

    2010-01-01

    During the Third Reich, the biological institutes of the Kaiser Wilhelm Society (KWG, Kaiser-Wilhelm-Gesellschaft) underwent a substantial reorganization and modernization. This paper discusses the development of projects in the fields of biochemical genetics, virus research, radiation genetics, and plant genetics that were initiated in those years. These cases exemplify, on the one hand, the political conditions for biological research in the Nazi state. They highlight how leading scientists advanced their projects by building close ties with politicians and science-funding organizations and companies. On the other hand, the study examines how the contents of research were shaped by, and how they contributed to, the aims and needs of the political economy of the Nazi system. This paper therefore aims not only to highlight basic aspects of scientific development under Nazism, but also to provide general insights into the structure of the Third Reich and the dynamics of its war economy.

  3. Research on Intellectual Property Rights Protection of Agricultural Plant Genetic Resources in China

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    On the basis of definition of agricultural plant genetic resources,this paper takes the two most important forms of intellectual property protection regarding agricultural plant genetic resources-patent rights and new plant variety rights as an example,to expound the current situation of intellectual property protection of agricultural plant genetic resources in China.It reveals the problems of intellectual property protection as follows:the awareness of intellectual property protection of agricultural plant genetic resources is weak;the system of laws and regulations is not sound;the protection system is not perfect;the management system lacks standardization.It further puts forward corresponding countermeasures and suggestions as follows:promote the protection awareness of agricultural plant genetic resources in whole society;enact special law system to protect agricultural plant genetic resources;improve the management system of agricultural plant genetic resources;strengthen the international protection of agricultural plant genetic resources in China.

  4. Design and Implementation of the International Genetics and Translational Research in Transplantation Network

    NARCIS (Netherlands)

    Keating, Brendan J.; van Setten, Jessica; Jacobson, Pamala A.; Holmes, Michael V.; Verma, Shefali S.; Chandrupatla, Hareesh R.; Nair, Nikhil; Gao, Hui; Li, Yun R.; Chang, Bao-Li; Wong, Chanel; Phillips, Randy; Cole, Brian S.; Mukhtar, Eyas; Zhang, Weijia; Cao, Hongzhi; Mohebnasab, Maede; Hou, Cuiping; Lee, Takesha; Steel, Laura; Shaked, Oren; Garifallou, James; Miller, Michael B.; Karczewski, Konrad J.; Akdere, Abdullah; Gonzalez, Ana; Lloyd, Kelsey M.; McGinn, Daniel; Michaud, Zach; Colasacco, Abigail; Lek, Monkol; Fu, Yao; Pawashe, Mayur; Guettouche, Toumy; Himes, Aubree; Perez, Leat; Guan, Weihua; Wu, Baolin; Schladt, David; Menon, Madhav; Zhang, Zhongyang; Tragante, Vinicius; de Jonge, Nicolaas; Otten, Henny G.; de Weger, Roel A.; van de Graaf, Ed A.; Baan, Carla C.; Manintveld, Olivier C.; De Vlaminck, Iwijn; Piening, Brian D.; Strehl, Calvin; Shaw, Mary; Snieder, Harold; Klintmalm, Goran B.; O'Leary, Jacqueline G.; Amaral, Sandra; Goldfarb, Samuel; Rand, Elizabeth; Rossano, Joseph W.; Kohli, Utkarsh; Heeger, Peter; Stahl, Eli; Christie, Jason D.; Fuentes, Maria Hernandez; Levine, John E.; Aplenc, Richard; Schadt, Eric E.; Stranger, Barbara E.; Kluin, Jolanda; Potena, Luciano; Zuckermann, Andreas; Khush, Kiran; Alzahrani, Alhusain J.; Al-Muhanna, Fahad A.; Al-Ali, Amein K.; Al-Ali, Rudaynah; Al-Rubaish, Abdullah M.; Al-Mueilo, Samir; Byrne, Edna M.; Miller, David; Alexander, Stephen I.; Onengut-Gumuscu, Suna; Rich, Stephen S.; Suthanthiran, Manikkam; Tedesco, Helio; Saw, Chee L.; Ragoussis, Jiannis; Kfoury, Abdallah G.; Horne, Benjamin; Carlquist, John; Gerstein, Mark B.; Reindl-Schwaighofer, Roman; Oberbauer, Rainer; Wijmenga, Cisca; Palmer, Scott; Pereira, Alexandre C.; Segovia, Javier; Alonso-Pulpon, Luis A.; Comez-Bueno, Manuel; Vilches, Carlos; Jaramillo, Natalia; de Borst, Martin H.; Naesens, Maarten; Hao, Ke; MacArthur, DanielG.; Balasubramanian, Suganthi; Conlon, Peter J.; Lord, Graham M.; Ritchie, Marylyn D.; Snyder, Michael; Olthoff, Kim M.; Moore, Jason H.; Petersdorf, Effie W.; Kamoun, Malek; Wang, Jun; Monos, Dimitri S.; de Bakker, Paul I. W.; Hakonarson, Hakon; Murphy, Barbara; Lankree, Matthew B.; Garcia-Pavia, Pablo; Oetting, William S.; Birdwell, Kelly A.; Bakker, Stephan J. L.; Israni, Ajay K.; Shaked, Abraham; Asselbergs, Folkert W.

    2015-01-01

    Background. Genetic association studies of transplantation outcomes have been hampered by small samples and highly complex multifactorial phenotypes, hindering investigations of the genetic architecture of a range of comorbidities which significantly impact graft and recipient life expectancy. We de

  5. Design and Implementation of the International Genetics and Translational Research in Transplantation Network

    NARCIS (Netherlands)

    Keating, Brendan J.; van Setten, Jessica; Jacobson, Pamala A.; Holmes, Michael V.; Verma, Shefali S.; Chandrupatla, Hareesh R.; Nair, Nikhil; Gao, Hui; Li, Yun R.; Chang, Bao-Li; Wong, Chanel; Phillips, Randy; Cole, Brian S.; Mukhtar, Eyas; Zhang, Weijia; Cao, Hongzhi; Mohebnasab, Maede; Hou, Cuiping; Lee, Takesha; Steel, Laura; Shaked, Oren; Garifallou, James; Miller, Michael B.; Karczewski, Konrad J.; Akdere, Abdullah; Gonzalez, Ana; Lloyd, Kelsey M.; McGinn, Daniel; Michaud, Zach; Colasacco, Abigail; Lek, Monkol; Fu, Yao; Pawashe, Mayur; Guettouche, Toumy; Himes, Aubree; Perez, Leat; Guan, Weihua; Wu, Baolin; Schladt, David; Menon, Madhav; Zhang, Zhongyang; Tragante, Vinicius; de Jonge, Nicolaas; Otten, Henny G.; de Weger, Roel A.; van de Graaf, Ed A.; Baan, Carla C.; Manintveld, Olivier C.; De Vlaminck, Iwijn; Piening, Brian D.; Strehl, Calvin; Shaw, Mary; Snieder, Harold; Klintmalm, Goran B.; O'Leary, Jacqueline G.; Amaral, Sandra; Goldfarb, Samuel; Rand, Elizabeth; Rossano, Joseph W.; Kohli, Utkarsh; Heeger, Peter; Stahl, Eli; Christie, Jason D.; Fuentes, Maria Hernandez; Levine, John E.; Aplenc, Richard; Schadt, Eric E.; Stranger, Barbara E.; Kluin, Jolanda; Potena, Luciano; Zuckermann, Andreas; Khush, Kiran; Alzahrani, Alhusain J.; Al-Muhanna, Fahad A.; Al-Ali, Amein K.; Al-Ali, Rudaynah; Al-Rubaish, Abdullah M.; Al-Mueilo, Samir; Byrne, Edna M.; Miller, David; Alexander, Stephen I.; Onengut-Gumuscu, Suna; Rich, Stephen S.; Suthanthiran, Manikkam; Tedesco, Helio; Saw, Chee L.; Ragoussis, Jiannis; Kfoury, Abdallah G.; Horne, Benjamin; Carlquist, John; Gerstein, Mark B.; Reindl-Schwaighofer, Roman; Oberbauer, Rainer; Wijmenga, Cisca; Palmer, Scott; Pereira, Alexandre C.; Segovia, Javier; Alonso-Pulpon, Luis A.; Comez-Bueno, Manuel; Vilches, Carlos; Jaramillo, Natalia; de Borst, Martin H.; Naesens, Maarten; Hao, Ke; MacArthur, DanielG.; Balasubramanian, Suganthi; Conlon, Peter J.; Lord, Graham M.; Ritchie, Marylyn D.; Snyder, Michael; Olthoff, Kim M.; Moore, Jason H.; Petersdorf, Effie W.; Kamoun, Malek; Wang, Jun; Monos, Dimitri S.; de Bakker, Paul I. W.; Hakonarson, Hakon; Murphy, Barbara; Lankree, Matthew B.; Garcia-Pavia, Pablo; Oetting, William S.; Birdwell, Kelly A.; Bakker, Stephan J. L.; Israni, Ajay K.; Shaked, Abraham; Asselbergs, Folkert W.

    2015-01-01

    Background. Genetic association studies of transplantation outcomes have been hampered by small samples and highly complex multifactorial phenotypes, hindering investigations of the genetic architecture of a range of comorbidities which significantly impact graft and recipient life expectancy. We de

  6. Design and Implementation of the International Genetics and Translational Research in Transplantation Network

    NARCIS (Netherlands)

    Keating, Brendan J.; van Setten, Jessica; Jacobson, Pamala A.; Holmes, Michael V.; Verma, Shefali S.; Chandrupatla, Hareesh R.; Nair, Nikhil; Gao, Hui; Li, Yun R.; Chang, Bao-Li; Wong, Chanel; Phillips, Randy; Cole, Brian S.; Mukhtar, Eyas; Zhang, Weijia; Cao, Hongzhi; Mohebnasab, Maede; Hou, Cuiping; Lee, Takesha; Steel, Laura; Shaked, Oren; Garifallou, James; Miller, Michael B.; Karczewski, Konrad J.; Akdere, Abdullah; Gonzalez, Ana; Lloyd, Kelsey M.; McGinn, Daniel; Michaud, Zach; Colasacco, Abigail; Lek, Monkol; Fu, Yao; Pawashe, Mayur; Guettouche, Toumy; Himes, Aubree; Perez, Leat; Guan, Weihua; Wu, Baolin; Schladt, David; Menon, Madhav; Zhang, Zhongyang; Tragante, Vinicius; de Jonge, Nicolaas; Otten, Henny G.; de Weger, Roel A.; van de Graaf, Ed A.; Baan, Carla C.; Manintveld, Olivier C.; De Vlaminck, Iwijn; Piening, Brian D.; Strehl, Calvin; Shaw, Mary; Snieder, Harold; Klintmalm, Goran B.; O'Leary, Jacqueline G.; Amaral, Sandra; Goldfarb, Samuel; Rand, Elizabeth; Rossano, Joseph W.; Kohli, Utkarsh; Heeger, Peter; Stahl, Eli; Christie, Jason D.; Fuentes, Maria Hernandez; Levine, John E.; Aplenc, Richard; Schadt, Eric E.; Stranger, Barbara E.; Kluin, Jolanda; Potena, Luciano; Zuckermann, Andreas; Khush, Kiran; Alzahrani, Alhusain J.; Al-Muhanna, Fahad A.; Al-Ali, Amein K.; Al-Ali, Rudaynah; Al-Rubaish, Abdullah M.; Al-Mueilo, Samir; Byrne, Edna M.; Miller, David; Alexander, Stephen I.; Onengut-Gumuscu, Suna; Rich, Stephen S.; Suthanthiran, Manikkam; Tedesco, Helio; Saw, Chee L.; Ragoussis, Jiannis; Kfoury, Abdallah G.; Horne, Benjamin; Carlquist, John; Gerstein, Mark B.; Reindl-Schwaighofer, Roman; Oberbauer, Rainer; Wijmenga, Cisca; Palmer, Scott; Pereira, Alexandre C.; Segovia, Javier; Alonso-Pulpon, Luis A.; Comez-Bueno, Manuel; Vilches, Carlos; Jaramillo, Natalia; de Borst, Martin H.; Naesens, Maarten; Hao, Ke; MacArthur, DanielG.; Balasubramanian, Suganthi; Conlon, Peter J.; Lord, Graham M.; Ritchie, Marylyn D.; Snyder, Michael; Olthoff, Kim M.; Moore, Jason H.; Petersdorf, Effie W.; Kamoun, Malek; Wang, Jun; Monos, Dimitri S.; de Bakker, Paul I. W.; Hakonarson, Hakon; Murphy, Barbara; Lankree, Matthew B.; Garcia-Pavia, Pablo; Oetting, William S.; Birdwell, Kelly A.; Bakker, Stephan J. L.; Israni, Ajay K.; Shaked, Abraham; Asselbergs, Folkert W.

    2015-01-01

    Background. Genetic association studies of transplantation outcomes have been hampered by small samples and highly complex multifactorial phenotypes, hindering investigations of the genetic architecture of a range of comorbidities which significantly impact graft and recipient life expectancy. We

  7. Recent progress in genetic and epigenetic research on type 2 diabetes

    OpenAIRE

    Kwak, Soo Heon; Park, Kyong Soo

    2016-01-01

    Type 2 diabetes (T2DM) is a common complex metabolic disorder that has a strong genetic predisposition. During the past decade, progress in genetic association studies has enabled the identification of at least 75 independent genetic loci for T2DM, thus allowing a better understanding of the genetic architecture of T2DM. International collaborations and large-scale meta-analyses of genome-wide association studies have made these achievements possible. However, whether the identified common va...

  8. RESEARCH OF QUANTUM GENETIC ALGORITH AND ITS APPLICATION IN BLIND SOURCE SEPARATION

    Institute of Scientific and Technical Information of China (English)

    Yang Junan; Li Bin; Zhuang Zhenquan

    2003-01-01

    This letter proposes two algorithms: a novel Quantum Genetic Algorithm (QGA)based on the improvement of Han's Genetic Quantum Algorithm (GQA) and a new Blind Source Separation (BSS) method based on QGA and Independent Component Analysis (ICA). The simulation result shows that the efficiency of the new BSS method is obviously higher than that of the Conventional Genetic Algorithm (CGA).

  9. Problems in Psychiatric Genetic Research: A Reply to Faraone and Biederman.

    Science.gov (United States)

    Joseph, Jay

    2000-01-01

    Answers the most important criticisms by Faraone and Biederman in their critique of Joseph's analysis of evidence supporting a genetic basis of attention deficit hyperactivity disorder. Argues that possible genetic and environmental influences in ADHD twin studies are confounded, obscuring inferences about genetic factors. (JPB)

  10. Critical need for family-based, quasi-experimental designs in integrating genetic and social science research.

    Science.gov (United States)

    D'Onofrio, Brian M; Lahey, Benjamin B; Turkheimer, Eric; Lichtenstein, Paul

    2013-10-01

    Researchers have identified environmental risks that predict subsequent psychological and medical problems. Based on these correlational findings, researchers have developed and tested complex developmental models and have examined biological moderating factors (e.g., gene-environment interactions). In this context, we stress the critical need for researchers to use family-based, quasi-experimental designs when trying to integrate genetic and social science research involving environmental variables because these designs rigorously examine causal inferences by testing competing hypotheses. We argue that sibling comparison, offspring of twins or siblings, in vitro fertilization designs, and other genetically informed approaches play a unique role in bridging gaps between basic biological and social science research. We use studies on maternal smoking during pregnancy to exemplify these principles.

  11. [Research progress on the cloning of Mendel's gene in pea (Pisum sativum L.) and its application in genetics teaching].

    Science.gov (United States)

    He, Feng-Hua; Zhu, Bi-Yan; Gao, Feng; Li, Shao-Shan; Li, Niang-Hui

    2013-07-01

    One hundred and fifty years ago, Gregor Mendel investigated the segregation of seven traits in pea (Pisum sativum) and established the law of segregation and the law of independent assortment in genetics. After the two laws of genetics were rediscovered in 1900, the seven traits have been extensively investigated in the fields of plant physiology and biochemistry as well as in the cell and molecular levels. Recently, with the development of molecular technology in genetics, four genes for seed shape (R), stem length (Le), cotyledon colour (I), and flower colour (A) have been cloned and sequenced; and another three genes for immature pod colour (Gp), fasciation (Fa) and pod form (V) have been located in the linkage groups, respectively. The identification and cloning of the four Mendel's genes will help deeply understand the basic concept of gene in many respects: like the diversity of gene function, the different origins for gene mutation in molecular level, and the molecular nature of a dominant gene or a recessive gene. In teaching of genetics, the introduction of most recent research advancements of cloning of Mendel's genes to the students and the interpretation of the Mendel's laws in molecular level will help students promote their learning interests in genetics and help students grasp the whole content from classical genetics to molecular genetics and the developmental direction of this subject.

  12. metabolicMine: an integrated genomics, genetics and proteomics data warehouse for common metabolic disease research.

    Science.gov (United States)

    Lyne, Mike; Smith, Richard N; Lyne, Rachel; Aleksic, Jelena; Hu, Fengyuan; Kalderimis, Alex; Stepan, Radek; Micklem, Gos

    2013-01-01

    Common metabolic and endocrine diseases such as diabetes affect millions of people worldwide and have a major health impact, frequently leading to complications and mortality. In a search for better prevention and treatment, there is ongoing research into the underlying molecular and genetic bases of these complex human diseases, as well as into the links with risk factors such as obesity. Although an increasing number of relevant genomic and proteomic data sets have become available, the quantity and diversity of the data make their efficient exploitation challenging. Here, we present metabolicMine, a data warehouse with a specific focus on the genomics, genetics and proteomics of common metabolic diseases. Developed in collaboration with leading UK metabolic disease groups, metabolicMine integrates data sets from a range of experiments and model organisms alongside tools for exploring them. The current version brings together information covering genes, proteins, orthologues, interactions, gene expression, pathways, ontologies, diseases, genome-wide association studies and single nucleotide polymorphisms. Although the emphasis is on human data, key data sets from mouse and rat are included. These are complemented by interoperation with the RatMine rat genomics database, with a corresponding mouse version under development by the Mouse Genome Informatics (MGI) group. The web interface contains a number of features including keyword search, a library of Search Forms, the QueryBuilder and list analysis tools. This provides researchers with many different ways to analyse, view and flexibly export data. Programming interfaces and automatic code generation in several languages are supported, and many of the features of the web interface are available through web services. The combination of diverse data sets integrated with analysis tools and a powerful query system makes metabolicMine a valuable research resource. The web interface makes it accessible to first

  13. Research Regarding the New Biodiversity Indicators in Genetic Diversity of the Region -Country Hateg

    Directory of Open Access Journals (Sweden)

    Iudith Ipate

    2010-05-01

    Full Text Available The present research started in June 2009 by identification of the species and breeds in the livestock of the 11 villages and 1 town existing in the Hatseg Land area. We use the modern genotyping tool for the study of zootechnical biodiversity- molecular biology tests- based on identification, amplification and characterization of nucleic acid, revolutionized the conservation of indigene animal genetic resources, gene assisted selection, pathology diagnostic and food traceability. The original Tipy Fix methods – internatinal patented by Prof.Brem - that were used in Romania (using for the first time in Romania by the researchers of CSCBA to reveal DNA polymorphism are described as their applicability in species identification and meat traceability. Vulnerability of farm animal breeds is caused by the lack of interest apart breeders for one breed. In Hateg land area the main mean of reducing biodiversity in farm animals is the crossbreeding. It was analysis the prion protein for scrapie resistance genotyping as codonamino acid at codon 136, 154, 171 from 5 known haplotypes resulting PrP Genotype .In results of analysis in Hateg country 41 the probes present the arginine (R at codon 171 of the prion protein who confers resistance to the structural change of prion scrapie.We presented biodiversity indicator for domestic animal in Hateg country.

  14. Progress of Quail Genetic Research in China%中国鹌鹑遗传研究进展

    Institute of Scientific and Technical Information of China (English)

    潘爱銮; 皮劲松; 杜金平; 申杰; 吴艳; 梁振华; 蒲跃进; 孙静; 陈志华

    2012-01-01

    综述了近30年来中国鹌鹑遗传研究进展,主要介绍了包括形态学、细胞学、生物化学、分子生物学遗传标记在内的鹌鹑遗传标记及鹌鹑遗传参数、遗传基因与鹌鹑在遗传教学实验中的应用研究动态.%The progress of quail genetic research in China for the past 30 years was reviewed mainly from the aspects of the advances of quail genetic markers (including morphology, cytology, biochemistry, molecular genetic markers), genetic parameters, genes and application in hereditary teaching experiment.

  15. Knowing and doing: research leading to action in the conservation of forest genetic diversity of Patagonian temperate forests.

    Science.gov (United States)

    Gallo, Leonardo A; Marchelli, Paula; Chauchard, Luis; Peñalba, Marcelo Gonzalez

    2009-08-01

    Researchers dealing with conservation subjects usually do not put the results of their work into practice, even when the primary purpose of their research is the preservation of biodiversity. In the South American temperate forests we identified an area with the highest genetic diversity in Argentina of Nothofagus nervosa, one of the most relevant southern beech species. Based on the information of our scientific study and our recommendations, the authorities of Lanin National Park changed the protection status of this area to avoid logging. The new forestry management plans include consideration of "high genetic diversity" in decisions on where logging will be allowed. Results of our initial genetic study induced the analysis of biodiversity at the species and ecosystems levels, which yielded results similar to our genetic studies. A strong connection among researchers and managers from the onset of our study and the awareness of the former about the importance of the implementation of the research work were key to bridging the gap between conservation research and conservation practice.

  16. Potential Implications of Research on Genetic or Heritable Contributions to Pedophilia for the Objectives of Criminal Law

    Science.gov (United States)

    Berryessa, Colleen M.

    2015-01-01

    In recent years, there has been increasing scientific research on possible genetic or heritable influences to the etiology of pedophilia, driven by national and public concerns about better understanding the disorder in order to reduce children’s vulnerabilities to pedophilic and child sex offenders. This research has corresponded to growing academic dialogue on how advances in genetic research, especially concerning the causes and development of particular mental disorders or behaviors, may affect traditional practices of criminal law and how the justice system views, manages, and adjudicates different types of criminal behavior and offenders. This paper strives to supplement this dialogue by exploring several of the many possible effects and implications of research surrounding genetic or heritable contributions to pedophilia for the five widely accepted objectives that enforce and regulate the punishment of criminal law. These include retribution, incapacitation, deterrence, rehabilitation, and restoration. Although still currently in early stages, genetic and heritability research on the etiology of pedophilia may have the potential moving forward to influence the current and established punitive methods and strategies of how the justice system perceives, adjudicates, regulates, and punishes pedophilic and sex offenders, as well as how to best prevent sexual offending against children by pedophilic offenders in the future. PMID:25557668

  17. Potential implications of research on genetic or heritable contributions to pedophilia for the objectives of criminal law.

    Science.gov (United States)

    Berryessa, Colleen M

    2014-01-01

    In recent years, there has been increasing scientific research on possible genetic or heritable influences to the etiology of pedophilia, driven by national and public concerns about better understanding the disorder in order to reduce children's vulnerabilities to pedophilic and child sex offenders. This research has corresponded to growing academic dialogue on how advances in genetic research, especially concerning the causes and development of particular mental disorders or behaviors, may affect traditional practices of criminal law and how the justice system views, manages, and adjudicates different types of criminal behavior and offenders. This paper strives to supplement this dialogue by exploring several of the many possible effects and implications of research surrounding genetic or heritable contributions to pedophilia for the five widely accepted objectives that enforce and regulate the punishment of criminal law. These include retribution, incapacitation, deterrence, rehabilitation, and restoration. Although still currently in early stages, genetic and heritability research on the etiology of pedophilia may have the potential moving forward to influence the current and established punitive methods and strategies of how the justice system perceives, adjudicates, regulates, and punishes pedophilic and sex offenders, as well as how to best prevent sexual offending against children by pedophilic offenders in the future.

  18. Genetically engineered livestock for agriculture: a generation after the first transgenic animal research conference.

    Science.gov (United States)

    Murray, James D; Maga, Elizabeth A

    2016-06-01

    At the time of the first Transgenic Animal Research Conference, the lack of knowledge about promoter, enhancer and coding regions of genes of interest greatly hampered our efforts to create transgenes that would express appropriately in livestock. Additionally, we were limited to gene insertion by pronuclear microinjection. As predicted then, widespread genome sequencing efforts and technological advancements have profoundly altered what we can do. There have been many developments in technology to create transgenic animals since we first met at Granlibakken in 1997, including the advent of somatic cell nuclear transfer-based cloning and gene editing. We can now create new transgenes that will express when and where we want and can target precisely in the genome where we want to make a change or insert a transgene. With the large number of sequenced genomes, we have unprecedented access to sequence information including, control regions, coding regions, and known allelic variants. These technological developments have ushered in new and renewed enthusiasm for the production of transgenic animals among scientists and animal agriculturalists around the world, both for the production of more relevant biomedical research models as well as for agricultural applications. However, even though great advancements have been made in our ability to control gene expression and target genetic changes in our animals, there still are no genetically engineered animal products on the market for food. World-wide there has been a failure of the regulatory processes to effectively move forward. Estimates suggest the world will need to increase our current food production 70 % by 2050; that is we will have to produce the total amount of food each year that has been consumed by mankind over the past 500 years. The combination of transgenic animal technology and gene editing will become increasingly more important tools to help feed the world. However, to date the practical benefits of

  19. Introducing the Forensic Research/Reference on Genetics knowledge base, FROG-kb

    Directory of Open Access Journals (Sweden)

    Rajeevan Haseena

    2012-09-01

    Full Text Available Abstract Background Online tools and databases based on multi-allelic short tandem repeat polymorphisms (STRPs are actively used in forensic teaching, research, and investigations. The Fst value of each CODIS marker tends to be low across the populations of the world and most populations typically have all the common STRP alleles present diminishing the ability of these systems to discriminate ethnicity. Recently, considerable research is being conducted on single nucleotide polymorphisms (SNPs to be considered for human identification and description. However, online tools and databases that can be used for forensic research and investigation are limited. Methods The back end DBMS (Database Management System for FROG-kb is Oracle version 10. The front end is implemented with specific code using technologies such as Java, Java Servlet, JSP, JQuery, and GoogleCharts. Results We present an open access web application, FROG-kb (Forensic Research/Reference on Genetics-knowledge base, http://frog.med.yale.edu, that is useful for teaching and research relevant to forensics and can serve as a tool facilitating forensic practice. The underlying data for FROG-kb are provided by the already extensively used and referenced ALlele FREquency Database, ALFRED (http://alfred.med.yale.edu. In addition to displaying data in an organized manner, computational tools that use the underlying allele frequencies with user-provided data are implemented in FROG-kb. These tools are organized by the different published SNP/marker panels available. This web tool currently has implemented general functions possible for two types of SNP panels, individual identification and ancestry inference, and a prediction function specific to a phenotype informative panel for eye color. Conclusion The current online version of FROG-kb already provides new and useful functionality. We expect FROG-kb to grow and expand in capabilities and welcome input from the forensic community in

  20. Introducing the Forensic Research/Reference on Genetics knowledge base, FROG-kb

    Science.gov (United States)

    2012-01-01

    Background Online tools and databases based on multi-allelic short tandem repeat polymorphisms (STRPs) are actively used in forensic teaching, research, and investigations. The Fst value of each CODIS marker tends to be low across the populations of the world and most populations typically have all the common STRP alleles present diminishing the ability of these systems to discriminate ethnicity. Recently, considerable research is being conducted on single nucleotide polymorphisms (SNPs) to be considered for human identification and description. However, online tools and databases that can be used for forensic research and investigation are limited. Methods The back end DBMS (Database Management System) for FROG-kb is Oracle version 10. The front end is implemented with specific code using technologies such as Java, Java Servlet, JSP, JQuery, and GoogleCharts. Results We present an open access web application, FROG-kb (Forensic Research/Reference on Genetics-knowledge base, http://frog.med.yale.edu), that is useful for teaching and research relevant to forensics and can serve as a tool facilitating forensic practice. The underlying data for FROG-kb are provided by the already extensively used and referenced ALlele FREquency Database, ALFRED (http://alfred.med.yale.edu). In addition to displaying data in an organized manner, computational tools that use the underlying allele frequencies with user-provided data are implemented in FROG-kb. These tools are organized by the different published SNP/marker panels available. This web tool currently has implemented general functions possible for two types of SNP panels, individual identification and ancestry inference, and a prediction function specific to a phenotype informative panel for eye color. Conclusion The current online version of FROG-kb already provides new and useful functionality. We expect FROG-kb to grow and expand in capabilities and welcome input from the forensic community in identifying datasets and

  1. Early 20th-century research at the interfaces of genetics, development, and evolution: reflections on progress and dead ends.

    Science.gov (United States)

    Deichmann, Ute

    2011-09-01

    Three early 20th-century attempts at unifying separate areas of biology, in particular development, genetics, physiology, and evolution, are compared in regard to their success and fruitfulness for further research: Jacques Loeb's reductionist project of unifying approaches by physico-chemical explanations; Richard Goldschmidt's anti-reductionist attempts to unify by integration; and Sewall Wright's combination of reductionist research and vision of hierarchical genetic systems. Loeb's program, demanding that all aspects of biology, including evolution, be studied by the methods of the experimental sciences, proved highly successful and indispensible for higher level investigations, even though evolutionary change and properties of biological systems up to now cannot be fully explained on the molecular level alone. Goldschmidt has been appraised as pioneer of physiological and developmental genetics and of a new evolutionary synthesis which transcended neo-Darwinism. However, this study concludes that his anti-reductionist attempts to integrate genetics, development and evolution have to be regarded as failures or dead ends. His grand speculations were based on the one hand on concepts and experimental systems that were too vague in order to stimulate further research, and on the other on experiments which in their core parts turned out not to be reproducible. In contrast, Sewall Wright, apart from being one of the architects of the neo-Darwinian synthesis of the 1930s, opened up new paths of testable quantitative developmental genetic investigations. He placed his research within a framework of logical reasoning, which resulted in the farsighted speculation that examinations of biological systems should be related to the regulation of hierarchical genetic subsystems, possibly providing a mechanism for development and evolution. I argue that his suggestion of basing the study of systems on clearly defined properties of the components has proved superior to

  2. Experts' opinions on ethical issues of genetic research into Alzheimer's disease: results of a Delphi study in the Netherlands.

    NARCIS (Netherlands)

    Vorm, A. van der; Laan, A.L. van der; Borm, G.F.; Vernooij-Dassen, M.J.F.J.; Olde Rikkert, M.G.M.; Leeuwen, E. van; Dekkers, W.J.M.

    2010-01-01

    Most publications on the ethical aspects of genetic research into Alzheimer's Disease (AD) concentrate on the differences between the opinions of professionals and non-professionals. Differences in rating of morally relevant issues between groups of professionals have not yet been described. A modif

  3. Aquaculture genomics, genetics and breeding in the United States: current status, challenges, and priorities for future research

    Science.gov (United States)

    The ultimate goals of aquaculture genomics, genetics and breeding research are to enhance aquaculture production efficiency, sustainability, product quality, and profitability in support of the commercial sector and for the benefit of consumers. In order to achieve these goals, it is important to un...

  4. RESEARCH OF QUANTUM GENETIC ALGORITH AND ITS APPLICATION IN BLIND SOURCE SEPARATION

    Institute of Scientific and Technical Information of China (English)

    YangJunan; LiBin; 等

    2003-01-01

    This letter proposes two algorithns:a novel Quantum Genetic Algorithm(QGA)based on the improvement of Han's Genetic Quantum Algorithm(GQA)and a new Blind Source Separation(BSS)method based on QGA and Independent Component Analysis(ICA).The simulation result shows that the efficiency of the new BSS nethod is obviously higher than that of the Conventional Genetic Algorithm(CGA).

  5. Update on Abdominal Aortic Aneurysm Research: From Clinical to Genetic Studies

    Directory of Open Access Journals (Sweden)

    Helena Kuivaniemi

    2014-01-01

    Full Text Available An abdominal aortic aneurysm (AAA is a dilatation of the abdominal aorta with a diameter of at least 3.0 cm. AAAs are often asymptomatic and are discovered as incidental findings in imaging studies or when the AAA ruptures leading to a medical emergency. AAAs are more common in males than females, in individuals of European ancestry, and in those over 65 years of age. Smoking is the most important environmental risk factor. In addition, a positive family history of AAA increases the person’s risk for AAA. Interestingly, diabetes has been shown to be a protective factor for AAA in many large studies. Hallmarks of AAA pathogenesis include inflammation, vascular smooth muscle cell apoptosis, extracellular matrix degradation, and oxidative stress. Autoimmunity may also play a role in AAA development and progression. In this Outlook paper, we summarize our recent studies on AAA including clinical studies related to surgical repair of AAA and genetic risk factor and large-scale gene expression studies. We conclude with a discussion on our research projects using large data sets available through electronic medical records and biobanks.

  6. A CRISPR Path to Engineering New Genetic Mouse Models for Cardiovascular Research

    Science.gov (United States)

    Miano, Joseph M.; Zhu, Qiuyu Martin; Lowenstein, Charles J.

    2016-01-01

    Previous efforts to target the mouse genome for the addition, subtraction, or substitution of biologically informative sequences required complex vector design and a series of arduous steps only a handful of labs could master. The facile and inexpensive clustered regularly interspaced short palindromic repeats (CRISPR) method has now superseded traditional means of genome modification such that virtually any lab can quickly assemble reagents for developing new mouse models for cardiovascular research. Here we briefly review the history of CRISPR in prokaryotes, highlighting major discoveries leading to its formulation for genome modification in the animal kingdom. Core components of CRISPR technology are reviewed and updated. Practical pointers for two-component and three-component CRISPR editing are summarized with a number of applications in mice including frameshift mutations, deletion of enhancers and non-coding genes, nucleotide substitution of protein-coding and gene regulatory sequences, incorporation of loxP sites for conditional gene inactivation, and epitope tag integration. Genotyping strategies are presented and topics of genetic mosaicism and inadvertent targeting discussed. Finally, clinical applications and ethical considerations are addressed as the biomedical community eagerly embraces this astonishing innovation in genome editing to tackle previously intractable questions. PMID:27102963

  7. Twin Studies and Their Implications for Molecular Genetic Studies: Endophenotypes Integrate Quantitative and Molecular Genetics in ADHD Research

    Science.gov (United States)

    Wood, Alexis C.; Neale, Michael C.

    2010-01-01

    Objective: To describe the utility of twin studies for attention-deficit/hyperactivity disorder (ADHD) research and demonstrate their potential for the identification of alternative phenotypes suitable for genomewide association, developmental risk assessment, treatment response, and intervention targets. Method: Brief descriptions of the classic…

  8. Applications of landscape genetics to connectivity research in terrestrial animals [Chapter 12

    Science.gov (United States)

    Lisette P. Waits; Samuel A. Cushman; Steve F. Spear

    2016-01-01

    Landscape genetic studies have focused on terrestrial animals more than any other taxonomic group. This chapter focuses on applications of landscape genetics for understanding connectivity of terrestrial animal populations. It starts with a general introduction covering unique characteristics and challenges of the terrestrial study system. This is followed by...

  9. Behavioral trait genetics in mice; Opportunities for translational research of psychiatric endophenotypes

    NARCIS (Netherlands)

    Mooij-van Malsen, J.G. de

    2009-01-01

    Mood disorders have powerful effects on the lives of many people. Finding the mechanisms underlying these disorders is essential to develop selective treatment. In this thesis, interspecies trait genetics are used on behavioural domains to unravel the complex genetics of involved endophenotypes. We

  10. Computers in Biological Education: Simulation Approaches. Genetics and Evolution. CAL Research Group Technical Report No. 13.

    Science.gov (United States)

    Murphy, P. J.

    Three examples of genetics and evolution simulation concerning Mendelian inheritance, genetic mapping, and natural selection are used to illustrate the use of simulations in modeling scientific/natural processes. First described is the HERED series, which illustrates such phenomena as incomplete dominance, multiple alleles, lethal alleles,…

  11. Methods in Molecular Biology Mouse Genetics: Methods and Protocols | Center for Cancer Research

    Science.gov (United States)

    Mouse Genetics: Methods and Protocols provides selected mouse genetic techniques and their application in modeling varieties of human diseases. The chapters are mainly focused on the generation of different transgenic mice to accomplish the manipulation of genes of interest, tracing cell lineages, and modeling human diseases.

  12. The New Human Genetics. How Gene Splicing Helps Researchers Fight Inherited Disease.

    Science.gov (United States)

    Pines, Maya

    The science of genetics is perceived to offer hope that a large number of the 3,000 inherited diseases which afflict human beings may be prevented or controlled. This document addresses some of the advances that have been made in this field. It includes an introduction and sections on: "The Beginning of Human Genetics"; "Unlocking the Secrets of…

  13. Prediction and Research on Vegetable Price Based on Genetic Algorithm and Neural Network Model

    Institute of Scientific and Technical Information of China (English)

    2011-01-01

    Considering the complexity of vegetables price forecast,the prediction model of vegetables price was set up by applying the neural network based on genetic algorithm and using the characteristics of genetic algorithm and neural work.Taking mushrooms as an example,the parameters of the model are analyzed through experiment.In the end,the results of genetic algorithm and BP neural network are compared.The results show that the absolute error of prediction data is in the scale of 10%;in the scope that the absolute error in the prediction data is in the scope of 20% and 15%.The accuracy of genetic algorithm based on neutral network is higher than the BP neutral network model,especially the absolute error of prediction data is within the scope of 20%.The accuracy of genetic algorithm based on neural network is obviously better than BP neural network model,which represents the favorable generalization capability of the model.

  14. Blending genetics and sociocultural historical inquiry: ethics, culture, and human subjects protection in international cross cultural research.

    Science.gov (United States)

    Sampson, Deborah A; Caldwell, Dennis; Taylor, Andre D; Taylor, Jacquelyn Y

    2013-03-01

    In this paper, we examine the implementation and difficulties when conducting genetics research in a rural, traditional West African culture within the frame of the United States' grounded research ethics. Research challenges are highlighted by Western researchers following U.S. Institutional Review Board (IRB) guidelines and practices in a non-Western country. IRB concepts are culture bound in Western ideals that may not have synchronicity and compatibility with non-Western cultures. Differences in sociocultural norms, traditions, language, and geography were influencing factors that can affect application of IRB principles. Suggestions for change are offered, which will potentially aid researchers considering application of IRB requirements when conducting research in non-Westernized, non-industrialized countries.

  15. Genetic recombination in plant-infecting messenger-sense RNA viruses: overview and research perspectives

    Directory of Open Access Journals (Sweden)

    Jozef Julian Bujarski

    2013-03-01

    Full Text Available RNA recombination is one of the driving forces of genetic variability in (+-strand RNA viruses. Various types of RNA-RNA crossovers were described including crosses between the same or different viral RNAs or between viral and cellular RNAs. Likewise, a variety of molecular mechanisms are known to support RNA recombination, such as replicative events (based on internal or end-to-end replicase switchings along with nonreplicative joining among RNA fragments of viral and/or cellular origin. Such mechanisms as RNA decay or RNA interference are responsible for RNA fragmentation and trans-esterification reactions which are likely accountable for ligation of RNA fragments. Numerous host factors were found to affect the profiles of viral RNA recombinants and significant differences in recombination frequency were observed among various RNA viruses. Comparative analyses of viral sequences allowed for the development of evolutionary models in order to explain adaptive phenotypic changes and co-evolving sites. Many questions remain to be answered by forthcoming RNA recombination research. (i How various factors modulate the ability of viral replicase to switch templates, (ii What is the intracellular location of RNA-RNA template switchings, (iii Mechanisms and factors responsible for non-replicative RNA recombination, (iv Mechanisms of integration of RNA viral sequences with cellular genomic DNA, and (v What is the role of RNA splicing and ribozyme activity. From an evolutionary stand point, it is not known how RNA viruses parasitize new host species via recombination, nor is it obvious what the contribution of RNA recombination is among other RNA modification pathways. We do not understand why the frequency of RNA recombination varies so much among RNA viruses and the status of RNA recombination as a form of sex is not well documented.

  16. Research on Public Traffic Vehicles Dispatch Based on Improved Adaptive Genetic Algorithm

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    <正>Bus dispatching has been studied,and also the bus dispatching model is set up.Then,Genetic Algorithm is adaptively improved in order to avoid premature problem and the slow convergence,and then the keeping optimal strategy is used to the Genetic Algorithm,so formed the Improved Adaptive Genetic Algorithm,namely IAGA. Finally,the IAGA is used to optimizing the bus dispatching model,and the results of the simulation indicate IAGA has the higher efficiency than simple GA and is one effective way to optimizing the bus dispatching.

  17. Genetic influences on the neural and physiological bases of acute threat: A research domain criteria (RDoC) perspective.

    Science.gov (United States)

    Sumner, Jennifer A; Powers, Abigail; Jovanovic, Tanja; Koenen, Karestan C

    2016-01-01

    The NIMH Research Domain Criteria (RDoC) initiative aims to describe key dimensional constructs underlying mental function across multiple units of analysis-from genes to observable behaviors-in order to better understand psychopathology. The acute threat ("fear") construct of the RDoC Negative Valence System has been studied extensively from a translational perspective, and is highly pertinent to numerous psychiatric conditions, including anxiety and trauma-related disorders. We examined genetic contributions to the construct of acute threat at two units of analysis within the RDoC framework: (1) neural circuits and (2) physiology. Specifically, we focused on genetic influences on activation patterns of frontolimbic neural circuitry and on startle, skin conductance, and heart rate responses. Research on the heritability of activation in threat-related frontolimbic neural circuitry is lacking, but physiological indicators of acute threat have been found to be moderately heritable (35-50%). Genetic studies of the neural circuitry and physiology of acute threat have almost exclusively relied on the candidate gene method and, as in the broader psychiatric genetics literature, most findings have failed to replicate. The most robust support has been demonstrated for associations between variation in the serotonin transporter (SLC6A4) and catechol-O-methyltransferase (COMT) genes with threat-related neural activation and physiological responses. However, unbiased genome-wide approaches using very large samples are needed for gene discovery, and these can be accomplished with collaborative consortium-based research efforts, such as those of the Psychiatric Genomics Consortium (PGC) and Enhancing Neuro Imaging Genetics through Meta-Analysis (ENIGMA) Consortium.

  18. If We Would Only Ask: How Henrietta Lacks Continues to Teach Us About Perceptions of Research and Genetic Research Among African Americans Today.

    Science.gov (United States)

    Jones, Bridgette L; Vyhlidal, Carrie A; Bradley-Ewing, Andrea; Sherman, Ashley; Goggin, Kathy

    2017-08-01

    African Americans are under-represented in research, and there are perceptions of unwillingness among African Americans to participate in research. We explored barriers to African American research participation. We conducted a cross-sectional survey to explore knowledge and beliefs regarding medical and genetic research among adults (n = 169) at urban community events. Descriptive data were summarized by frequencies for survey responses. Only 13 % of respondents had ever been approached for research; 93 % of those who had been approached for research had participated. Eighty-six percent of those who had previous research experience indicated willingness to participate again vs. only 30 % among those with no research experience. Seventy-four percent had altruistic views of research; 28 % were concerned about truthfulness of researchers; 52 % feared incidental discoveries. African Americans have favorable views of research; however, few are being engaged in studies. Effective interventions to address identified barriers may improve participation and lead to better health outcomes among African Americans.

  19. Unintended compositional changes in genetically modified (GM) crops: 20 years of research.

    Science.gov (United States)

    Herman, Rod A; Price, William D

    2013-12-04

    The compositional equivalency between genetically modified (GM) crops and nontransgenic comparators has been a fundamental component of human health safety assessment for 20 years. During this time, a large amount of information has been amassed on the compositional changes that accompany both the transgenesis process and traditional breeding methods; additionally, the genetic mechanisms behind these changes have been elucidated. After two decades, scientists are encouraged to objectively assess this body of literature and determine if sufficient scientific uncertainty still exists to continue the general requirement for these studies to support the safety assessment of transgenic crops. It is concluded that suspect unintended compositional effects that could be caused by genetic modification have not materialized on the basis of this substantial literature. Hence, compositional equivalence studies uniquely required for GM crops may no longer be justified on the basis of scientific uncertainty.

  20. Genetics of cardiovascular diseases: lessons learned from a decade of genomics research in Iceland.

    Science.gov (United States)

    Arnar, David O; Andersen, Karl; Thorgeirsson, Gudmundur

    In the past 10 years, large-scale genotyping has led to discoveries of sequence variants that confer the risk of many common and complex diseases. Due to pioneering work done, in large part, at deCODE genetics in Reykjavik, discoveries from Iceland have contributed substantially to key advances in population genetics. In cardiovascular medicine, a number of discoveries have been made, uncovering sequence variants that are associated with disorders such as coronary artery disease, atrial fibrillation, sick sinus syndrome, peripheral vascular disease, aortic aneurysm, and ischemic stroke. Thus, a wealth of genetic data has been accumulated in cardiology and has enhanced our understanding of a number of diseases. In many cases, these findings offer new mechanistic clues into the pathophysiology of complex cardiovascular diseases and may point toward novel therapeutic approaches in drug therapy. The next important step is to begin to transform these findings into practical clinical knowledge with the aim of improving the delivery of cardiovascular health care.

  1. The Application Research about Modified Genetic Algorithm in the Flywheel Charging-Control System

    Directory of Open Access Journals (Sweden)

    Jiaqi Zhong

    2013-05-01

    Full Text Available In the flywheel charging-control system, there exists the flywheel motor’s nonlinearity, variable elements etc, which leads to the problem of parameter tuning of PID controller of its charging-control system’s revolving speed loop. In this study, I will introduce an optimizing way based on modified genetic algorithm for the flywheel charging-control system PID controller, which by means of simulation and performance index quantization to observe its optimizing performance and convergence characteristic, so that we can check the feasibility and effectiveness in the flywheel charging-control system. It turns out that tuning PID controller parameters based on modified genetic algorithm has a better rapidity and stability, which proves the feasibility of the modified genetic algorithm.

  2. Identifying creative research accomplishments: Methodology and results for nanotechnology and human genetics

    NARCIS (Netherlands)

    Heinze, Thomas; Shapira, Philip; Senker, Jacqueline; Kuhlmann, Stefan

    2007-01-01

    Motivated by concerns about the organizational and institutional conditions that foster research creativity in science, we focus on how creative research can be defined, operationalized, and empirically identified. A functional typology of research creativity is proposed encompassing theoretical, me

  3. General Intelligence (g): Overview of a Complex Construct and Its Implications for Genetics Research.

    Science.gov (United States)

    Plucker, Jonathan A; Shelton, Amy L

    2015-01-01

    Current technology has dramatically increased the prevalence of studies to establish the genetic correlates of a wide variety of human characteristics, including not only the physical attributes that determine what we look like and the risk of physiological disease but also the psychological and cognitive characteristics that often define who we are as individuals. Perhaps one of the most deeply personal and often controversial characteristics is the concept of general intelligence, known in the psychological literature as "g." As with the genetic study of any complex trait, the first step in studying the genetics of g is to carefully define the characteristic of interest. For g, this entails establishing what intelligence means and providing a clear operational definition for how it will be measured. In this paper, we provide a brief historical and theoretical overview of the construct of general intelligence, describe its relationship to the contemporary measurement of intelligence, and discuss these concepts in light of the challenges associated with defining g as a characteristic in the study of genetics.

  4. Genetic diversity of lake whitefish in lakes Michigan and Huron: sampling, standardization, and research priorities

    Science.gov (United States)

    Stott, Wendylee; VanDeHey, Justin A.; Sloss, Brian L.

    2010-01-01

    We combined data from two laboratories to increase the spatial extent of a genetic data set for lake whitefish Coregonus clupeaformis from lakes Huron and Michigan and saw that genetic diversity was greatest between lakes, but that there was also structuring within lakes. Low diversity among stocks may be a reflection of relatively recent colonization of the Great Lakes, but other factors such as recent population fluctuation and localized stresses such as lamprey predation or heavy exploitation may also have a homogenizing effect. Our data suggested that there is asymmetrical movement of lake whitefish between Lake Huron and Lake Michigan; more genotypes associated with Lake Michigan were observed in Lake Huron. Adding additional collections to the calibrated set will allow further examination of diversity in other Great Lakes, answer questions regarding movement among lakes, and estimate contributions of stocks to commercial yields. As the picture of genetic diversity and population structure of lake whitefish in the Great Lakes region emerges, we need to develop methods to combine data types to help identify important areas for biodiversity and thus conservation. Adding genetic data to existing models will increase the precision of predictions of the impacts of new stresses and changes in existing pressures on an ecologically and commercially important species.

  5. Handling ethical, legal and social issues in birth cohort studies involving genetic research: responses from studies in six countries

    Science.gov (United States)

    2010-01-01

    Background Research involving minors has been the subject of much ethical debate. The growing number of longitudinal, pediatric studies that involve genetic research present even more complex challenges to ensure appropriate protection of children and families as research participants. Long-term studies with a genetic component involve collection, retention and use of biological samples and personal information over many years. Cohort studies may be established to study specific conditions (e.g. autism, asthma) or may have a broad aim to research a range of factors that influence the health and development of children. Studies are increasingly intended to serve as research platforms by providing access to data and biological samples to researchers over many years. This study examines how six birth cohort studies in North America and Europe that involve genetic research handle key ethical, legal and social (ELS) issues: recruitment, especially parental authority to include a child in research; initial parental consent and subsequent assent and/or consent from the maturing child; withdrawal; confidentiality and sample/data protection; handling sensitive information; and disclosure of results. Methods Semi-structured telephone interviews were carried out in 2008/09 with investigators involved in six birth cohort studies in Canada, Denmark, England, France, the Netherlands and the United States. Interviewees self-identified as being knowledgeable about ELS aspects of the study. Interviews were conducted in English. Results The studies vary in breadth of initial consent, but none adopt a blanket consent for future use of samples/data. Ethics review of new studies is a common requirement. Studies that follow children past early childhood recognise a need to seek assent/consent as the child matures. All studies limit access to identifiable data and advise participants of the right to withdraw. The clearest differences among studies concern handling of sensitive

  6. Handling ethical, legal and social issues in birth cohort studies involving genetic research: responses from studies in six countries

    Directory of Open Access Journals (Sweden)

    LeGrandeur Jane

    2010-03-01

    Full Text Available Abstract Background Research involving minors has been the subject of much ethical debate. The growing number of longitudinal, pediatric studies that involve genetic research present even more complex challenges to ensure appropriate protection of children and families as research participants. Long-term studies with a genetic component involve collection, retention and use of biological samples and personal information over many years. Cohort studies may be established to study specific conditions (e.g. autism, asthma or may have a broad aim to research a range of factors that influence the health and development of children. Studies are increasingly intended to serve as research platforms by providing access to data and biological samples to researchers over many years. This study examines how six birth cohort studies in North America and Europe that involve genetic research handle key ethical, legal and social (ELS issues: recruitment, especially parental authority to include a child in research; initial parental consent and subsequent assent and/or consent from the maturing child; withdrawal; confidentiality and sample/data protection; handling sensitive information; and disclosure of results. Methods Semi-structured telephone interviews were carried out in 2008/09 with investigators involved in six birth cohort studies in Canada, Denmark, England, France, the Netherlands and the United States. Interviewees self-identified as being knowledgeable about ELS aspects of the study. Interviews were conducted in English. Results The studies vary in breadth of initial consent, but none adopt a blanket consent for future use of samples/data. Ethics review of new studies is a common requirement. Studies that follow children past early childhood recognise a need to seek assent/consent as the child matures. All studies limit access to identifiable data and advise participants of the right to withdraw. The clearest differences among studies concern

  7. Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource

    Science.gov (United States)

    Keogh, Michael J.; Wei, Wei; Wilson, Ian; Coxhead, Jon; Ryan, Sarah; Rollinson, Sara; Griffin, Helen; Kurzawa-Akanbi, Marzena; Santibanez-Koref, Mauro; Talbot, Kevin; Turner, Martin R.; McKenzie, Chris-Anne; Troakes, Claire; Attems, Johannes; Smith, Colin; Al Sarraj, Safa; Morris, Chris M.; Ansorge, Olaf; Pickering-Brown, Stuart; Ironside, James W.; Chinnery, Patrick F.

    2017-01-01

    Given the central role of genetic factors in the pathogenesis of common neurodegenerative disorders, it is critical that mechanistic studies in human tissue are interpreted in a genetically enlightened context. To address this, we performed exome sequencing and copy number variant analysis on 1511 frozen human brains with a diagnosis of Alzheimer's disease (AD, n = 289), frontotemporal dementia/amyotrophic lateral sclerosis (FTD/ALS, n = 252), Creutzfeldt-Jakob disease (CJD, n = 239), Parkinson's disease (PD, n = 39), dementia with Lewy bodies (DLB, n = 58), other neurodegenerative, vascular, or neurogenetic disorders (n = 266), and controls with no significant neuropathology (n = 368). Genomic DNA was extracted from brain tissue in all cases before exome sequencing (Illumina Nextera 62 Mb capture) with variants called by FreeBayes; copy number variant (CNV) analysis (Illumina HumanOmniExpress-12 BeadChip); C9orf72 repeat expansion detection; and APOE genotyping. Established or likely pathogenic heterozygous, compound heterozygous, or homozygous variants, together with the C9orf72 hexanucleotide repeat expansions and a copy number gain of APP, were found in 61 brains. In addition to known risk alleles in 349 brains (23.9% of 1461 undergoing exome sequencing), we saw an association between rare variants in GRN and DLB. Rare CNVs were found in genetic data are available, enabling the retrieval of specific frozen brains through the UK Medical Research Council Brain Banks Network. This allows direct access to pathological and control human brain tissue based on an individual's genetic architecture, thus enabling the functional validation of known genetic risk factors and potentially pathogenic alleles identified in future studies. PMID:28003435

  8. Genetic compendium of 1511 human brains available through the UK Medical Research Council Brain Banks Network Resource.

    Science.gov (United States)

    Keogh, Michael J; Wei, Wei; Wilson, Ian; Coxhead, Jon; Ryan, Sarah; Rollinson, Sara; Griffin, Helen; Kurzawa-Akanbi, Marzena; Santibanez-Koref, Mauro; Talbot, Kevin; Turner, Martin R; McKenzie, Chris-Anne; Troakes, Claire; Attems, Johannes; Smith, Colin; Al Sarraj, Safa; Morris, Chris M; Ansorge, Olaf; Pickering-Brown, Stuart; Ironside, James W; Chinnery, Patrick F

    2017-01-01

    Given the central role of genetic factors in the pathogenesis of common neurodegenerative disorders, it is critical that mechanistic studies in human tissue are interpreted in a genetically enlightened context. To address this, we performed exome sequencing and copy number variant analysis on 1511 frozen human brains with a diagnosis of Alzheimer's disease (AD, n = 289), frontotemporal dementia/amyotrophic lateral sclerosis (FTD/ALS, n = 252), Creutzfeldt-Jakob disease (CJD, n = 239), Parkinson's disease (PD, n = 39), dementia with Lewy bodies (DLB, n = 58), other neurodegenerative, vascular, or neurogenetic disorders (n = 266), and controls with no significant neuropathology (n = 368). Genomic DNA was extracted from brain tissue in all cases before exome sequencing (Illumina Nextera 62 Mb capture) with variants called by FreeBayes; copy number variant (CNV) analysis (Illumina HumanOmniExpress-12 BeadChip); C9orf72 repeat expansion detection; and APOE genotyping. Established or likely pathogenic heterozygous, compound heterozygous, or homozygous variants, together with the C9orf72 hexanucleotide repeat expansions and a copy number gain of APP, were found in 61 brains. In addition to known risk alleles in 349 brains (23.9% of 1461 undergoing exome sequencing), we saw an association between rare variants in GRN and DLB. Rare CNVs were found in <1.5% of brains, including copy number gains of PRPH that were overrepresented in AD. Clinical, pathological, and genetic data are available, enabling the retrieval of specific frozen brains through the UK Medical Research Council Brain Banks Network. This allows direct access to pathological and control human brain tissue based on an individual's genetic architecture, thus enabling the functional validation of known genetic risk factors and potentially pathogenic alleles identified in future studies. © 2017 Keogh et al.; Published by Cold Spring Harbor Laboratory Press.

  9. Type 2 diabetes: genetic data sharing to advance complex disease research.

    Science.gov (United States)

    Flannick, Jason; Florez, Jose C

    2016-09-01

    As with other complex diseases, unbiased association studies followed by physiological and experimental characterization have for years formed a paradigm for identifying genes or processes of relevance to type 2 diabetes mellitus (T2D). Recent large-scale common and rare variant genome-wide association studies (GWAS) suggest that substantially larger association studies are needed to identify most T2D loci in the population. To hasten clinical translation of genetic discoveries, new paradigms are also required to aid specialized investigation of nascent hypotheses. We argue for an integrated T2D knowledgebase, designed for a worldwide community to access aggregated large-scale genetic data sets, as one paradigm to catalyse convergence of these efforts.

  10. Application Research of Genetic Algorithm on the Whole-Spacecraft Vibration Isolation System

    Institute of Scientific and Technical Information of China (English)

    ZHANG Jun; HUA Hong-xing; WEI Ling-yun

    2007-01-01

    The objective of the whole-spacecraft vibration isolation (WSVI) system is to reduce the launch-induced dynamic loads and the quality control cost of the satellite and its components, and to increase the launch reliability by insertion of isolators between the satellite and the launch vehicle. A niche hybrid genetic algorithm (NHGA) is proposed to optimize stiffness and damping of the isolators. Through the comparison of the frequency response analysis results, it shows that the optimized WSVI system more effectively reduces spacecraft axial / lateral response due to the broadband structure-born launch environment. At the same time, the case of the whole-spacecraft vibration isolation optimization design demonstrates the efficiency and validity of the genetic algorithm.

  11. Anticipating issues related to increasing preimplantation genetic diagnosis use: a research agenda.

    Science.gov (United States)

    Klitzman, Robert; Appelbaum, Paul S; Chung, Wendy; Sauer, Mark

    2008-01-01

    Increasing use of preimplantation genetic diagnosis (PGD) poses numerous clinical, social, psychological, ethical, legal and policy dilemmas, many of which have received little attention. Patients and providers are now considering and using PGD for a widening array of genetic disorders, and patients may increasingly seek 'designer babies.' In the USA, although governmental oversight policies have been discussed, few specific guidelines exist. Hence, increasingly, patients and providers will face challenging ethical and policy questions of when and for whom to use PGD, and how it should be financed. These issues should be better clarified and addressed through collection of data concerning the current use of PGD in the USA, including factors involved in decision making about PGD use, as well as the education of the various communities that are, and should be, involved in its implementation. Improved understanding of these issues will ultimately enhance the development and implementation of future clinical guidelines and policies.

  12. Genetic and epigenetic factors affecting meiosis induction in eukaryotes revealed in paramecium research.

    Science.gov (United States)

    Prajer, Małgorzata

    2008-01-01

    This review presents studies of the induction of meiosis undertaken on the ciliate Paramecium, a unicellular model eukaryotic organism. Meiosis in Paramecium, preceding the process of fertilization, appears in starved cells after passing a defined number of divisions (cell generations), starting from the last fertilization. Investigations were performed on clones of cells entering autogamy, a self-fertilization process. Genetic as well as epigenetic factors, i.e. endo- and exogenous factors, affecting the induction ofmeiosis and changing the duration of the interautogamous interval (IAI), were analyzed. The results show that: (1) Meiosis induction is controlled genetically by the somatic macronucleus. However, besides the nuclear factors, the cytoplasmic protein immaturin also affects this process (Haga & Hiwatashi 1981); (2) Epigenetic factors, such as non-genetically disturbed cytoskeleton structures and changes in the cell architecture observed in doublet Paramecium cells, exert internal mechanical stress (Ingber 2003), which constitutes the endogenous impulse accelerating meiosis; (3) Mild osmotic stress, acting as an exogenous factor, can initiate the specific MAP kinases signaling pathway resulting in earlier meiosis induction, as in other unicellular eukaryotes (Seet & Pawson 2004).

  13. [Genetic counseling in the Mental Health Research Center of the Russian Academy of Medical Sciences].

    Science.gov (United States)

    Golimbet, V E; Demikova, N S; Alfimova, M V; Urarova, L G; Lezheĭko, T V; Asanov, A Iu

    2004-01-01

    Current concepts on the role of genetic factors in the development of schizophrenia and on the relative risk for this disease and spectrum disorders are reviewed. An analysis of the results of genetic counseling of 120 subjects revealed that, comparing to other mental disorders, patients with schizophrenia or relatives, mostly those having a schizophrenic parent (40%) or spouse (25%), referred more frequently for a consultation. Most of the referrals (70%) had a high educational level. As it was found out during the counseling, up to 20% of the relatives met a diagnosis of psychiatric disorders, mostly personality disorder (9%) and depressive state (7%). Psychological testing with personality inventories revealed a high level of personality abnormalities (schizoid--22%, hyperthymic--16% and obsessive-anxiety--4%) in 43% close relatives of patients seeking medicogenetic advice. The genetic counseling featured by the use of the comprehensive approach, basing on all obtained data (psychiatric, psychological, neurophysiologic etc.), that increases its accuracy and may assist families in taking a reasonable decision in birth planning.

  14. 肥胖症遗传学研究%Genetic research of obesity

    Institute of Scientific and Technical Information of China (English)

    洪洁

    2012-01-01

    肥胖症日益严重威胁公众健康,其是环境和遗传因素相互作用的结果.早期的遗传学研究使用候选基因法和连锁分析寻找肥胖相关基因,收效甚微.然而,全基因组关联研究(GWAS)的出现极大地加快了发现肥胖相关基因的步伐.鉴于GWAS至今只能解释很少一部分肥胖症的遗传度(<10%),故需要利用多种方法发现肥胖基因以促进对肥胖症的理解.%Obesity has been a major public health issue and results from the interaction between environmental and genetic factors. Previous genetic studies have explored obesity-related genes via candidate gene approach and linkage analysis yet a-chieved limited finding. However, the advent of genome-wide association study (GWAS) has dramatically prompted the pace of discovering the genes. Regarding that GWAS may contribute insufficiently ( < 10% ) to the genetic basis of obesity, more approaches are required to unlock the obesity-related genes that would broaden our horizon.

  15. Genetic Associations and Mechanisms in Oncology (GAME-ON): A Network of Consortia for Post-Genome Wide Association (Post-GWA) Research

    Science.gov (United States)

    The Genetic Associations and Mechanisms in Oncology's (GAME-ON) overall goal is to foster an intra-disciplinary and collaborative approach to the translation of promising research leads deriving from the initial wave of cancer GWAS.

  16. Report of the First Community Consultation on the Responsible Collection and Use of Samples for Genetic Research, September 25-26, 2000

    Energy Technology Data Exchange (ETDEWEB)

    Greenberg, Judith H.

    2002-05-22

    The First Community Consultation on the Responsible Collection and Use of Samples for Genetic Research was held in Bethesda, Maryland, on September 25-26, 2000. The consultation was convened by the National Institute of General Medical Sciences (NIGMS) of the National Institutes of Health (NIH). Approximately 120 individuals participated in the consultation, half from a broad range of communities and populations, and half from government. The participants shared their views and concerns about population- and community-based genetic research, expanding the focus of the meeting from the collection and use of blood or other tissue samples for genetic research to broader issues and concerns about the conduct of genetic research in general with populations and communities.

  17. Development of a laser-activated mesoporous silica nanocarrier delivery system for applications in molecular and genetic research

    Science.gov (United States)

    Davidson, Lien M.; Barkalina, Natalia; Yeste, Marc; Jones, Celine; Coward, Kevin

    2016-11-01

    Nanoparticles have revolutionized medical research over the last decade. One notable emerging area of nanomedicine is research developments in the reproductive sciences. Since increasing evidence indicates links between abnormal gene expression and previously unexplained states of infertility, there is a strong impetus to develop tools, such as nanoparticle platforms, to elucidate the pathophysiological mechanisms underlying such states. Mesoporous silica nanoparticles (MSNPs) represent a powerful and safe delivery tool for molecular and genetic investigations. Nevertheless, ongoing progress is restricted by low efficiency and unpredictable control of cargo delivery. Here, we describe for the first time, the development of a laser-activated MSNP system with heat-responsive cargo. Data derived from human embryonic kidney cells (HEK293T) indicate that when driven by a heat-shock promoter, MSNP cargo exhibits a significantly increased expression following infrared laser stimulus to stimulate a heat-shock response, without adverse cytotoxic effects. This delivery platform, with increased efficiency and the ability to impart spatial and temporal control, is highly useful for molecular and genetic investigations. We envision that this straightforward stimuli-responsive system could play a significant role in developing efficient nanodevices for research applications, for example in reproductive medicine.

  18. Experts' opinions on ethical issues of genetic research into Alzheimer's disease: results of a Delphi study in the Netherlands.

    Science.gov (United States)

    van der Vorm, A; van der Laan, A L; Borm, G; Vernooij-Dassen, M; Olde Rikkert, M; van Leeuwen, E; Dekkers, W

    2010-04-01

    Most publications on the ethical aspects of genetic research into Alzheimer's Disease (AD) concentrate on the differences between the opinions of professionals and non-professionals. Differences in rating of morally relevant issues between groups of professionals have not yet been described. A modified Delphi study in two rounds was held to identify differences between groups of experts (i.e. clinicians, representatives of patient organisations, ethicists and persons with a commercial background). The strongest correlation was found between the opinions of ethicists and representatives of patient organisations (0.67) and between clinicians and ethicists (0.62). Moderate correlation (0.55) was found between the opinions of clinicians and representatives of patient organisations. Persons with a commercial background showed a weak correlation with clinicians (0.41), ethicists (0.35) and representatives of patient organisations (0.30). These differences in rating of morally relevant issues between various professional groups are relevant for clinical practice and dementia care, particularly the different rating of prenatal diagnosis found between clinicians and representatives of patient organisations. Interdisciplinary consultations between various professional groups -including at least researchers, clinicians and ethicists -are recommended to guarantee that all considerations will be incorporated into the debate on ethical issues of genetic research into AD.

  19. Interparental conflict, parent psychopathology, hostile parenting, and child antisocial behavior: examining the role of maternal versus paternal influences using a novel genetically sensitive research design.

    Science.gov (United States)

    Harold, Gordon T; Elam, Kit K; Lewis, Gemma; Rice, Frances; Thapar, Anita

    2012-11-01

    Past research has linked interparental conflict, parent psychopathology, hostile parenting, and externalizing behavior problems in childhood. However, few studies have examined these relationships while simultaneously allowing the contribution of common genetic factors underlying associations between family- and parent-level variables on child psychopathology to be controlled. Using the attributes of a genetically sensitive in vitro fertilization research design, the present study examined associations among interparental conflict, parents' antisocial behavior problems, parents' anxiety symptoms, and hostile parenting on children's antisocial behavior problems among genetically related and genetically unrelated mother-child and father-child groupings. Path analyses revealed that for genetically related mothers, interparental conflict and maternal antisocial behavior indirectly influenced child antisocial behavior through mother-to-child hostility. For genetically unrelated mothers, effects were apparent only for maternal antisocial behavior on child antisocial behavior through mother-to-child hostility. For both genetically related and genetically unrelated fathers and children, interparental conflict and paternal antisocial behavior influenced child antisocial behavior through father-to-child hostility. Effects of parental anxiety symptoms on child antisocial behavior were apparent only for genetically related mothers and children. Results are discussed with respect to the relative role of passive genotype-environment correlation as a possible confounding factor underlying family process influences on childhood psychopathology.

  20. [High-priority research directions in genetics, and the breeding of the sugar beet (Beta vulgaris L.) in the 21st century].

    Science.gov (United States)

    Kornienko, A V; Podvigina, O A; Zhuzhzhalova, T P; Fedulova, T P; Bogomolov, M A; Oshevnev, V P; Butorina, A K

    2014-11-01

    High-priority research directions for the genetics and breeding of the sugar beet in the 21st century were developed with consideration of the available scientific achievements of domestic and foreign scholars. These directions unite the classical and molecular approaches to solving the problems of increasing the effectiveness of sugar beet breeding carried out on a genetic basis, and they correspond to the contemporary level of scientific research. Seven such directions are proposed.

  1. Direct results of recent multidisciplinary ethno-genetic research of the Serbs and the Serbian population (in Aleksandrovac district

    Directory of Open Access Journals (Sweden)

    Todorović Ivica

    2014-01-01

    Full Text Available The paper presents immediate results of a multidisciplinary research into ethno genesis, that is, the origin of the Serbs and the Serbian population, based on genetic indicators. The most direct results of the carried out survey are 85 haplotypes with 17 DYS markers/locuses of the respondents from Aleksandrovac district, a representative area as it is in the very centre of Serbian, Kosovo-Resava linguistic and cultural zone. Unlike previous texts that the authors have written on this subject, this paper, for the first time, presents actual results which correlate ethnological facts - starting from older up to latest records on origin - with genetic results obtained owing to the cooperation of the SASA Institute of Ethnography and the Laboratory for DNA analysis of the National forensic centre at the Ministry of Interior, Republic of Serbia. In this way, new findings, which could have been summoned only by parallel use of ethnological and genetic information (and which are given in the paper as clear proofs of necessity and effectiveness of the applied methodological approach, are being obtained and presented. Among other things, the given results of the preliminary survey (compared with the latest relevant surveys by other authors and institutions indicate the dominance of 12a and R1a haplogroups, decisive in the ethnogenesis of the Slavs, which matches common Serbian perception of the Serbs as of a nation of the Slav language and origin.

  2. Research Progress on Fish Genetically Engineered Vaccine%鱼用基因工程疫苗研究进展

    Institute of Scientific and Technical Information of China (English)

    田园园; 叶星

    2012-01-01

    疫苗是目前控制鱼类病害最经济有效的方式.免疫学及生物工程的迅速发展极大地促进了鱼类基因工程疫苗的研究.基因工程疫苗克服了传统疫苗的一些缺陷和不足,显示出巨大的应用前景,已成为国内外水产养殖业的研究热点,近年对鱼用基因工程疫苗的研究已取得较大进展,但鱼用基因工程疫苗在研究和应用过程中也面临着急需解决的若干问题.%At present,vaccination is the most cost-effective way to control diseases in fish. The rapid development in immunology and bio-engineering has greatly promoted the studies on genetically engineered vaccines for fish. It overcomes some defects and deficiencies of the traditional vaccines and shows great application prospect,and has become a research focus on aquaculture at home and abroad. This paper reviewed the present status and achievements gained in genetically engineered vaccine against fish pathogens,and problems encountered in commercialization of fishery genetically engineered vaccines that need to be solved urgently.

  3. The Many Facets of Genetic Literacy: Assessing the Scalability of Multiple Measures for Broad Use in Survey Research.

    Directory of Open Access Journals (Sweden)

    Leah R Abrams

    Full Text Available To determine how three dimensions of genetic literacy (familiarity, skills, and factual knowledge fit the hierarchy of knowledge outlined in E.M. Rogers' Diffusion of Innovations to better conceptualize lay understandings of genomics.A consumer panel representing the US adult population (N = 1016 completed an electronic survey in November 2013. Adjusting for education, we used correlations, principle components analysis, Mokken Scale tests, and linear regressions to assess how scores on the three genetic literacy sub-dimensions fit an ordered scale.The three scores significantly loaded onto one factor, even when adjusting for education. Analyses revealed moderate strength in scaling (0.416, p<0.001 and a difficulty ordering that matched Rogers' hierarchy (knowledge more difficult than skills, followed by familiarity. Skills scores partially mediated the association between familiarity and knowledge with a significant indirect effect (0.241, p<0.001.We established an ordering in genetic literacy sub-dimensions such that familiarity with terminology precedes skills using information, which in turn precedes factual knowledge. This ordering is important to contextualizing previous findings, guiding measurement in future research, and identifying gaps in the understanding of genomics relevant to the demands of differing applications.

  4. Genetics and Genomics of Sjogren's Syndrome: Research provides Clues to Pathogenesis and Novel Therapies

    Science.gov (United States)

    Segal, Barbara M.; Nazmul-Hossain, Abu N. M.; Patel, Ketan; Hughes, Pamela; Moser, Kathy L.; Rhodus, Nelson L.

    2011-01-01

    Purpose While the key inciting events that drive the progression from autoantibodies to clinical disease remain to be clarified, new light has been shed on the factors contributing to disease susceptibility and the role of genetic factors in determining Sjogren's syndrome (SS) disease phenotypes. The purpose of this review is to provide an update on the role of genetic markers in the susceptibility to and pathogenesis of Sjogren's syndrome. This paper also discusses how genomic and proteomic technology can help in the design of specific therapeutics. Key Findings Recent evidence suggests that inflammatory genes associated with interferon pathways, and specific regulatory genes that control the maturation and proliferation of B cells, contribute to the pathogenesis of Sjogren's syndrome. Both gene expression profiling technology and gene association studies have been used to identify these key biologic pathways. Molecularly defined subsets of pSS patients are also being revealed by these studies. Previously identified gene loci which predispose to multiple autoimmune disorders have been confirmed supporting the paradigm of “general” autoimmune disease genes. Association of SS with many additional susceptibility loci are likely to be established through ongoing genome-wide association scans (GWAS). Clues from genetic studies suggest that targeting B cells will prove to be an effective way of reducing the systemic manifestations of pSS and are supported by early clinical trials. Summary Genome-wide technologies are likely to identify new genes and molecular pathways in the pathogenesis of SS that will be useful not only to identify patients at risk for SS, but also to identify subsets of patients at risk for variable levels of disease severity. In the future, these studies could identify novel biomarkers that will lead to significant advances in management by providing the means to tailor therapeutic strategies to individual patients. PMID:21497524

  5. [The new algorithm for disease management of patients with epilepsy based on genetic research].

    Science.gov (United States)

    Oros, M M; Smolanka, V I

    2012-01-01

    We have developed and proposed a new algorithm for treating patients with epilepsy, which takes into account the genetic criteria for the effectiveness of AEDs and provides an opportunity to significantly reduce the time drug-resistance definition, which in turn reduces the time progression epileptohenesis. Therefore, the use of alternative treatments for epilepsy, it is possible before the occurrence of irreversible changes in the patient's central nervous system. Therefore, treatment for this algorithm accelerates the choice of adequate treatment tactics in a particular patient, which promotes safety in society as active and healthy citizens.

  6. Research on central heating system control strategy based on genetic algorithm

    Science.gov (United States)

    Ding, Sa; Yang, Jianhua; Lu, Wei; Duan, Zhipeng

    2017-03-01

    The central heating is a major way of warming in northeast China in winter, however, the traditional heating method is inefficient, intensifying the energy consumption. How to improve the heating efficiency and reduce energy waste attracts more and more attentions in our country. In this paper, the mathematical model of heat transfer station temperature control system was established based on the structure of central heating system. The feedforward-feedback control strategy was used to overcome temperature fluctuations caused by the pressurized heating exchange system. The genetic algorithm was used to optimize the parameters of PID controller and simulation results demonstrated that central heating temperature achieved well control effect and meet stabilization requirements.

  7. Do Organic Consumers Oppose Genetically Modified Food Stronger than Others? Results of a Consumer Research in Germany

    OpenAIRE

    Wirthgen, Antje

    2007-01-01

    The majority of consumers, in particular European consumers oppose genetic modifi-cation of food. Although consumers oppose strongly genetic modification of food, genetically modified food production increases world wide. The co-existence of both, genetically modified food production and food production free of genetic modification cannot be ensured. There is always a risk that non-genetically modified food gets contaminated despite safety regulations. Thus, even organic production, which is ...

  8. [Perspectives of genetic research in eating disorders using the example of anorexia nervosa].

    Science.gov (United States)

    Hinney, Anke; Volckmar, Anna-Lena

    2015-01-01

    Genetic mechanisms are relevant for both body weight regulation and eating disorders (e.g. anorexia nervosa, AN). Although genome-wide association studies (GWAS) have so far identified about 100 chromosomal regions that influence body weight, only a small part of the variance could be explained by molecular genetic factors. For AN GWAS up to now did not reveal genome-wide significant loci. There are first hints for epigenetic mechanisms involved in the described phenotypes. Epigenomics can improve our understanding of the regulation of body weight including hunger (AN) and overnutrition (obesity). Since the prenatal phase is characterized by dramatic epigenetic changes, it can be regarded as vulnerable period for the epigenotype. Adult health and disease depend on prenatal and early postnatal development. Gene expression markers that are imprinted during this phase can be heritable at the cellular level. These markers can be altered by environmental factors. Altered epigenetic profiles had been described for obese individuals. In mice it was shown that an epigenetic modification of an obesity gene locus had been transferred to the next generation. The year to come will show whether the combined analysis of epigenomic and GWAS data will deepen our understanding of the underlying biological mechanisms.

  9. Just around the corner: rhetorics of progress and promise in genetic research.

    Science.gov (United States)

    Evans, Robert; Kotchetkova, Inna; Langer, Susanne

    2009-01-01

    The emerging "diabetes epidemic" threatens to affect 366 million people worldwide by 2030. In the UK, almost 2 million people (about 3.9 percent of the population) are currently diagnosed with diabetes and it is estimated that a further 1 million people have the disease but do not realize it. The prevalence of diabetes, its complications and their effects on the lives of those living with diabetes mean that diabetes research has the potential to bring significant benefits. In this paper, we are concerned with the research involving human embryonic stem (HES) cells that sees diabetes as a potential therapeutic location. Drawing on the idea of the "certainty trough" we examine how the hopes and uncertainties associated with this complex research agenda are understood. We show that those at the research front and those most opposed to the research agenda appear to be the most aware of the uncertainties that need to be resolved. In contrast, funders, typically one-step removed from the research work, see the promise of the research as more real and more likely to be achieved. Significantly, these optimistic funders are supported in their beliefs by the research scientists as constitutive claims are reproduced within the contingent forum. The effect is a collaborative project in which the promise of a technical solution "just around the corner" is sustained whilst concerns about the future difficulties are marginalized.

  10. Progress in research of rat genetic engineering%基因工程大鼠研究进展

    Institute of Scientific and Technical Information of China (English)

    王贵利; 张连峰

    2013-01-01

    相对小鼠而言,大鼠在生理、行为、代谢等方面更接近人类.近年随着基因工程大鼠技术的开发,大鼠开始回归于生命科学实验和医药研究,基因工程大鼠的研究成为实验动物科学的热点.目前适用于大鼠基因工程的技术各有优缺点.本文对大鼠转基因技术,转座子技术,ZFN锌指酶技术,TALENs技术和基于胚胎干细胞的基因打靶技术的研究进展做了比较.%The characteristics of physiology, behavior and metabolism in rats are more close To those of human beings than those of mice. With the development of rat genetic engineering techniques in recent years, the genetically modified rats have been a hot point of laboratory animal science, and rats retake the center stage of life science and pharmaceutical research. The advantages, disadvantages and research progress of the transgene, transposon, ZFN (zinc finger enzymes), TALENs and embryonic stem cell-based gene targeting are compared in this review paper.

  11. North-South benefit sharing arrangements in bioprospecting and genetic research: a critical ethical and legal analysis.

    Science.gov (United States)

    Schüklenk, Udo; Kleinsmidt, Anita

    2006-12-01

    Most pharmaceutical research carried out today is focused on the treatment and management of the lifestyle diseases of the developed world. Diseases that affect mainly poor people are neglected in research advancements in treatment because they cannot generate large financial returns on research and development costs. Benefit sharing arrangements for the use of indigenous resources and genetic research could only marginally address this gap in research and development in diseases that affect the poor. Benefit sharing as a strategy is conceptually problematic, even if one, as we do, agrees that impoverished indigenous communities should not be exploited and that they should be assisted in improving their living conditions. The accepted concept of intellectual property protection envisages clearly defined originators and owners of knowledge, whereas the concept of community membership is fluid and indigenous knowledge is, by its very nature, open, with the originator(s) lost in the mists of time. The delineation of 'community' presents serious conceptual and practical difficulties as few communities form discrete, easily discernable groups, and most have problematic leadership structures. Benefit sharing is no substitute for governments' responsibility to uplift impoverished communities. Benefit sharing arrangements may be fraught with difficulties but considerations of respect and equity demand that prior informed consent and consultation around commercialisation of knowledge take place with the source community and their government.

  12. Computing patient data in the cloud: practical and legal considerations for genetics and genomics research in Europe and internationally.

    Science.gov (United States)

    Molnár-Gábor, Fruzsina; Lueck, Rupert; Yakneen, Sergei; Korbel, Jan O

    2017-06-20

    Biomedical research is becoming increasingly large-scale and international. Cloud computing enables the comprehensive integration of genomic and clinical data, and the global sharing and collaborative processing of these data within a flexibly scalable infrastructure. Clouds offer novel research opportunities in genomics, as they facilitate cohort studies to be carried out at unprecedented scale, and they enable computer processing with superior pace and throughput, allowing researchers to address questions that could not be addressed by studies using limited cohorts. A well-developed example of such research is the Pan-Cancer Analysis of Whole Genomes project, which involves the analysis of petabyte-scale genomic datasets from research centers in different locations or countries and different jurisdictions. Aside from the tremendous opportunities, there are also concerns regarding the utilization of clouds; these concerns pertain to perceived limitations in data security and protection, and the need for due consideration of the rights of patient donors and research participants. Furthermore, the increased outsourcing of information technology impedes the ability of researchers to act within the realm of existing local regulations owing to fundamental differences in the understanding of the right to data protection in various legal systems. In this Opinion article, we address the current opportunities and limitations of cloud computing and highlight the responsible use of federated and hybrid clouds that are set up between public and private partners as an adequate solution for genetics and genomics research in Europe, and under certain conditions between Europe and international partners. This approach could represent a sensible middle ground between fragmented individual solutions and a "one-size-fits-all" approach.

  13. The versatile worm: genetic and genomic resources for Caenorhabditis elegans research.

    Science.gov (United States)

    Antoshechkin, Igor; Sternberg, Paul W

    2007-07-01

    Since its establishment as a model organism, Caenorhabditis elegans has been an invaluable tool for biological research. An immense spectrum of questions can be addressed using this small nematode, making it one of the most versatile and exciting model organisms. Although the many tools and resources developed by the C. elegans community greatly facilitate new discoveries, they can also overwhelm newcomers to the field. This Review aims to familiarize new worm researchers with the main resources, and help them to select the tools that are best suited for their needs. We also hope that it will be helpful in identifying new research opportunities and will promote the development of additional resources.

  14. General overview of genetic research and experimentation on coconut varieties tolerant/resistant to Lethal Yellowing

    Directory of Open Access Journals (Sweden)

    Baudouin Luc

    2009-03-01

    Full Text Available The Lethal Yellowing (LY disease is one of the main threats to coconut industry in many parts of Africa and the Caribbean. Planting resistant varieties has long been recognized as one of the most promising ways of controlling the disease. Considerable efforts have been devoted throughout the world to screening suitable varieties and have often involved international cooperation. It has proven to be a lengthy and difficult task. We present an overview of these efforts with special mention to Ghana, Jamaica and Mexico. Although no variety so far has been proven fully and permanently resistant, treating resistance level as a threshold trait makes it possible to demonstrate significant differences among varieties, which can be exploited effectively to make genetic improvement a component of an integrated control strategy. Based on past experience, we make a few suggestions to increase the diversity of resistance sources and increase the level and the sustainability of resistance to LY in coconut.

  15. Research on the fully fuzzy time-cost trade-off based on genetic algorithms

    Institute of Scientific and Technical Information of China (English)

    2005-01-01

    It is very difficult to estimate exact values of time and cost of an activity in project scheduling process because many uncertain factors, such as weather, productivity level, human factors etc. , dynamically affect them during project implementation process. A GAs-based fully fuzzy optimal time-cost trade-off model is presented based on fuzzy sets and genetic algorithms (GAs). In tihs model all parameters and variables are characteristics by fuzzy numbers. And then GAs is adopted to search for the optimal solution to this model. The method solves the time-cost trade-off problems under an uncertain environment and is proved practicable through a giving example in ship building scheduling.

  16. RESEARCH ON THE MINIMUM ZONE CYLINDRICITY EVALUATION BASED ON GENETIC ALGORITHMS

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    A genetic algorithm (GA)-based method is proposed to solve the nonlinear optimization problem of minimum zone cylindricity evaluation.First, the background of the problem is introduced.Then the mathematical model and the fitness function are derived from the mathematical definition of dimensioning and tolerancing principles.Thirdly with the least squares solution as the initial values, the whole implementation process of the algorithm is realized in which some key techniques, for example, variables representing, population initializing and such basic operations as selection, crossover and mutation, are discussed in detail.Finally, examples are quoted to verify the proposed algorithm.The computation results indicate that the GA-based optimization method performs well on cylindricity evaluation.The outstanding advantages conclude high accuracy, high efficiency and capabilities of solving complicated nonlinear and large space problems.

  17. Synthesizing research and education: Ecology and genetics of independent fern gametophytes and teaching science inquiry and content through simulations

    Science.gov (United States)

    Duffy, Aaron M.

    Two of the main areas of focus in university academics are research and education. The mission statements of Utah State University and the Department of Biology emphasize both areas, as do the requirements of funding agencies. I attempted to integrate research and education by using tools that I developed to support and inform my biological research projects to teach science. Ferns have a life cycle with alternating haploid and diploid life stages, both of which are free-living and potentially long-lived. The haploid gametophytes of some ferns reproduce asexually and may have different environmental requirements than the diploid sporophytes, so it is possible for populations of gametophytes to exist without sporophytes. This dissertation includes a description of surveys for Hymenophyllum wrightii, a fern with independent gametophytes in the Pacific Northwest, and improves our understanding of the range, distribution, and habitat requirements of these plants which were previously assumed to be rare. It also describes an attempt to explore the population genetics of gametophytes of Crepidomanes intricatum, a widespread fern in the Appalachian Mountains for which no sporophytes have ever been found. To help visualize evolutionary processes in independent gametophyte populations I developed the Virtual Population Genetics Simulator (VPGsim) to simulate populations of ferns in a 3-dimensional environment. This dissertation includes a description of VPGsim, a learning module using it to teach undergraduate genetics, and a study demonstrating its effectiveness at improving students' understanding of science content and confidence in their ability to perform science inquiry. That simulation tool led to a collaboration to find other ways to teach science with simulations, and to the development of a Virtual Plant Community simulator (VPCsim) for teaching middle school students about the effects of the environment and human impacts on living organisms. This dissertation

  18. Legumes’ contributions to genetic research, a historical perspective from Mendelism up to massive sequencing

    Directory of Open Access Journals (Sweden)

    Pérez de la Vega, Marcelino

    2016-06-01

    Full Text Available It is well known that Mendel chose peas as the study material for his experiments that are the cornerstone of genetics. Nonetheless, it is less known that he also experimented with other legumes although with reduced success, or that Darwin also experimented with legumes. During the first decade of the twentieth century, peas were the favorite material used to verify Mendel’s results. Although genetics after that time primarily developed using other eukaryotic organisms or microorganisms, legumes pertain to the core material that allowed Vavilov to develop his Law of Homologous Series in Variation. They have also been used as a model to study plant-microbe symbiotic relationships that enable the fixation of atmospheric nitrogen, making them one of the biological models of the genomic age. Over the last five years, several genome sequences of cultivated legume species have been published, with many more to be made public in the upcoming years. Consequently, the amount of theoretical knowledge accumulating in this area and its application in plant breeding are increasing exponentially.Es conocido que Mendel escogió los guisantes como material para realizar los experimentos que son la piedra fundacional de la Genética. Pero es menos conocido que Mendel también experimentó con otras leguminosas con menos éxito, o que Darwin experimentó con leguminosas. Durante la primera década del siglo XX, los guisantes fueron el material predilecto para comprobar los resultados obtenidos por Mendel. Después, la Genética se desarrolló utilizando prioritariamente otros organismos eucariotas o microorganismos. Aun así, las leguminosas forman parte de los materiales en los que Vavilov se basó para desarrollar su Ley de las Series Homólogas en la Variación. Las leguminosas son el modelo para el estudio de las relaciones simbióticas planta-microorganismo que posibilitan la fijación de nitrógeno atmosférico. Esto las ha convertido en uno de los

  19. Consumer attitudes and decision-making with regard to genetically engineered food products: A review of the literature and a presentation of models for future research

    DEFF Research Database (Denmark)

    Bredahl, Lone; Grunert, Klaus G.; Frewer, Lynn

    1998-01-01

    Executive summary 1. Few studies have to date explained consumer attitudes and purchase decisions with regard to genetically engineered food products. However, the increased marketing of genetically engineered food products and the considerable concern that consumers seem to express with regard...... to the technology call for the development of a theoretical basis for research into these issues. 2. The aim of the paper is to present three models which we have developed to explain consumer attitudes, buying behaviour and attitude change with regard to genetically engineered food products. All three models build...... on established consumer behaviour theory and on existing and comparable research in the field. 3. Consumer attitudes toward genetic engineering in food products are explained in an attitude model that builds on Fishbein's multiattribute attitude model. The model deviates from Fishbein's model in a number of ways...

  20. Gene Editing and Genetic Lung Disease. Basic Research Meets Therapeutic Application.

    Science.gov (United States)

    Alapati, Deepthi; Morrisey, Edward E

    2017-03-01

    Although our understanding of the genetics and pathology of congenital lung diseases such as surfactant protein deficiency, cystic fibrosis, and alpha-1 antitrypsin deficiency is extensive, treatment options are lacking. Because the lung is a barrier organ in direct communication with the external environment, targeted delivery of gene corrective technologies to the respiratory system via intratracheal or intranasal routes is an attractive option for therapy. CRISPR/Cas9 gene-editing technology is a promising approach to repairing or inactivating disease-causing mutations. Recent reports have provided proof of concept by using CRISPR/Cas9 to successfully repair or inactivate mutations in animal models of monogenic human diseases. Potential pulmonary applications of CRISPR/Cas9 gene editing include gene correction of monogenic diseases in pre- or postnatal lungs and ex vivo gene editing of patient-specific airway stem cells followed by autologous cell transplant. Strategies to enhance gene-editing efficiency and eliminate off-target effects by targeting pulmonary stem/progenitor cells and the assessment of short-term and long-term effects of gene editing are important considerations as the field advances. If methods continue to advance rapidly, CRISPR/Cas9-mediated gene editing may provide a novel opportunity to correct monogenic diseases of the respiratory system.

  1. Risky individuals and the politics of genetic research into aggressiveness and violence.

    Science.gov (United States)

    Pieri, Elisa; Levitt, Mairi

    2008-11-01

    New genetic technologies promise to generate valuable insights into the aetiology of several psychiatric conditions, as well as a wider range of human and animal behaviours. Advances in the neurosciences and the application of new brain imaging techniques offer a way of integrating DNA analysis with studies that are looking at other biological markers of behaviour. While candidate 'genes for' certain conditions, including schizophrenia and bipolar disorders, are said to be 'un-discovered' at a faster rate than they are discovered, many studies are being conducted on personality traits such as aggressiveness and anti-social traits. The clinical applicability and implications of these studies are often discussed within the scientific community. However, little attention has so far been paid to their possible policy implications in relation to criminality management and to Criminal Law itself. Similarly, the related ethical issues arising in the field of crime control, and the tensions between enhancing security for society and protecting civil liberties, are currently under-explored. This paper investigates these ethical issues by focusing on the views of those professionals - including judges, lawyers, probation officers and social workers - who work with individuals 'deemed at risk' of violent and aggressive behaviours. It also discusses and problematizes mainstream rhetoric and arguments around the notion of 'risky individuals'.

  2. A New Method for Noninvasive Genetic Sampling of Saliva in Ecological Research.

    Science.gov (United States)

    Lobo, Diana; Godinho, Raquel; Álvares, Francisco; López-Bao, José V; Rodríguez, Alejandro

    2015-01-01

    Noninvasive samples for genetic analyses have become essential to address ecological questions. Popular noninvasive samples such as faeces contain degraded DNA which may compromise genotyping success. Saliva is an excellent alternative DNA source but scarcity of suitable collection methods makes its use anecdotal in field ecological studies. We develop a noninvasive method of collection that combines baits and porous materials able to capture saliva. We report its potential in optimal conditions, using confined dogs and collecting saliva early after deposition. DNA concentration in saliva extracts was generally high (mean 14 ng μl(-1)). We correctly identified individuals in 78% of samples conservatively using ten microsatellite loci, and 90% of samples using only eight loci. Consensus genotypes closely matched reference genotypes obtained from hair DNA (99% of identification successes and 91% of failures). Mean genotyping effort needed for identification using ten loci was 2.2 replicates. Genotyping errors occurred at a very low frequency (allelic dropout: 2.3%; false alleles: 1.5%). Individual identification success increased with duration of substrate handling inside dog's mouth and the volume of saliva collected. Low identification success was associated with baits rich in DNA-oxidant polyphenols and DNA concentrations methods, and could advantageously allow detection of socially low-ranked individuals underrepresented in sources of DNA that are involved in marking behaviour (faeces or urine). Once adapted and refined, there is promise for this technique to allow potentially high rates of individual identification in ecological field studies requiring noninvasive sampling of wild vertebrates.

  3. Research on Arrival/Departure Scheduling of Flights on Multirunways Based on Genetic Algorithm

    Directory of Open Access Journals (Sweden)

    Hang Zhou

    2014-01-01

    Full Text Available Aiming at the phenomenon of a large number of flight delays in the terminal area makes a reasonable scheduling for the approach and departure flights, which will minimize flight delay losses and improve runway utilization. This paper considered factors such as operating conditions and safety interval of multi runways; the maximum throughput and minimum flight delay losses as well as robustness were taken as objective functions; the model of optimization scheduling of approach and departure flights was established. Finally, the genetic algorithm was introduced to solve the model. The results showed that, in the program whose advance is not counted as a loss, its runway throughput is improved by 18.4%, the delay losses are reduced by 85.8%, and the robustness is increased by 20% compared with the results of FCFS (first come first served algorithm, while, compared with the program whose advance is counted as a loss, the runway throughput is improved by 15.16%, flight delay losses are decreased by 75.64%, and the robustness is also increased by 20%. The algorithm can improve the efficiency and reduce delay losses effectively and reduce the workload of controllers, thereby improving economic results.

  4. Genetic research into Alzheimer's disease: a European focus group study on ethical issues.

    NARCIS (Netherlands)

    Vorm, A. van der; Olde Rikkert, M.G.M.; Vernooy-Dassen, M.J.F.J.; Dekkers, W.J.M.

    2008-01-01

    BACKGROUND: Nowadays, there is an increasing interest in the heritable aspects of Alzheimer's Disease (AD). The ethical implications of this kind of research are also attracting attention. However, relatively few open-ended qualitative studies have been carried out to study these aspects. OBJECTIVE:

  5. Coconut (Cocos nucifera L. genetic improvement in Vanuatu: overview of research achievements from 1962 to 2002

    Directory of Open Access Journals (Sweden)

    Labouisse Jean-Pierre

    2004-07-01

    Compared to higher-yielding hybrids, the improved VTT populations offer the advantage of being totally tolerant of coconut foliar decay and of being reproducible by farmers themselves. The merits of setting up decentralized seed gardens in the Vanuatu archipelago from improved populations at the research station, or from locally surveyed material, are discussed.

  6. A New Method for Noninvasive Genetic Sampling of Saliva in Ecological Research.

    Directory of Open Access Journals (Sweden)

    Diana Lobo

    Full Text Available Noninvasive samples for genetic analyses have become essential to address ecological questions. Popular noninvasive samples such as faeces contain degraded DNA which may compromise genotyping success. Saliva is an excellent alternative DNA source but scarcity of suitable collection methods makes its use anecdotal in field ecological studies. We develop a noninvasive method of collection that combines baits and porous materials able to capture saliva. We report its potential in optimal conditions, using confined dogs and collecting saliva early after deposition. DNA concentration in saliva extracts was generally high (mean 14 ng μl(-1. We correctly identified individuals in 78% of samples conservatively using ten microsatellite loci, and 90% of samples using only eight loci. Consensus genotypes closely matched reference genotypes obtained from hair DNA (99% of identification successes and 91% of failures. Mean genotyping effort needed for identification using ten loci was 2.2 replicates. Genotyping errors occurred at a very low frequency (allelic dropout: 2.3%; false alleles: 1.5%. Individual identification success increased with duration of substrate handling inside dog's mouth and the volume of saliva collected. Low identification success was associated with baits rich in DNA-oxidant polyphenols and DNA concentrations <1 ng μl(-1. The procedure performed at least as well as other noninvasive methods, and could advantageously allow detection of socially low-ranked individuals underrepresented in sources of DNA that are involved in marking behaviour (faeces or urine. Once adapted and refined, there is promise for this technique to allow potentially high rates of individual identification in ecological field studies requiring noninvasive sampling of wild vertebrates.

  7. A New Method for Noninvasive Genetic Sampling of Saliva in Ecological Research

    Science.gov (United States)

    Lobo, Diana; Godinho, Raquel; Álvares, Francisco; López-Bao, José V.; Rodríguez, Alejandro

    2015-01-01

    Noninvasive samples for genetic analyses have become essential to address ecological questions. Popular noninvasive samples such as faeces contain degraded DNA which may compromise genotyping success. Saliva is an excellent alternative DNA source but scarcity of suitable collection methods makes its use anecdotal in field ecological studies. We develop a noninvasive method of collection that combines baits and porous materials able to capture saliva. We report its potential in optimal conditions, using confined dogs and collecting saliva early after deposition. DNA concentration in saliva extracts was generally high (mean 14 ng μl-1). We correctly identified individuals in 78% of samples conservatively using ten microsatellite loci, and 90% of samples using only eight loci. Consensus genotypes closely matched reference genotypes obtained from hair DNA (99% of identification successes and 91% of failures). Mean genotyping effort needed for identification using ten loci was 2.2 replicates. Genotyping errors occurred at a very low frequency (allelic dropout: 2.3%; false alleles: 1.5%). Individual identification success increased with duration of substrate handling inside dog’s mouth and the volume of saliva collected. Low identification success was associated with baits rich in DNA-oxidant polyphenols and DNA concentrations <1 ng μl-1. The procedure performed at least as well as other noninvasive methods, and could advantageously allow detection of socially low-ranked individuals underrepresented in sources of DNA that are involved in marking behaviour (faeces or urine). Once adapted and refined, there is promise for this technique to allow potentially high rates of individual identification in ecological field studies requiring noninvasive sampling of wild vertebrates. PMID:26496352

  8. New Developments in Sleep Research: Molecular Genetics, Gene Expression, and Systems Neurobiology

    OpenAIRE

    Kilduff, Thomas S.; Lein, Ed S; de la Iglesia, Horacio; Sakurai, Takeshi; Fu, Ying-Hui; Shaw, Paul

    2008-01-01

    Understanding the mechanisms that underlie the control of sleep and wakefulness is a major research area in neuroscience. This mini-symposium review highlights some recent developments at the gene, molecular, cellular, and systems level that have advanced this field. The studies discussed below utilize organisms ranging from flies to humans and focus on the interaction between the sleep homeostatic and circadian systems, the consequences of mutations in genes involved in the circadian clock o...

  9. [Research progress in chemical communication among insect-resistant genetically modified plants, insect pests and natural enemies].

    Science.gov (United States)

    Liu, Qing-Song; Li, Yun-He; Chen, Xiu-Ping; Peng, Yu-Fa

    2014-08-01

    Semiochemicals released by plants or insects play an important role in the communication among plants, phytophagous insects and their natural enemies. They thus form a chemical information network which regulates intra- and inter-specific behaviors and sustains the composition and structure of plant and insect communities. The application of insect-resistant genetically modified (IRGM) crops may affect the chemical communication within and among the tritrophic levels, and thus cause disturbances to the biotic community structure and the stability of the farmland ecosystem. This has raised concerns about the environmental safety of IRGM crops and triggered research worldwide. In the current article we provided a brief summary of the chemical communication among plants, herbivores and natural enemies; analyzed the potential of IRGM crops to affect the chemical communication between plants and arthropods and the related mechanisms; and discussed the current research progress and the future prospects in this field. We hope that this will promote the research in this field by Chinese scientists and increase our understanding of the potential effects of growing of IRGM crops on the arthropod community structure.

  10. 肺癌遗传易感性研究进展%Research progress on genetic susceptibility to lung cancer

    Institute of Scientific and Technical Information of China (English)

    陆丽杰

    2016-01-01

    Lung cancer is currently one of the most common malignant tumors in the world, with an increasing trend of morbidity and mortality.The major causes of lung cancer are inhaled carcinogens, such as tobacco and environmental pollution, but a growing number of researches suggest that the incidence of lung cancer is closely related to genetic factors.In the past few years, great progress has been made in research on single nucleotide polymorphism of susceptibility gene in lung cancer, and the most studies that have aimed to ultimately provide scientific basis for preventing and controlling the lung cancer have focused on screening of lung cancer etiology and developing gene therapy.In this review, the new findings of genetic susceptibility in lung cancer have been summarized.%肺癌是目前全球范围内最常见的恶性肿瘤之一,发病率和病死率均呈上升趋势.烟草、环境污染物质等吸入性致癌物是引发肺癌的主要因素,但越来越多的研究表明肺癌发病与遗传因素关系密切.近年来,对肺癌易感基因单核苷酸多态性的研究取得了较大进展,全球学者致力于筛选肺癌病因、寻找基因治疗方法,最终为预防和控制肺癌提供科学依据.文章针对目前肺癌遗传易感性研究进展作一综述.

  11. Arabidopsis seed secrets unravelled after a decade of genetic and omics-driven research.

    Science.gov (United States)

    North, Helen; Baud, Sébastien; Debeaujon, Isabelle; Dubos, Christian; Dubreucq, Bertrand; Grappin, Philippe; Jullien, Marc; Lepiniec, Loïc; Marion-Poll, Annie; Miquel, Martine; Rajjou, Loïc; Routaboul, Jean-Marc; Caboche, Michel

    2010-03-01

    Seeds play a fundamental role in colonization of the environment by spermatophytes, and seeds harvested from crops are the main food source for human beings. Knowledge of seed biology is therefore important for both fundamental and applied issues. This review on seed biology illustrates the important progress made in the field of Arabidopsis seed research over the last decade. Access to 'omics' tools, including the inventory of genes deduced from sequencing of the Arabidopsis genome, has speeded up the analysis of biological functions operating in seeds. This review covers the following processes: seed and seed coat development, seed reserve accumulation, seed dormancy and seed germination. We present new insights in these various fields and describe ongoing biotechnology approaches to improve seed characteristics in crops.

  12. Advances in Dendrobium molecular research: Applications in genetic variation, identification and breeding.

    Science.gov (United States)

    Teixeira da Silva, Jaime A; Jin, Xiaohua; Dobránszki, Judit; Lu, Jiangjie; Wang, Huizhong; Zotz, Gerhard; Cardoso, Jean Carlos; Zeng, Songjun

    2016-02-01

    Orchids of the genus Dendrobium are of great economic importance in global horticultural trade and in Asian traditional medicine. For both areas, research yielding solid information on taxonomy, phylogeny, and breeding of this genus are essential. Traditional morphological and cytological characterization are used in combination with molecular results in classification and identification. Markers may be useful when used alone but are not always reliable in identification. The number of species studied and identified by molecular markers is small at present. Conventional breeding methods are time-consuming and laborious. In the past two decades, promising advances have been made in taxonomy, phylogeny and breeding of Dendrobium species due to the intensive use of molecular markers. In this review, we focus on the main molecular techniques used in 121 published studies and discuss their importance and possibilities in speeding up the breeding of new cultivars and hybrids. Copyright © 2015 Elsevier Inc. All rights reserved.

  13. Ethics policies and ethics work in cross-national genetic research and data sharing

    DEFF Research Database (Denmark)

    Hoeyer, Klaus; Tupasela, Aaro; Rasmussen, Malene B.

    2016-01-01

    In recent years, cross-national collaboration in medical research has gained increased policy attention. Policies are developed to enhance data sharing, ensure open-access, and harmonize international standards and ethics rules in order to promote access to existing resources and increase...... scientific output. In tandem with this promotion of data sharing, numerous ethics policies are developed to control data flows and protect privacy and confidentiality. Both sets of policy making, however, pay limited attention to the moral decisions and social ties enacted in the everyday routines......? We explore what we call the flows, the nonflows, and the overflows of material and information, and we document the work producing the flows of health data and biomaterial. We call this work “ethics work” and argue that it is crucial for data sharing though it is rarely articulated in ethics policies...

  14. Research in China on the molecular genetics of schizophrenia%中国精神分裂症分子遗传研究

    Institute of Scientific and Technical Information of China (English)

    Donghong CUI; Kaida JIANG

    2012-01-01

    Schizophrenia is a complex disease caused by genetic and environmental factors with a global heritability of more than 80%. By the end of the 1970s, Chinese scientists reported a heritability of schizophrenia of 82.9% in the Chinese Han population. Continuous improvements in research techniques and the recruitment of larger samples have made it possible for Chinese scientists to identify a number of candidate susceptibility genes for schizophrenia. This article reviews the results in genetic research of schizophrenia by Chinese scientists over the last five decades.

  15. The Sangre Por Salud Biobank: Facilitating Genetic Research in an Underrepresented Latino Community.

    Science.gov (United States)

    Shaibi, Gabriel; Singh, Davinder; De Filippis, Eleanna; Hernandez, Valentina; Rosenfeld, Bill; Otu, Essen; Montes de Oca, Gregorio; Levey, Sharon; Radecki Breitkopf, Carmen; Sharp, Richard; Olson, Janet; Cerhan, James; Thibodeau, Stephen; Winkler, Erin; Mandarino, Lawrence

    2016-01-01

    The Sangre Por Salud (Blood for Health; SPS) Biobank was created for the purpose of expanding precision medicine research to include underrepresented Latino patients. It is the result of a unique collaboration between Mayo Clinic and Mountain Park Health Center, a federally qualified community health center in Phoenix, Arizona. This report describes the rationale, development, implementation, and characteristics of the SPS Biobank. Latino adults (ages 18-85 years) who were active patients within Mountain Park Health Center's internal medicine practice in Phoenix, Ariz., and had no history of diabetes were eligible. Participants provided a personal and family history of chronic disease, completed a sociodemographic, psychosocial, and behavioral questionnaire, underwent a comprehensive cardiometabolic risk assessment (anthropometrics, blood pressure and labs), and provided blood samples for banking. Laboratory results of cardiometabolic testing were returned to the participants and their providers through the electronic health record. During the first 2 years of recruitment into the SPS Biobank, 2,335 patients were approached and 1,432 (61.3%) consented to participate; 1,354 (94.5%) ultimately completed all requisite questionnaires and medical evaluations. The cohort is primarily Spanish-speaking (72.9%), female (73.3%), with a mean age of 41.3 ± 12.5 years. Most participants were born outside of the US (77.9%) and do not have health insurance (77.5%). The prevalence of overweight (35.5%) and obesity (45.0%) was high, as was previously unidentified prediabetes (55.9%), type 2 diabetes (7.4%), prehypertension (46.8%), and hypertension (16.2%). The majority of participants rated their health as good to excellent (72.1%) and, as a whole, described their overall quality of life as high (7.9/10). Collaborative efforts such as the SPS Biobank are critical for ensuring that underrepresented minority populations are included in precision medicine initiatives and biomedical

  16. Consumer attitudes and decision-making with regard to genetically engineered food products: A review of the literature and a presentation of models for future research

    DEFF Research Database (Denmark)

    Bredahl, Lone; Grunert, Klaus G.; Frewer, Lynn

    by standardis regression coefficients obtained by regressing attitudes, measured by global measures, on beliefs. 4. Consumer buying behaviour with regard to specific genetically engineered food products is explained in a behavioural intention model which uses Ajzen's Theory of Planned Behavior as its point...... to the technology call for the development of a theoretical basis for research into these issues. 2. The aim of the paper is to present three models which we have developed to explain consumer attitudes, buying behaviour and attitude change with regard to genetically engineered food products. All three models build......Executive summary 1. Few studies have to date explained consumer attitudes and purchase decisions with regard to genetically engineered food products. However, the increased marketing of genetically engineered food products and the considerable concern that consumers seem to express with regard...

  17. Consumer attitudes and decision-making with regard to genetically engineered food products: A review of the literature and a presentation of models for future research

    DEFF Research Database (Denmark)

    Bredahl, Lone; Grunert, Klaus G.; Frewer, Lynn

    1998-01-01

    by standardis regression coefficients obtained by regressing attitudes, measured by global measures, on beliefs. 4. Consumer buying behaviour with regard to specific genetically engineered food products is explained in a behavioural intention model which uses Ajzen's Theory of Planned Behavior as its point...... to the technology call for the development of a theoretical basis for research into these issues. 2. The aim of the paper is to present three models which we have developed to explain consumer attitudes, buying behaviour and attitude change with regard to genetically engineered food products. All three models build......Executive summary 1. Few studies have to date explained consumer attitudes and purchase decisions with regard to genetically engineered food products. However, the increased marketing of genetically engineered food products and the considerable concern that consumers seem to express with regard...

  18. Development of Genetics Engineering Research of Taiwan, Japan and Korea via Patent Bibliometric Approach

    Directory of Open Access Journals (Sweden)

    Szu-chia Lo

    2005-03-01

    Full Text Available In this study investigating international students’ perceptions of U.S. academic libraries, a qualitative method, photo-elicitation, is for the first time used to study how previous library experiences influence international students’ current perceptions of U.S. academic libraries. This study focuses on four dimensions of library service including access to information, affect of service, library as place, and personal control; these four dimensions are adapted from the LibQUAL+™, a web-based survey tool used among academic libraries for measuring users’ perceptions of library services.Five first-year graduate students from Taiwan were interviewed about how they perceived the library services of Center for Instructional Materials and Computing (CIMC, an academic library serving the students and faculty of School of Education at the University of Wisconsin, Madison. The findings of this study confirm the findings of previous studies both on international students’ in U.S. academic libraries and on photo-elicitation studies, and add empirical examples and insights for the claims in the limited body of research on international students in U.S. academic libraries. [Article Content in Chinese

  19. Genetics of food intake self-regulation in childhood: literature review and research opportunities.

    Science.gov (United States)

    Faith, Myles S; Carnell, Susan; Kral, Tanja V E

    2013-01-01

    Pediatric obesity results from a daily energy imbalance between intake and expenditure, an imbalance potentially as slight as ~30-50 kcal/day (e.g., a few extra sips of cola or bites of a cookie). That an 'energy gap' so small may be so powerful suggests the importance of understanding mechanisms of food intake self-regulation (FISR). This review focuses on 4 behavioral indices of FISR in childhood: (1) eating in the absence of hunger; (2) eating rate; (3) caloric compensation and satiety responsiveness, and (4) food responsiveness. Evidence from pediatric samples around the world indicates that these traits are associated with body mass index, are heritable, and are linked to polymorphisms in the FTO gene. We review these data, also discussing their relevance to practical issues of parental feeding styles, portion sizes, and health literacy and numeracy. Research gaps and opportunities for future investigation are discussed. Multidisciplinary approaches and study designs that can address gene-environment interactions are needed to advance the science of FISR and stimulate new avenues for childhood obesity prevention. © 2013 S. Karger AG, Basel.

  20. Genetic improvement of sugar cane for bioenergy: the Brazilian experience in network research with RIDESA

    Directory of Open Access Journals (Sweden)

    Luiz Alexandre Peternelli

    2012-01-01

    Full Text Available In this paper, it is presented RIDESA’s model for sugar cane breeding to ethanol, and its scientific, technological and human resources training contributions. RIDESA is an inter-university network for the development of sugar cane industry in Brazil, and was formed by a technical cooperation agreement between ten public universities. The model of network management is presented in this study, which involves, among other things, the public-private partnership (Universities-Mills for the development of cultivars. RIDESA has produced 59 cultivars since 1990 and is now responsible for 59% of the total area cultivated with this plant in Brazil. In the last five years, 286 agronomists were trained in breeding programs at universities that comprise RIDESA. In this same period, the network formed 35 professors, 24 doctors and 7 post-docs in researches with this crop. It is also presented a conceptual approach on methods of sugar cane breeding involving families and genome-wide selection.

  1. Isolation and Characterization of Mobile Genetic Elements from Microbial Assemblages Obtained from the Field Research Center Site

    Energy Technology Data Exchange (ETDEWEB)

    Patricia Sobecky; Cassie Hodges; Kerri Lafferty; Mike Humphreys; Melanie Raimondo; Kristin Tuttle; Tamar Barkay

    2004-03-17

    Considerable knowledge has been gained from the intensive study of a relatively limited group of bacterial plasmids. Recent efforts have begun to focus on the characterization of, at the molecular level, plasmid populations and associated mobile genetic elements (e.g., transposons, integrons) occurring in a wider range of aquatic and terrestrial habitats. Surprisingly, however, little information is available regarding the incidence and distribution of mobile genetic elements extant in contaminated subsurface environments. Such studies will provide greater knowledge on the ecology of plasmids and their contributions to the genetic plasticity (and adaptation) of naturally occurring subsurface microbial communities. We requested soil cores from the DOE NABIR Field Research Center (FRC) located on the Oak Ridge Reservation. The cores, received in February 2003, were sampled from four areas on the Oak Ridge Site: Area 1, Area 2, Area 3 (representing contaminated subsurface locales) and the background reference sites. The average core length (24 in) was subdivided into three profiles and soil pH and moisture content were determined. Uranium concentration was also determined in bulk samples. Replicate aliquots were fixed for total cell counts and for bacterial isolation. Four different isolation media were used to culture aerobic and facultative microbes from these four study areas. Colony forming units ranged from a minimum of 100 per gram soil to a maximum of 10,000 irrespective of media composition used. The vast majority of cultured subsurface isolates were gram-positive isolates and plasmid characterization was conducted per methods routinely used in the Sobecky laboratory. The percentage of plasmid incidence ranged from 10% to 60% of all isolates tested. This frequency appears to be somewhat higher than the incidence of plasmids we have observed in other habitats and we are increasing the number of isolates screened to confirm this observation. We are also

  2. SPG4基因的遗传学研究%Advances of genetic research on the SPG4 gene

    Institute of Scientific and Technical Information of China (English)

    杨华荣; 漆涌; 宋治; 邓昊

    2010-01-01

    The hereditary spastic paraplegia (HSP), also known as Strümpell-Lorrain familial spasmodic paraplegia, is a highlighted clinical and genetic heterogeneity disorder with the prevalence of (2-9.6)/100,000. This disorder is characterized by progressive, usually severe spasticity and pyramidal weakness, predominantly in the lower limbs. Inheritance of this disease has been reported to be autosomal dominant (AD), autosomal recessive (AR), or X-linked recessive (XR), with the AD forms of HSP (ADHSP) being the most common type. At least 40 HSP gene loci have been localized and 19 genes have been identified. Forty percent of HSP cases are caused by mutations in the spastin (spastic paraplegia-4, SPG4) gene. Genetic diagnosis, the gold standard for diagnosis of the disease, may contribute to early diagnosis, presymptomatic diagnosis and prenatal diagnosis. The study of animal models plays an important role in revealing the molecular pathological mechanism of HSP. The known genetic research advances of the SPG4 gene are reviewed in this article.%遗传性痉挛性截瘫(hereditary spastic paraplegia,HSP),又称为家族性Strümpell-Lorrain病,是一种具有临床及遗传高度异质性的神经系统遗传病,患病率为2/10万~9.6/10万,表现为缓慢进展的双下肢无力及痉挛性截瘫.根据遗传方式不同HSP可分为常染色体显性遗传、常染色体隐性遗传和X-连锁隐性遗传,以常染色体显性遗传最常见.目前已经发现40个HSP基因位点,已克隆19个疾病基因.其中spastin基因突变所致的遗传性痉挛性截瘫4型(spastic paraplegia-4,SPG4)约占常染色体显性遗传的HSP的40%.基因检测是诊断该病的金标准,有助于早期诊断、症状前诊断及产前诊断.动物模型的研究对揭示HSP的分子病理机制有重要作用,本文就SPG4基因的遗传学研究作一概述.

  3. Coconut (Cocos nucifera L. genetic improvement in Vanuatu: Overview of research achievements from 1962 to 2002.

    Directory of Open Access Journals (Sweden)

    Labouisse Jean-Pierre

    2005-03-01

    Full Text Available From 1962 to 2002, at the Saraoutou research station on the island of Santo in Vanuatu, a hybrid creation programme was implemented to improve the productive potential of coconut cultivars. The first stage was to create a collection by introducing around thirty exotic varieties. All those varieties and most of the 60 hybrids created proved to be susceptible to coconut foliar decay, a viral disease transmitted by Myndus taffini and endemic in Vanuatu. Only the Vanuatu Tall populations and two hybrids (Vanuatu Red Dwarf × Vanuatu Tall and Vanuatu Tall × Rennell Island Tall displayed tolerance enabling their distribution to farmers. The author indicates the origin of the parents and the production characteristics of these two hybrids. The Vanuatu Red Dwarf × Vanuatu Tall hybrid expresses good hybrid vigour with a production potential ranging from 2.5 to 3.4 tons per hectare per year. However, it does have several defects: slow germination and a highly irregular final germinated nut rate, susceptibility to cyclones when young, premature nut fall sometimes seen on young palms, and a mediocre copra content (between 135 and 160 g. The Vanuatu Tall × Rennell Island Tall hybrid stands out through its early start to bearing (4 years, its vigour and its good adaptation to cyclones. The copra content of its nuts (between 210 and 245 g is better than that of the Vanuatu Tall, making copra preparation easier. Its production ranges from 2.5 to 3 tons per hectare per year, which is around 30% better than the improved Vanuatu Tall (Elite Vanuatu Tall. However, dissemination of this hybrid, which can only be produced in centralized seed gardens, is limited by the cost of production and of transport throughout the archipelago. Only large-scale Elite Vanuatu Tall production in decentralized seed gardens would enable a significant improvement in coconut productivity in Vanuatu.

  4. Heterogeneity in genetic and nongenetic variation and energy sink relationships for residual feed intake across research stations and countries.

    Science.gov (United States)

    Tempelman, R J; Spurlock, D M; Coffey, M; Veerkamp, R F; Armentano, L E; Weigel, K A; de Haas, Y; Staples, C R; Connor, E E; Lu, Y; VandeHaar, M J

    2015-03-01

    Our long-term objective is to develop breeding strategies for improving feed efficiency in dairy cattle. In this study, phenotypic data were pooled across multiple research stations to facilitate investigation of the genetic and nongenetic components of feed efficiency in Holstein cattle. Specifically, the heritability of residual feed intake (RFI) was estimated and heterogeneous relationships between RFI and traits relating to energy utilization were characterized across research stations. Milk, fat, protein, and lactose production converted to megacalories (milk energy; MilkE), dry matter intakes (DMI), and body weights (BW) were collected on 6,824 lactations from 4,893 Holstein cows from research stations in Scotland, the Netherlands, and the United States. Weekly DMI, recorded between 50 to 200 d in milk, was fitted as a linear function of MilkE, BW0.75, and change in BW (ΔBW), along with parity, a fifth-order polynomial on days in milk (DIM), and the interaction between this polynomial and parity in a first-stage model. The residuals from this analysis were considered to be a phenotypic measure of RFI. Estimated partial regression coefficients of DMI on MilkE and on BW0.75 ranged from 0.29 to 0.47 kg/Mcal for MilkE across research stations, whereas estimated partial regression coefficients on BW0.75 ranged from 0.06 to 0.16 kg/kg0.75. Estimated partial regression coefficients on ΔBW ranged from 0.06 to 0.39 across stations. Heritabilities for country-specific RFI were based on fitting second-stage random regression models and ranged from 0.06 to 0.24 depending on DIM. The overall heritability estimate across all research stations and all DIM was 0.15±0.02, whereas an alternative analysis based on combining the first- and second-stage model as 1 model led to an overall heritability estimate of 0.18±0.02. Hence future genomic selection programs on feed efficiency appear to be promising; nevertheless, care should be taken to allow for potentially

  5. Exploration and implementation for the construction of the quaternary teaching system of medical genetics including teaching, practice, research and clinical application.

    Science.gov (United States)

    Fengjuan, Zhou; Wenmei, Xie; Qiang, Wang; Xiaorong, Zhao

    2015-09-01

    Medical genetics, the connection between basic and clinical medicine, is a subject with strong applicability and plays important role in modern medical education system. Based on years of teaching experience and during the construction of state-level top quality course, our teaching team has established the quaternary teaching system of medical genetics which includes teaching, practice, research and clinical application. The four elements of the system interpenetrate, complement and reinforce each other. Specifically, classroom teaching is the basics which is further complemented by social practice, improved by research and promoted by clinical application. The quaternary teaching system provides a feasible way to integrate theoretical and clinical courses. After years of implementation, the teaching system has got great effects on the obvious improvement of research ability, social reputation and clinical service capacities of the research team.

  6. The ethics of contacting family members of a subject in a genetic research study to return results for an autosomal dominant syndrome.

    Science.gov (United States)

    Taylor, Holly A; Wilfond, Benjamin S

    2013-01-01

    This case explores the ethical landscape around recontacting a subject's relatives to return genetic research results when the informed consent form signed by the original cohort of subjects is silent on whether investigators may share new information with the research subject's family. As a result of rapid advances in genetic technology, methods to identify genetic markers can mature during the life course of a study. In this case, the investigators identified the genetic mutation responsible for the disorder after a number of their original subjects had died. The researchers now have the ability to inform relatives of the subject about their risk of developing the same disease. Mark Rothstein, JD, from the University of Louisville School of Medicine, provides an overview of the medical/scientific, legal, and ethical issues underlying this case. Lauren Milner, PhD, and colleagues at Stanford University explore how the relationship between researcher and subject affect this debate. Seema Shah, JD, and colleagues at the National Institutes of Health and University of California, Los Angeles (UCLA) discuss whether and how requirements of the duty to warn are applicable in this case.

  7. Improving Trend of Adhering to Ethical Measures in Iranian Research in Human Genetics: A Survey from 2005 to 2009; and the Road Ahead.

    Directory of Open Access Journals (Sweden)

    Seyed Hasan Saadat

    2013-10-01

    Full Text Available The overwhelming rate of progress in biotechnological research especially in human genetics, as well as the high levels of power these researches provide us to intervene in human lives, brings serious concerns on the ethical problems that may rise from these research endeavors. To address this critical issue in Iran, we conducted a study issuing publishing authors of studies in human genetics from Iran, between years 2005 to 2011.We contacted 116 corresponding authors of articles issuing genetics research on human subjects, asking them that whether they have gotten either informed consent from their study subjects or ethical approval from their institutional ethics committee.Only 13% of the authors presented both documents; 52% had not gotten any of the documents; 19% of authors felt no need for getting the mentioned documents; 13% declared that they only gotten oral consent and 3% of authors did not remember whether they have gotten any documentation or not.The trend for informed consent taking was improving over time, from 5% in year 2006 to 24% in 2009. The result was not satisfactory but showed good trend towards improvement, recommending more serious follow up concerning ethical aspects of articles published in human genetics.

  8. Dynamics of genetic variation at gliadin-coding loci in bread wheat cultivars developed in small grains research center (Kragujevac during last 35 years

    Directory of Open Access Journals (Sweden)

    Novosljska-Dragovič Aleksandra

    2005-01-01

    Full Text Available Multiple alleles of gliadin-coding loci are well-known genetic markers of common wheat genotypes. Based on analysis of gliadin patterns in common wheat cultivars developed at the Small Grains Research Center in Kragujevac dynamics of genetic variability at gliadin-coding loci has been surveyed for the period of 35 years. It was shown that long-term breeding of the wheat cultivars involved gradual replacement of ancient alleles for those widely spread in some regions in the world, which belong to well-known cultivars-donor of some important traits. Developing cultivars whose pedigree involved much new foreign genetic material has increased genetic diversity as well as has changed frequency of alleles of gliadin-coding loci. So we can conclude that the genetic profile of modern Serbian cultivars has changed considerably. Genetic formula of gliadin was made for each the cultivar studied. The most frequent alleles of gliadin-coding loci among modern cultivars should be of great interest of breeders because these alleles are probably linked with genes that confer advantage to their carriers at present.

  9. Neuregulin 1: a prime candidate for research into gene-environment interactions in schizophrenia? Insights from genetic rodent models

    Directory of Open Access Journals (Sweden)

    Tim eKarl

    2013-08-01

    Full Text Available Schizophrenia is a multi-factorial disease characterized by a high heritability and environmental risk factors. In recent years, an increasing number of researchers worldwide have started investigating the ‘two-hit hypothesis’ of schizophrenia predicting that genetic and environmental risk factors (GxE interactively cause the development of the disorder. This work is starting to produce valuable new animal models and reveal novel insights into the pathophysiology of schizophrenia. This mini review will focus on recent advancements in the field made by challenging mutant and transgenic rodent models for the schizophrenia candidate gene neuregulin 1 (NRG1 with particular environmental factors. It will outline results obtained from mouse and rat models for various Nrg1 isoforms/isoform types (e.g. transmembrane domain Nrg1, Type II Nrg1, which have been exposed to different forms of stress (acute versus chronic, restraint versus social and housing conditions (standard laboratory versus minimally enriched housing. These studies suggest Nrg1 as a prime candidate for GxE interactions in schizophrenia rodent models and that the use of rodent models will enable a better understanding of GxE interactions and the underlying mechanisms.

  10. Ethical implications of including children in a large biobank for genetic-epidemiologic research: a qualitative study of public opinion.

    Science.gov (United States)

    Kaufman, David; Geller, Gail; Leroy, Lisa; Murphy, Juli; Scott, Joan; Hudson, Kathy

    2008-02-15

    The National Institutes of Health and other federal agencies are considering initiating a cohort study of 500,000 people, including 120,000 children, to measure genetic and environmental influences on common diseases. A community engagement pilot study was conducted to identify public attitudes and concerns about the proposed cohort study, including the ethics of involving children. The pilot included 15 focus groups where the inclusion of children in the proposed cohort study was discussed. Focus groups, conducted in six cities, included 141 adults of different ages, incomes, genders, ethnicities, and races. Many of the concerns expressed by participants mirrored those addressed in pediatric research guidelines. These concerns included minimizing children's fear, pain, and burdens; whether to include young children; and how to obtain children's assent. There was little agreement about which children can assent. Some voiced concern about children's privacy, but most expected that parents would have access to children's study results. Some believed children would not benefit from participating, while others identified personal and societal benefits that might accrue. A few people believed that children's participation would not advance the study's goals. To successfully include children, proposed cohort study would need to address children's changing capabilities and rights as they grow and reach the age of consent.

  11. Research Advances in Genetics and Breeding in Salmonids%主要养殖鲑科鱼类遗传育种的研究进展

    Institute of Scientific and Technical Information of China (English)

    户国; 谷伟; 白庆利; 王炳谦

    2012-01-01

    冷水性鲑科鱼类肉质鲜美,高蛋白、高不饱和脂肪酸、营养丰富、无肌间刺、易加工,是世界性养殖鱼类,其中大西洋鲑、虹鳟和红点鲑属鱼类等主要养殖鲑科鱼类,一直是水产遗传育种领域的重要研究对象。本文简要叙述了鲑科鱼类遗传育种研究的历史和现状,主要介绍了经济性状遗传参数估计、选择育种、分子遗传与标记辅助育种等方面的研究进展,提出了我国鲑科鱼类遗传育种工作重点研究的方向。%Cold water Salmonids as a global culture fish are characterized by high quality flesh,high protein and unsaturated fat acids contents,no intermuscular bones,and easy to be processed,and particularly,Atlantic salmon(Salmo salar),rainbow trout(Oncorhynchus mykiss) and charrs are the important object of aquatic breeding and genetics research.The past and current research status of the genetics and breeding of salmonid species are briefly described,and the advances in genetic parameters estimation of economic traits,selective breeding,molecular genetics and marker assisted breeding in salmonid species are introduced in this paper.Some suggestions are made for future directions and priorities of genetics and breeding of salmonid species to provide new ideas for the study and researchers in the field of aquatic breeding and genetics.

  12. Genetics of Parkinson's disease

    National Research Council Canada - National Science Library

    Klein, Christine; Westenberger, Ana

    2012-01-01

    Fifteen years of genetic research in Parkinson's disease (PD) have led to the identification of several monogenic forms of the disorder and of numerous genetic risk factors increasing the risk to develop PD...

  13. The "Plant Drosophila": E.B. Babcock, the genus "Crepis," and the evolution of a genetics research program at Berkeley, 1915-1947.

    Science.gov (United States)

    Smocovitis, Vassiliki Betty

    2009-01-01

    This paper explores the research and administrative efforts of Ernest Brown Babcock, head of the Division of Genetics in the College of Agriculture at the University of California, Berkeley, the first academic unit so named in the United States. It explores the rationale for his choice of "model organism," the development--and transformation--of his ambitious genetics research program centering on the weedy plant genus named "Crepis" (commonly known as the hawkbeard), along with examining in detail the historical development of the understanding of genetic mechanisms of evolutionary change in plants leading to the period of the evolutionary synthesis. Chosen initially as the plant counterpart of Thomas Hunt Morgan's "Drosophila melanogaster," the genus "Crepis" instead came to serve as the counterpart of Theodosius Dobzhansky's "Drosophila pseudoobscura," leading the way in plant evolutionary genetics, and eventually providing the first comprehensive systematic treatise of any genus that was part of the movement known as biosystematics, or the "new" systematics. The paper also suggests a historical rethinking of the application of the terms model organism, research program, and experimental system in the history of biology.

  14. Neurotoxicity of cGMP in the vertebrate retina: from the initial research on rd mutant mice to zebrafish genetic approaches.

    Science.gov (United States)

    Iribarne, Maria; Masai, Ichiro

    2017-09-01

    Zebrafish are an excellent animal model for research on vertebrate development and human diseases. Sophisticated genetic tools including large-scale mutagenesis methodology make zebrafish useful for studying neuronal degenerative diseases. Here, we review zebrafish models of inherited ophthalmic diseases, focusing on cGMP metabolism in photoreceptors. cGMP is the second messenger of phototransduction, and abnormal cGMP levels are associated with photoreceptor death. cGMP concentration represents a balance between cGMP phosphodiesterase 6 (PDE6) and guanylate cyclase (GC) activities in photoreceptors. Various zebrafish cGMP metabolism mutants were used to clarify molecular mechanisms by which dysfunctions in this pathway trigger photoreceptor degeneration. Here, we review the history of research on the retinal degeneration (rd) mutant mouse, which carries a genetic mutation of PDE6b, and we also highlight recent research in photoreceptor degeneration using zebrafish models. Several recent discoveries that provide insight into cGMP toxicity in photoreceptors are discussed.

  15. Genetic Research Methodology Meets Early Childhood Science Education Research: A Cultural-Historical Study of Child’s Scientific Thinking Development

    Directory of Open Access Journals (Sweden)

    Fragkiadaki G.,

    2016-12-01

    Full Text Available The study reported in this paper aims to structure a cultural-historical understanding on how early childhood children experience science and how they develop scientific thinking as they interact with the social, cultural and material world. Moving beyond the cognitive dimensions of learning by interrelating different aspects of the process of children’s scientific thinking development constitutes a research prior- ity for the study. From a wide range of collected data, in the present article one qualitative empirical case study is presented. The detailed single example that is analyzed refers to a kindergarten female student, aged 5.2 years old, from an urban area of Greece. A developmental research methodology as specified from the requirements of cultural-historical theory framework is used. Following four of the main principles of the experimental genetic method, this study creates a fecund ground for a cultural-historical exploration and interpretation of the very processes of the child’s development. The collection of the data was achieved through expanded, open-type conversations conducted at three concrete phases between the case study child, two of her peers and the educator. Drawing upon the system of theoretical concepts of cultural- historical theory the analysis is mainly based on the concept of perezhivanie as analytical tool as well as the concept of the developmental trajectories. The concept of the conceptualization of a precursor model as a theoretical tool that derives from the field of Science Education is also used. The analysis gives insights into how a certain social situation between children and educators in kindergarten settings becomes the unique social situation of a child’s development. Using as a base the dialectic perspective that Vygotsky posed in the analysis of human psyche, the study in this paper offers a creative insight in order to elaborate on a broad and dynamic understanding of the child

  16. Interest and attitudes of patients, cancer physicians, medical students and cancer researchers towards a spectrum of genetic tests relevant to breast cancer patients.

    Science.gov (United States)

    Ngoi, Natalie; Lee, Soo-Chin; Hartman, Mikael; Khin, Lay-Wai; Wong, Andrea

    2013-02-01

    The perspectives of patients and healthcare professionals towards breast cancer genetic tests that are becoming increasingly available is unexplored in Asians. We surveyed the interest and attitudes of 200 breast cancer patients, 67 cancer physicians, 485 medical students and cancer researchers towards three genetic tests, BRCA1/2 mutation, CYP2D6 genotype and Oncotype DX testing, using hypothetical scenarios. Approximately 60% of patients expressed initial interest in each genetic test, although the majority reversed their decisions once test limitations were conveyed, with <15% maintaining interest in each test. Cancer physicians were most likely to recommend BRCA1/2 mutation testing (73%) and least likely to recommend CYP2D6 genotyping (12%), while patients were more likely to choose Oncotype DX testing (28%) over CYP2D6 (21%) and BRCA1/2 testing (15%). Cost concerns, low educational level and lack of prior awareness of genetic testing were the main barriers against breast cancer genetic testing among Asian patients.

  17. 基于改进遗传算法的机器人主动嗅觉研究%Research on Robots Active Olfaction Based on Improved Genetic Algorithm

    Institute of Scientific and Technical Information of China (English)

    石志标; 孙江波

    2011-01-01

    在基于遗传算法机器入主动嗅觉研究中,为了使机器人小车在特定的烟羽环境中,能够更快、更准确地寻找到气味源,通过对遗传算法交叉算子和变异箅子的改进,形成一种新的改进遗传算法.在5个假设前提下,将改进遗传算法应用到机器入主动嗅觉研究中.仿真结果表明:与传统的遗传算法相比,采用改进遗传算法,机器人小车能够更快速、更准确地寻找到烟羽中的气味源.%In the research of robots active olfaction based on genetic algorithm, in order to make the robot car in a specific plume environment, can be faster and more accurate to find the odor source, through improving the genetic algorithm crossover operator and mutation operator, a new improved genetic algorithm was formed. Based on five assumptions, the improved genetic algorithm was applied to the robot active olfaction study. Simulation results show that comparing with the traditional algorithm, the robot car can be faster and more accurate in finding the odor plume source using the improved genetic algorithm.

  18. 动物寄生线虫遗传多样性的研究进展%Research Progress on Genetic Diversity in Animal Parasitic Nematodes

    Institute of Scientific and Technical Information of China (English)

    殷方媛; 李法财; 赵俊龙; 胡敏

    2015-01-01

    The development of molecular genetic markers for parasitic nematodes has significant implications in fundamental and applied research in Veterinary Parasitology. Knowledge on genetic diversity of nematodes would not only provide a theoretical basis for understanding the spread of drug-resistance alleles, but also have implications in the development of nematode control strategies. This review discusses the applications of molecular genetic markers (RFLP, RAPD, PCR-SSCP, AFLP, SSR and mitochondrial DNA) in research on the genetic diversity of parasitic nematodes.%动物寄生线虫分子遗传标记的发展对兽医寄生虫学中的基础和应用研究领域有着重要意义。通过对线虫种群遗传多样性的研究,不仅能够为抗药性等位基因的扩散提供理论依据,而且对线虫病防治策略的制定具有指导作用。因此,本文就分子遗传标记( RFLP、 RAPD、 PCR-SSCP、 AFLP、 SSR 和线粒体 DNA )在寄生线虫遗传多样性研究中的应用进行综述。

  19. HmtDB, a Human Mitochondrial Genomic Resource Based on Variability Studies Supporting Population Genetics and Biomedical Research

    OpenAIRE

    Pappadà Graziano; Scioscia Gaetano; Lascaro Daniela; Santamaria Monica; Accetturo Matteo; Attimonelli Marcella; Russo Luigi; Zanchetta Luigi; Tommaseo-Ponzetta Mila

    2005-01-01

    Abstract Background Population genetics studies based on the analysis of mtDNA and mitochondrial disease studies have produced a huge quantity of sequence data and related information. These data are at present worldwide distributed in differently organised databases and web sites not well integrated among them. Moreover it is not generally possible for the user to submit and contemporarily analyse its own data comparing them with the content of a given database, both for population genetics ...

  20. [Medical genetic research on the Khanty population of the Ovgort rural district of the Yamal-Nenets Autonomous territory].

    Science.gov (United States)

    Puzyrev, V P; Abanina, T A; Nazarenko, L P; Lemza, S V; Ostretsova, O A

    1985-02-01

    The results of medico-genetical studies of the Khanty from the Lower Ob river carried out by Tomsk Department of Institute of Medical Genetics of Academy of Medical Sciences of the USSR are presented. The population is characterized by a relatively high index of endogamy (0.54) and a low inbreeding coefficient (0.0011). Diseases of the polygenic mode of inheritance predominate among nosological forms of hereditary pathology.

  1. Conclusion: Special issue on genetic and alcohol use disorder research with diverse racial/ethnic groups: Key findings and potential next steps.

    Science.gov (United States)

    Chartier, Karen G; Hesselbrock, Michie N; Hesselbrock, Victor M

    2017-08-01

    This special issue brings together papers focusing on a wide range of topics relevant to the research and understanding of the role of race/ethnicity and genetic variation for the susceptibility of developing an alcohol use disorder (AUD). The key findings from the issue's 10 articles are reviewed and organized here around three topics: I: addictive behaviors and potential environmental influences; II: a focus on four racial/ethnic groups; and III: special methodologies. Several potential next steps in improving effective research strategies are highlighted: (1) implementing best practices for outreach and community engagement may reduce reluctance to participate; (2) recruiting adequately sized and racially/ethnically diverse samples will require new collaborations with investigators who successfully work in diverse communities; (3) identifying and assessing environmental influences that are both unique to, and common among, racial/ethnic groups may inform preventions for AUD; (4) use of standardized measures will facilitate the generation of larger samples and meta-analysis of research findings; and (5) use of better analytic approaches and experimental methods will improve replication in gene finding research and help advance new areas of research. Genetic research of AUD in diverse racial/ethnic populations is advancing. The articles in this issue examined the general theme of including diverse population groups in genetic studies and offered potential strategies for addressing some common problems. Greater inclusion of diverse racial/ethnic populations in this research is important to ensure that the benefits of new knowledge and technology are equally shared. (Am J Addict 2017;26:532-537). © 2017 American Academy of Addiction Psychiatry.

  2. Research progress on genetically engineered vaccine of Bifidobacterium%双歧杆菌基因工程疫苗研究进展

    Institute of Scientific and Technical Information of China (English)

    高峰; 吴利先

    2009-01-01

    双歧杆菌是人类最早发现的生理性细菌之一,是能在健康人肠道内定植的益生菌.如今,随着分子生物技术的发展,双歧杆菌基因工程疫苗研究日趋受到重视.此文综述了双歧杆菌基因工程疫苗的理论基础、研究进展以及前景.%Bifidobacterium is one of the human first discovered physiological bacteria,and a beneficial bacterium that colonizing in the healthy people's intestinal canal.Today,with the development of molecular biotechnology,people pay more attention to the research on genetically engineered vaccine of Bifidobacterium.In this paper,the basic theory,research progress and the prospect about the genetically engineered vaccine of Bifidobacterium are reviewed.

  3. Research Progress of Genetically Modified Food from Consumer Perspective%消费者视角的转基因食品研究进展

    Institute of Scientific and Technical Information of China (English)

    马琳

    2013-01-01

    消费者对于转基因食品的态度是一个世界各国普遍关注的问题.对近期相关文献整理分析,从消费者对转基因食品的态度及其影响因素、支付意愿及其影响因素、转基因问题研究方法等方面进行综述,概括了基于消费者视角的转基因食品研究进展.%Consumers' attitude to genetically modified food is universally concerned by all the countries of the world. Based on the analysis of recent relevant literature, the consumers' attitude and influencing factors, willing to pay and influencing factors, transgene research methods were reviewed, the research progress of genetically modified food based on consumers' perspective was concluded.

  4. Using a Molecular-Genetic Approach to Investigate Bacterial Physiology in a Continuous, Research-Based, Semester-Long Laboratory for Undergraduates †

    OpenAIRE

    Jeremiah Foster Ault; Betsey Marie Renfro; Andrea Kirsten White

    2011-01-01

    Designing investigative laboratory exercises that encourage critical thinking, problem solving, and independent thought for upper-division biology courses is a difficult but worthwhile task. In an effort to do so, we developed a semester-long, continuous, research-based investigative laboratory that integrates numerous genetic and molecular biology methods into the investigation of a bacterial physiological process. In this lab, students use random Tn5 transposon mutagenesis to create prodigi...

  5. Quantitative genetics approaches to study evolutionary processes in ecotoxicology; a perspective from research on the evolution of resistance.

    Science.gov (United States)

    Klerks, Paul L; Xie, Lingtian; Levinton, Jeffrey S

    2011-05-01

    Quantitative genetic approaches are often used to study evolutionary processes in ecotoxicology. This paper focuses on the evolution of resistance to environmental contaminants-an important evolutionary process in ecotoxicology. Three approaches are commonly employed to study the evolution of resistance: (1) Assessing whether a contaminant-exposed population has an increased resistance relative to a control population, using either spatial or temporal comparisons. (2) Estimating a population's heritability of resistance. (3) Investigating responses in a laboratory selection experiment. All three approaches provide valuable information on the potential for contaminants to affect a population's evolutionary trajectory via natural selection. However, all three approaches have inherent limitations, including difficulty in separating the various genetic and environmental variance components, responses being dependent on specific population and testing conditions, and inability to fully capture natural conditions in the laboratory. In order to maximize insights into the long-term consequences of adaptation, it is important to not just look at resistance itself, but also at the fitness consequences and at correlated responses in characteristics other than resistance. The rapid development of molecular genetics has yielded alternatives to the "black box" approach of quantitative genetics, but the presence of different limitations and strengths in the two fields means that they should be viewed as complementary rather than exchangeable. Quantitative genetics is benefiting from the incorporation of molecular tools and remains an important field for studying evolutionary toxicology.

  6. Crop Genetics: The Seeds of Revolution.

    Science.gov (United States)

    DeYoung, H. Garrett

    1983-01-01

    Current research in plant genetics is described. Benefits of this research (which includes genetic engineering applications) will include reduction/elimination of crop diseases, assurance of genetic stability, and the creation of new crop varieties. (JN)

  7. An ultra-dense SNP linkage map for the octoploid, cultivated strawberry and its application in genetic research

    Science.gov (United States)

    We will present an ultra-dense genetic linkage map for the octoploid, cultivated strawberry (Fragaria x ananassa) consisting of over 13K Axiom® based SNP markers and 150 previously mapped reference SSR loci. The high quality of the map is demonstrated by the short sizes of each of the 28 linkage gro...

  8. Sankara Nethralaya Diabetic Retinopathy Epidemiology and Molecular Genetic Study (SN--DREAMS III: Study design and research methodology

    Directory of Open Access Journals (Sweden)

    Sahu Chinmaya

    2011-03-01

    Full Text Available Abstract Background To describe the methodology of the Sankara Nethralaya Diabetic Retinopathy Epidemiology and Molecular Genetic Study III, an ongoing epidemiological study to estimate the prevalence of Diabetes and Diabetic Retinopathy in rural population of Kanchipuram and Thiravallur districts of Tamil Nadu, India and to elucidate the clinical, anthropometric, biochemical and genetic risk factors associated with diabetic retinopathy in this rural population. Methods Sankara Nethralaya Diabetic Retinopathy Epidemiology and Molecular Genetic Study III will be a mobile van based epidemiological study; 11,760 participants aged ≥ 40 years will be recruited from the study areas. Eligible subjects will undergo blood sugar estimation to diagnose Diabetes. Oral Glucose Tolerance Test will be done to conform diabetes. All subjects with diabetes will undergo complete information of knowledge, aptitude and practice of diabetes and diabetic retinopathy, Diet questionnaire, demographic data, socioeconomic status, physical activity, anthropometric measurements, and risk of sleep apnoea. A detailed medical and ocular history, a comprehensive eye examination including refraction, slit lamp biomicroscopy examination, indirect ophthalmoscopy, slit lamp biomicroscopy, digital stereo fundus photography and ultrasound of eye will be done in the mobile van. Blood will be collected for biochemical investigations including blood hemoglobin, glycosylated hemoglobin, lipid profile, urea and creatinine, genetic study. Urine will be collected for microalbuminuria. All fundus photographs will be graded at base hospital. Participants who need treatment will be sent to the base hospital. A computerized database is created for the records. Conclusion The study is expected to provide an estimate of the prevalence of Diabetes and Diabetic Retinopathy and also a better understanding of the genetic, anthropometric and socio-economic risk factors associated with Diabetic

  9. Current Situations of Competitive Scientific Research Projects for Agri-scientific Research Institutions: A Case Study of Tropical Crops Genetic Resources Institute of Chinese Academy of Tropical Agricultural Sciences

    Institute of Scientific and Technical Information of China (English)

    Haiyan; LUO; Qingqun; YAO; Lizhen; CHEN; Yu; ZHENG

    2015-01-01

    This paper collected and arranged competitive scientific research projects undertaken by Tropical Crops Genetic Resources Institute of Chinese Academy of Tropical Agricultural Sciences in 2003-2014. Through statistical analysis on quantity of projects,funded amount,age of person responsible,professional title of person responsible,academic degree of person responsible,research object,it discussed relevant characteristics and rules. Finally,it came up with pertinent measures and recommendations,in the hope of providing services for decision-making and scientific and technological management.

  10. RESEARCH CONCERNING THE GENETIC STRUCTURE OF ROMANIAN SIMENTAL AND MARAMURES BROWN BREEEDS AT THE PITUITARY TRANSCRIPTION FACTOR LOCUS

    Directory of Open Access Journals (Sweden)

    VIORICA COSIER

    2013-12-01

    Full Text Available Pituitary transcription factor Pit-1, which belongs to a large POU domain family is a positive regulatory factor of growth hormone, prolactin and thyrotropin β-subunit in the mammalian pituitary. Therefore, the gene encoding Pit-1 was chosen as a candidate gene to investigate its association with lactation performance in cattle. The present study was carried out to establish the genetic structure at this locus in two Romanian cattle breeds: Romanian Simmental and Maramures Brown, to establish the possible association between genotype and milk yield and conformation traits. A strategy employing polymerase chain reaction was used to amplify a 1355- pb fragment from blood DNA and digestion with HinfI enzyme and the genetic structure was estimated for both breeds.

  11. Fundamental right to freedom of genetic research and the protection of personal data: the principles of prevention and precaution to guarantee the right to privacy

    Directory of Open Access Journals (Sweden)

    Regina Linden Ruaro

    2015-09-01

    Full Text Available This article reviews fundamental rights of freedom of research and protection of personal data in the field of human genetics, it proposes the application of the precautionary principle of prevention. Evaluates the Brazilian legislation on the subject matter of research as to guarantee privacy measure of personal data and information collected in scientific research, a situation that worsens in the middle in digital and virtual world because it is a space virtually rapid development. Focuses on the limitation of fundamental rights, based on the conception that are not absolute. It proposes the principles of precaution and prevention among virtual environment. The deductive and dialectical methods are adopted, having premised most fundamental rights related and under Brazilian law; the dialectical method was used because the issue is the subject of constant debate is necessary confrontation of doctrinal currents and the Brazilian legislation.

  12. New Genetics

    Science.gov (United States)

    ... Home > Science Education > The New Genetics The New Genetics Living Laboratories Classroom Poster Order a Free Copy ... Piece to a Century-Old Evolutionary Puzzle Computing Genetics Model Organisms RNA Interference The New Genetics is ...

  13. Genetic aspects of female reproduction

    NARCIS (Netherlands)

    Collins, J.; Diedrich, K.; Franks, S.; Geraedts, J. P. M.; Jacobs, P. A.; Karges, B.; Kennedy, S.; Marozzi, A.; Regan, L.; Baird, D. T.; Crosignani, P. G.; Devroey, P.; Diczfalusy, E.; Evers, J. L. H.; Fauser, B. C. J. M.; Fraser, L.; Gianaroli, L.; Glasier, A.; Liebaers, I.; Ragni, G.; Sunde, A.; Tarlatzis, B.; Van Steirteghem, A.

    2008-01-01

    BACKGROUND: Sexual reproduction provides the means for preserving genetic identity and in turn, genetic variability may affect the ability to reproduce. This review aims to summarize current research on genetic diagnosis and genetic causes of reproductive disorders.METHODS: Searches were done by sub

  14. Using a Molecular-Genetic Approach to Investigate Bacterial Physiology in a Continuous, Research-Based, Semester-Long Laboratory for Undergraduates

    Directory of Open Access Journals (Sweden)

    Jeremiah Foster Ault

    2011-09-01

    Full Text Available Designing investigative laboratory exercises that encourage critical thinking, problem solving, and independent thought for upper-division biology courses is a difficult but worthwhile task. In an effort to do so, we developed a semester-long, continuous, research-based investigative laboratory that integrates numerous genetic and molecular biology methods into the investigation of a bacterial physiological process. In this lab, students use random Tn5 transposon mutagenesis to create prodigiosin pigment mutants in the bacterium, Serratia marcescens. This is followed by phenotypic characterization, cloning, and sequencing the Tn insertion site to identify genes involved in pigment biosynthesis. During this lab, students gain ample experience performing basic lab techniques while learning about — and applying — methods for elucidating gene function. The approach to the laboratory and the outcomes are intimately integrated into the teaching of many fundamental physiological processes underlying prodigiosin production in bacteria. The result is a cohesive course that integrates the theory and application of molecular genetic techniques with the study of bacterial physiology. Assessments of student learning objectives demonstrated that students greatly improved their understanding of both physiological processes and the genetic techniques used to investigate them. In addition, students felt that this semester-long exercise provided the necessary laboratory experience they needed and desired in preparation for careers in molecular biology, microbiology, and biochemistry.

  15. Using a molecular-genetic approach to investigate bacterial physiology in a continuous, research-based, semester-long laboratory for undergraduates.

    Science.gov (United States)

    Ault, Jeremiah Foster; Renfro, Betsey Marie; White, Andrea Kirsten

    2011-01-01

    Designing investigative laboratory exercises that encourage critical thinking, problem solving, and independent thought for upper-division biology courses is a difficult but worthwhile task. In an effort to do so, we developed a semester-long, continuous, research-based investigative laboratory that integrates numerous genetic and molecular biology methods into the investigation of a bacterial physiological process. In this lab, students use random Tn5 transposon mutagenesis to create prodigiosin pigment mutants in the bacterium, Serratia marcescens. This is followed by phenotypic characterization, cloning, and sequencing the Tn insertion site to identify genes involved in pigment biosynthesis. During this lab, students gain ample experience performing basic lab techniques while learning about - and applying - methods for elucidating gene function. The approach to the laboratory and the outcomes are intimately integrated into the teaching of many fundamental physiological processes underlying prodigiosin production in bacteria. The result is a cohesive course that integrates the theory and application of molecular genetic techniques with the study of bacterial physiology. Assessments of student learning objectives demonstrated that students greatly improved their understanding of both physiological processes and the genetic techniques used to investigate them. In addition, students felt that this semester-long exercise provided the necessary laboratory experience they needed and desired in preparation for careers in molecular biology, microbiology, and biochemistry.

  16. Research Status of Genetic Engineering of Herbicide-resistant Plants%抗除草剂植物的基因工程研究现状

    Institute of Scientific and Technical Information of China (English)

    张化霜

    2011-01-01

    With the development of biological genetic engineering,transgenic herbicide-resistant crops have been widely planted all round the world,and great economic profits has been obtained.In this paper,the author reviewed the research of herbicide-resistant plants' genetic engineering as well as main measures and safety appraisal,and pointed out the development prospects of genetic engineering in herbicide-resistant plants.%随着生物基因工程的发展,转基因抗除草剂作物已在世界各地广泛种植并带来巨大的经济效益。综述了抗除草剂植物基因工程的研究概况、主要对策及安全性评估,并探讨了基因工程技术在抗除草剂植物中的发展前景。

  17. Advance in genetic research on multiple system atrophy%多系统萎缩的遗传学研究进展

    Institute of Scientific and Technical Information of China (English)

    侯漩; 江泓

    2015-01-01

    Multiple system atrophy (MSA) is a progressive neurodegenerative disorder.Widespread presence of glial cytoplasmic inclusions is the neuropathologic hallmark of MSA.The disease has long been considered as a sporadic disorder.However,in recent years,a few familial cases of MSA have been reported,and researches have verified certain genetic variants could increase the risk of MSA.These indicated genetic factors may play an imported role in the pathogenesis of MSA.In this review,the emerging evidence in favor of genetic players in MSA is discussed.%多系统萎缩(multiple system atrophy,MSA)是一种进行性神经系统退行性疾病.少突胶质细胞内包涵体是此病的特征性病理学标志物.长期以来,MSA被认为是散发性疾病,但近年来国内外报道了少数MSA家系,且研究发现其候选基因的某些变异可增加MSA的发病风险,这些表明遗传因素在MSA的发病机制中起着非常重要的作用.

  18. Research

    African Journals Online (AJOL)

    ebutamanya

    2014-08-16

    Aug 16, 2014 ... Ethical issues: The study was approved by the National ... genetic predispositions and environmental or herbal toxins were not .... BP= blood pressure; eGFR= estimated glomerular filtration rate according to MDRD equation.

  19. Research

    African Journals Online (AJOL)

    abp

    2017-06-22

    Jun 22, 2017 ... Ethics considerations: This study was laboratory-based with no direct contact with .... environmental or genetic factors which normally protect women .... tissue samples; B) PCR detection of HHV-8Lane M: 50 bp DNA marker ...

  20. How genetics research in Parkinson's disease is enhancing understanding of the common idiopathic forms of the disease.

    Science.gov (United States)

    Cookson, Mark R; Xiromerisiou, Georgia; Singleton, Andrew

    2005-12-01

    Rapid progress in genetics has meant that there are now five genes identified for 'Parkinson's disease'. The detailed phenotypes vary, but generally the dominant genes cause a Lewy body disease spectrum whereas recessive genes cause a milder parkinsonism with variable inclusion body pathology. The subject of this review is to highlight these discoveries and to discuss their relationships to idiopathic Parkinson's disease. In January 2004, mutations in PINK1, coding for a mitochondrial kinase, were found to be causal for recessive parkinsonism. Subsequently, several studies have found additional mutations associated with early onset parkinsonism. Some cases have been described with a phenotype much closer to idiopathic Parkinson's disease, but it does not appear that PINK1 is a major risk factor for the sporadic disease. Later in the same year, the LRRK2 gene was shown to cause a dominant disease with a broader phenotype. The protein product was named dardarin and contains GTPase and kinase domains. Lewy bodies have been reported in LRRK2 cases, potentially linking this gene with sporadic Parkinson's disease. One mutation, G2019S, is found in a significant percentage of cases, including sporadic Parkinson's disease. Mutations in these two genes, along with previously described Mendelian variants, are beginning to yield important information about loss of specific neuronal groups or to protein inclusion pathology. How this relates to sporadic Parkinson's disease, however, is not yet fully defined. There are clear phenotypic overlaps with genetic and sporadic Parkinson's disease, especially for the dominant genes, suggesting that common facets of pathogenesis may exist.

  1. The genetics of auricular development and malformation: new findings in model systems driving future directions for microtia research.

    Science.gov (United States)

    Cox, Timothy C; Camci, Esra D; Vora, Siddharth; Luquetti, Daniela V; Turner, Eric E

    2014-08-01

    Microtia is a term used to describe a wide array of phenotypic presentations of the outer ear. Although the majority of the cases are isolated in nature, much of our understanding of the causes of microtia has been driven by the identification of genes underlying syndromic forms where the anomaly co-presents with various other craniofacial and extra-craniofacial structural defects. In this review we discuss recent findings in mice deficient in Hoxa2, a key regulator of branchial arch patterning, which has necessitated a revision to the canonical model of pinna morphogenesis. The revised model will likely impact current classification schemes for microtia and, as we argue in this review, the interpretation of the developmental basis for various auricular malformations. In addition, we highlight recent studies in other mammalian species that are providing the first clues as to possible causes of at least some isolated anomalies and thus should now accelerate the search for the more elusive genetic contributions to the many isolated and non-syndromic cases of microtia. These findings, together with the application of new genome-level sequencing technologies and more thorough quantitative assessment of available mutant mouse resources, promise an exciting future for genetic studies in microtia.

  2. 子痫前期的基因遗传学研究进展%Research progress in genetics of pre-eclampsia

    Institute of Scientific and Technical Information of China (English)

    陈英(综述); 叶伟萍(审校)

    2016-01-01

    Pre-eclampsia, a pregnancy-specific condition, not only affects the health of mother and baby during pregnancy, but also has long-term consequences. In this review, we discuss some key factors regarded as important in the development of pre-eclampsia, including immune maladaptation, inadequate placentation, oxidative stress, and thrombo-sis. Genetic factors influence all of these proposed pathophysiological mechanisms. Genetic research offers an attractive strategy for studying the pathogenesis of pre-eclampsia, as it avoids the ethical and practical difficulties of conducting ba-sic science research during the preclinical phase of pre-eclampsia when the underlying pathological changes occur. Clari-fying the pathogenesis of genetics of preeclampsia provide new direction and ideas for disease prediction, prevention and treatment.%子痫前期是妊娠期特有疾病,不仅影响妊娠期母儿安危,而且还对其存在远期影响。引起子痫前期发生的重要因素包括免疫失衡、胎盘浅着床、氧化应激及血栓形成,而基因因子影响所有这些病理生理机制。基因遗传学方面的研究可能使子痫前期在表现出临床症状前就能被识别到,明确子痫前期的基因学发病机制,可为疾病的预测、预防、治疗提供新的方向和思路。

  3. 重组人甲状旁腺激素基因工程研究进展%Research Advances in Genetic Engineering of Recombinant Human Parathyroid Hormone

    Institute of Scientific and Technical Information of China (English)

    宋佳欢; 李敏; 高金湖; 邬敏辰

    2011-01-01

    Parathyroid hormone (PTH) is an alkaline polypeptide hormone which is secreted by the parathyroid gland cell. It mainly regulates metabolism of calcium and phosphorus in vertebrates. Currently, PTH and its analogues have been exploited into first-choice drugs for the treatment of osteoporosis. With the elucidation of PTH gene sequence, it has become a research hotspot to obtain recombinant PTH of high-efficiency, iow-toxicity and stability by means of genetic engineering. Here we present an overview of structure function, genetic engineering research and clinical application of PTH.%甲状旁腺激素(parathyroid hormone,PTH)是由甲状旁腺主细胞分泌的碱性单链多肽类激素.它主要调节脊椎动物体内钙和磷的代谢.目前,PTH及其类似物已成为治疗骨质疏松症的首选药物.随着PTH基因序列的阐明,通过基因工程手段获得高效、低毒、稳定的重组PTH,已成为研究热点.本文对PTH的结构功能、基因工程研究及临床应用问题进行综述.

  4. Developing a survey instrument to assess the readiness of primary care data, genetic and disease registries to conduct linked research: TRANSFoRm International Research Readiness (TIRRE survey instrument

    Directory of Open Access Journals (Sweden)

    Emily Leppenwell

    2013-05-01

    Full Text Available Background Clinical data are collected for routine care in family practice; there are also a growing number of genetic and cancer registry data repositories. The Translational Research and Patient Safety in Europe (TRANSFoRm project seeks to facilitate research using linked data from more than one source. We performed a requirements analysis which identified a wide range of data and business process requirements that need to be met before linking primary care and either genetic or disease registry data.Objectives To develop a survey to assess the readiness of data repositories to participate in linked research – the Transform International Research Readiness (TIRRE survey.Method We develop the questionnaire based on our requirement analysis; with questions at micro-, meso- and macro levels of granularity, study-specific questions about diabetes and gastro-oesophageal reflux disease (GORD, and research track record. The scope of the data required was extensive. We piloted this instrument, conducting ten preliminary telephone interviews to evaluate the response to the questionnaire.Results Using feedback gained from these interviews we revised the questionnaire; clarifying questions that were difficult to answer and utilising skip logic to create different series of questions for the various types of data repository. We simplified the questionnaire replacing free-text responses with yes/no or picking list options, wherever possible. We placed the final questionnaire online and encouraged its use (www.clininf.eu/jointirre/info.html.Conclusion Limited field testing suggests that TIRRE is capable of collecting comprehensive and relevant data about the suitability and readiness of data repositories to participate in linked data research.

  5. IgA肾病遗传学的研究进展%Research Progress of IgA Nephropathy Genetics

    Institute of Scientific and Technical Information of China (English)

    齐尔

    2012-01-01

    IgA nephropathy( IgAN ) is the most common form of primary glomerulonephritis worldwide. It is a polygenic, multifactorial and complex diseases. The discovery of familial IgAJN and diverse prevalence between different populations indicate a genetic mechanism in the development of IgAJN. By linkage analysis and candidate-gene association studies to find IgAJN susceptibility gene mapping and clear disease-causing mutation has been a hotspot of genetic studies recently. Defects in IgA, glycosylation lead to formation of immune complexes which constitute a heritable risk factor for IgAJN. Continuous improvement of genomics( including genome-wide association studies )offers promising tools for elucidating the genetic basis of IgAN. In the past few years, animal models of IgAJN have made a lot of advances and have reflected the pathogenesis of IgAJN from different aspects.%IgA肾病(IgAN)是世界范围内最常见的原发性肾小球肾炎,是一种多基因、多因素决定的复杂性疾病.家族聚集起病及发病率的人种差异均提示遗传因素为重要致病机制之一.通过连锁分析和候选基因关联研究的方法找到IgAN致病易患基因图谱和明确致病突变基因已成为当前研究的热点.血清IgA1糖基化的缺陷导致免疫复合物的形成,构成了遗传性IgAN的危险因素.不断完善的基因组学方法(包括全基因组关联研究)为阐明IgAN的遗传基础提供了有力的工具.近年来IgAN动物模型研究有了许多新的进展,从不同侧面反映了IgAN的发病机制.

  6. 立枯丝核菌遗传多样性的研究方法%Methodology in Researching of Genetic Variance of Rhizoctonia solani

    Institute of Scientific and Technical Information of China (English)

    王利红; 姜华; 王艳丽; 孙国昌

    2013-01-01

    Rhizoctonia solani Ktihn is a plant pathogenic fungus with a wide host range and abundant genetic diversity. The study on the genetic diversity of R. solani is a kind of research hotspot. In this paper, we reviewed several techniques widely used in the studies on the genetic diversity of R. solani. We interpreted and described the advantages and disadvantages of each method. Hyphal fusion is a traditional method, which requires the use of a microscope and is time-consuming and labor-intensive. The method for identifying the pattern of isoenzyme is simple, efficient and inexpensive, and has to be associated with other techniques. The fatty acids analysis is easy to be manipulated, and the cost is relatively low, but the method is limited by the strain growth conditions and the way of fatty acid esterified. Many molecular marker methods were used in the research on the genetic diversity of R. solani, each with the pros and cons, by comparison we suggest that the rDNA-ITS is the more appropriate method. The applications of these methods were also discussed in the paper.%立枯丝核菌(Rhizoctonia solani Kühn)是一个集合种,遗传多样性丰富.关于遗传多样性的研究一直是R.solani研究的热点.本文就用于R.solani遗传多样性研究的方法进行了综述.分别解释并阐述了各种方法的优缺点,其中菌丝融合法是研究R.solani遗传多样性的传统方法,该法需借助显微镜且耗时耗力;同工酶法简便、高效、低廉,但常需要与其它方法联用;脂肪酸法操作难度小,价格相对较低,但该法受菌株生长状况和脂肪酸脂化方法的限制;分子标记法方法众多,各有利弊,通过比较发现rDNA-ITS是研究R.solani遗传多样性比较合适的方法.本文还介绍了不同方法在R.solani遗传多样性研究中的具体应用.

  7. Genetic Pathways to Insomnia

    Directory of Open Access Journals (Sweden)

    Mackenzie J. Lind

    2016-12-01

    Full Text Available This review summarizes current research on the genetics of insomnia, as genetic contributions are thought to be important for insomnia etiology. We begin by providing an overview of genetic methods (both quantitative and measured gene, followed by a discussion of the insomnia genetics literature with regard to each of the following common methodologies: twin and family studies, candidate gene studies, and genome-wide association studies (GWAS. Next, we summarize the most recent gene identification efforts (primarily GWAS results and propose several potential mechanisms through which identified genes may contribute to the disorder. Finally, we discuss new genetic approaches and how these may prove useful for insomnia, proposing an agenda for future insomnia genetics research.

  8. Inside Look at Genetic Counseling

    Science.gov (United States)

    ... us An Inside Look at Genetic Counseling Katie Lewis is a genetic counselor and research coordinator at ... sequencing looks at almost all of a person’s genes. The basic idea is that the sequencing can ...

  9. Molecular genetics made simple

    Directory of Open Access Journals (Sweden)

    Heba Sh. Kassem

    2012-07-01

    Full Text Available Genetics have undoubtedly become an integral part of biomedical science and clinical practice, with important implications in deciphering disease pathogenesis and progression, identifying diagnostic and prognostic markers, as well as designing better targeted treatments. The exponential growth of our understanding of different genetic concepts is paralleled by a growing list of genetic terminology that can easily intimidate the unfamiliar reader. Rendering genetics incomprehensible to the clinician however, defeats the very essence of genetic research: its utilization for combating disease and improving quality of life. Herein we attempt to correct this notion by presenting the basic genetic concepts along with their usefulness in the cardiology clinic. Bringing genetics closer to the clinician will enable its harmonious incorporation into clinical care, thus not only restoring our perception of its simple and elegant nature, but importantly ensuring the maximal benefit for our patients.

  10. Genetic algorithms

    Science.gov (United States)

    Wang, Lui; Bayer, Steven E.

    1991-01-01

    Genetic algorithms are mathematical, highly parallel, adaptive search procedures (i.e., problem solving methods) based loosely on the processes of natural genetics and Darwinian survival of the fittest. Basic genetic algorithms concepts are introduced, genetic algorithm applications are introduced, and results are presented from a project to develop a software tool that will enable the widespread use of genetic algorithm technology.

  11. How well is Environmental Biosafety Research supporting the scientific debate on the biosafety of genetically modified organisms (GMOs)?

    Science.gov (United States)

    Craig, Wendy; Lewandowski, Remigiusz; Degrassi, Giuliano; Ripandelli, Decio

    2007-01-01

    One of the most direct routes to informing scientific debates is through the timely publication of relevant research results. By making a comparison of the number and type of articles published by Environmental Biosafety Research (EBR) with those from other journals active in the arena of GMO biosafety, it is possible to shed light on the answer to the question posed in the title. To do this, we have used a unique open access online tool, the Biosafety Bibliographic Database (BBD) that has been provided by ICGEB since 1990. As of June 2007, the BBD contained 6694 records pertaining to scientific publications (full references and abstracts), and appearing in international and national scientific periodicals and books. Based on the records in the BBD, biosafety research activity over the past 16-17 years can be summarized by analyzing basic statistics. The BBD should prove to be a useful starting point for diverse bibliometric studies of publications in this area.

  12. Advances in genetic research of obesity%肥胖症遗传学研究进展

    Institute of Scientific and Technical Information of China (English)

    钱明平

    2010-01-01

    肥胖症日益严重威胁公众健康,肥胖是环境和遗传因素相互作用的结果.本文主要从单基因病变、单核苷酸多态性(single nucleotide polymorphisms,SNPs)、神经机制和双胞胎研究等方面综述近年来的肥胖症遗传学进展.20余个明确导致人类常染色体显性遗传形式肥胖的单基因已经被发现,全基因组关联研究用来辨别在普通人群中肥胖存在的共同遗传变异,肥胖基因FTO(fat mass and obesity associated)被证明是一种能够使DNA的3-甲基胸腺嘧啶在体外去甲基化的双加氧酶,是最早发现的与人肥胖相关的基因.肥胖是一种代谢性疾病,更是一种神经行为障碍.瘦素是脂肪细胞衍生激素,它能够影响能量平衡的控制核心.%Obesity is a major public health problem and is a result of the interaction between environment and genetic factors. There are now at least 20 single genes that have been discovered to be associated with an autosomal form of human obesity. Genome-wide association studies are beginning to identify the common genetic variations that underpin difference in adiposity across the normal population. FTO has been shown to be a dioxygenase with an ability to demethylate 3-methylthymine in DNA in vitro, and is the first common obesity gene. Obesity is not only a metabolic disease but also more of a neurobehavioural disorder.

  13. From observational to dynamic genetics

    Directory of Open Access Journals (Sweden)

    Claire M. A. Haworth

    2014-01-01

    Full Text Available Twin and family studies have shown that most traits are at least moderately heritable. But what are the implications of finding genetic influence for the design of intervention and prevention programs? For complex traits, heritability does not mean immutability, and research has shown that genetic influences can change with age, context and in response to behavioural and drug interventions. The most significant implications for intervention will come when we move from observational genetics to investigating dynamic genetics, including genetically sensitive interventions. Future interventions should be designed to overcome genetic risk and draw upon genetic strengths by changing the environment.

  14. Proceedings of the joint WHO/TDR, NIAD, IAEA and Frontis workshop on bridging laboratory and field research for genetic control of disease vectors, Nairobi, Kenya 14-16 July 2004

    NARCIS (Netherlands)

    Knols, B.G.J.; Bossin, H.

    2006-01-01

    Contemporary research on genetic control of disease-transmitting insects knows two kinds of scientists: those that work in the laboratory and those known as `field people¿. Over the last decade, both groups seem to have developed differing research priorities, address fundamentally different aspects

  15. 美欧转基因食品安全政策比较研究%The Comparation Research about the Genetically Modified Food in Europe and America

    Institute of Scientific and Technical Information of China (English)

    胡日查; 马晨颉

    2014-01-01

    This paper describes the development of genetically modified food security of United States and Europe,the United States and Europe comparative analysis of the characteristics of genetically modified food safety policy and the causes,examine the problems and deficiencies of GM food safety policy exists. So our GM food safety policy development,should be based on the protection of national physical and mental health,through technical support,policy guidance and capacity building,promoting turn commercial application of gene technology research and genetically modified food,to protect our food security and food safety to provide support.%首先阐述了美欧转基因食品安全的发展现状,比较分析美欧转基因食品安全政策特点及形成原因,考察了我国转基因食品安全政策存在的问题和不足。为此,我国转基因食品安全政策制定,应在保障国民身心健康的基础上,通过相关技术支持、政策引导和能力建设,推进转基因技术的研发及转基因食品的商业化应用,为保障我国粮食安全和食品安全提供支撑。

  16. Research of Genetic Algorithm Applied in Integrated Circuit Design%应用于集成电路设计的遗传算法研究

    Institute of Scientific and Technical Information of China (English)

    吕琳君; 张瑛

    2013-01-01

    As the scale of integrated circuits is increasing,it makes higher design costs and longer design cycles. Modern optimization al-gorithm provides an effective way to improve the efficiency of circuit design,which is represented by the genetic algorithm. From the be-ginning of the description of the specific circuit,it describes genetic algorithm research status and results in analog,RF and digital IC de-sign. Focusing on different applications,deeply discuss the circuit topology structure and the algorithm improvement in coding method,fit-ness function and cross mechanism,etc. And finally a perspective for the genetic algorithm application in the future integrated circuit de-sign is dressed out in the paper.%  随着集成电路规模的不断增大,其设计成本越来越高,设计周期也随之变得更长,以遗传算法为代表的现代优化算法提供了一种提升电路设计效率的有效途径。文章从描述具体电路实例入手,阐述了遗传算法应用于模拟﹑射频与数字集成电路设计中的研究现状和成果。针对集成电路设计的不同应用方向,深入探讨了各种电路的拓扑结构,以及算法在编码方式、适应度函数和交叉机理等方面的改进,并对遗传算法在未来集成电路设计中的应用进行了展望。

  17. Commentary on research of bone morphogenetic protein discussed in review article: Genetic advances in the regeneration of the intervertebral disc.

    Science.gov (United States)

    Epstein, Nancy E

    2013-01-01

    In Maerz, Herkowitz and Baker's review, Molecular and Genetic Advances in the Regeneration of the Intervertebral Disc, they also included an assessment of both in vivo and in vitro complications attributed to Bone Morphogenetic Protein ((BMP): BMP-2, BMP-7). This topic is of particular interest to spinal surgeons, as INFUSE/BMP (Medtronic, Memphis, TN, USA) is utilized, mostly off-label in the cervical, thoracic, and lumbar spine, where it has been associated with significant perioperative and postoperative complications. BMP-2 and BMP-7 are the only human recombinant growth factors approved by the Food and Drug Administration (FDA) for anterior lumbar interbody fusion (ALIF) in combination with the Lumbar Tapered Fusion Device (LT Cage: Medtronic, Memphis, TN, USA). BMP, however, is more typically utilized "off-label" in many other areas of the spine, where it has been associated with numerous complications. Maerz, et al. documented multiple in vivo and in vitro laboratory-based animal studies dating back to the early 2000's in which BMP (INFUSE is the clinically available product: Medtronic, Memphis, TN) contributed to multiple complications, especially when utilized at higher doses. These complications included; inflammation/inflammatory processes, increased vascularity, fibroblastic proliferation, and catabolism. Maerz, et al. reviewed the increased risks associated with utilizing high dose BMP=INFUSE in spinal surgery, particularly when utilized "off-label". The authors clearly indicate that BMP/INFUSE should be further investigated (based on the old and new findings) to better determine/confirm its safety, efficacy, and dosing.

  18. Genetic Counseling

    Science.gov (United States)

    Genetic counseling provides information and support to people who have, or may be at risk for, genetic disorders. A ... meets with you to discuss genetic risks. The counseling may be for yourself or a family member. ...

  19. Zebrafish as a unique model system in bone research: the power of genetics and in vivo imaging

    NARCIS (Netherlands)

    Spoorendonk, K.M.; Hammond, C.L.; Huitema, L.F.A.; Vanoevelen, J.; Schulte-Merker, S.

    2010-01-01

    For many years bone research has been mainly performed in mice, chicken, cell culture systems or human material from the clinic. In this review, we describe the features of zebrafish (Danio rerio), a relatively new model system in this field. This small teleost offers possibilities which make it a g

  20. Progress of molecular genetics research on rheumatoid arthritis%类风湿关节炎的分子遗传学研究进展

    Institute of Scientific and Technical Information of China (English)

    陈蓉; 罗家明; 张丁丁

    2015-01-01

    Rheumatoid arthritis (RA) is a chronic, inflammatory, autoimmune disorder that principally attacks flexible joints and synovia.The precise pathogenesis of RA remains unclear, and genetic factors probably play an important role in its etiology.In addition to genes from human leukocyte antigen (HLA) region, such as HLA-DRB, genes from non-HLA region, such as TIM 3、PTPN22, TRAF1/C5,STAT4, CCR5, PADI4 and FCGR2A may also contribute to its susceptibility.The advance in molecular genetics research on RA is reviewed here.%类风湿关节炎(rheumatoid arthritis,RA)是一种慢性、炎性、自身免疫性疾病,主要累及关节和滑膜,其发病机制尚待探明,遗传因素在RA的发病中起着重要作用.RA的易感基因除人类白细胞抗原(humanleukocyte antigen,HLA)区域的HLA-DRB等基因外,还有非HLA区域的TIM-3、PTPN22、TRAF1/C5、STAT4、CCR5、PADI4、FCGR2A等基因.

  1. The genetics research on polycystic ovary syndrome%多囊卵巢综合征的遗传学研究进展

    Institute of Scientific and Technical Information of China (English)

    梁阿娟

    2012-01-01

    多囊卵巢综合征(polycystic ovary syndrome,PCOS)不仅仅属于生殖系统疾病,同时被认为是一种累及全身、危害女性终生健康的内分泌代谢性疾病.因此,对PCOS的认识已远远超出了生殖健康的范畴.本文综述PCOS的分子遗传学和表观遗传学方面的研究及其现阶段遇到的问题和未来的发展,为其治疗提供依据.%Polycystic ovary syndrome (PCOS) not only belongs to reproductive system diseases, and at the same time to be considered as a kind of involving the whole body, and harm of the lifelong fitness female endocrine metabolic disease. Therefore, the understanding of the PCOS has far exceeded the reproductive health category. This paper reviewes the molecular genetics PCOS and apparent genetics research, and the present problems and the future development, to provide the basis for the treatment of PCOS.

  2. 甘蔗抗逆基因工程育种研究进展%RESEARCH PROGRESS ON GENETIC ENGINEERING OF STRESS TOLERANCE IN SUGARCANE

    Institute of Scientific and Technical Information of China (English)

    张志勇; 雷朝云; 蒙秋伊; 卢加举

    2012-01-01

    病虫害、干旱、低温是甘蔗生产中主要的生物和非生物胁迫因素,给甘蔗生产造成巨大损失。提高甘蔗抗逆性是甘蔗育种的重要目标。基因工程技术在作物遗传改良中应用广泛,为甘蔗抗逆育种提供了有效途径。本文概述了转基因技术在甘蔗抗病虫害、抗旱、抗寒方面的研究进展,并提出了该领域尚存在的一些问题及其应用前景展望。%Disease and insect pest,drought and low temperature were the main biotic and abiotic stresses causing significant loss in sugarcane production.Improvement of stress tolerance is the main objective in sugarcane breeding.Genetic engineering has been widely used in crops genetic improvement and provided an effective tool enhancing the resistance to stresses in sugarcane.In this paper,the research progress on transgenic approaches for disease and pest resistance,drought and cold tolerance in sugarcane were summarized.In addition,some problems in this field and the prospects of its utilization were discussed.

  3. 早产儿呼吸窘迫综合征遗传学研究进展%Genetic research progress of respiratory distress syndrome in preterm infants

    Institute of Scientific and Technical Information of China (English)

    滕飞飞(综述); 赵武(审校)

    2015-01-01

    呼吸窘迫综合征( respiratory distress syndrome,RDS)是早产儿常见的呼吸系统疾病危重症,肺表面活性物质缺乏是其主要发病机制。近年来研究表明,遗传易患性参与早产儿RDS的发病。该文对近年来国内外关于早产儿RDS的遗传易患性及相关候选基因的研究进展作一综述。%Respiratory distress syndrome( RDS) is a critical respiratory disease and commonly occurs in preterm infants. Preterm RDS is mainly due to the deficiency of lung surfactant. However,recent studies have in-dicated that genetic susceptibility may involve in the pathogenesis of RDS in preterm infants. In this paper,recent research progresses of genetic susceptibility and related candidate genes of RDS in preterm infants at home and abroad are reviewed.

  4. Genetics and Developmental Psychology

    Science.gov (United States)

    Plomin, Robert

    2004-01-01

    One of the major changes in developmental psychology during the past 50 years has been the acceptance of the important role of nature (genetics) as well as nurture (environment). Past research consisting of twin and adoption studies has shown that genetic influence is substantial for most domains of developmental psychology. Present research…

  5. Genetics and Developmental Psychology

    Science.gov (United States)

    Plomin, Robert

    2004-01-01

    One of the major changes in developmental psychology during the past 50 years has been the acceptance of the important role of nature (genetics) as well as nurture (environment). Past research consisting of twin and adoption studies has shown that genetic influence is substantial for most domains of developmental psychology. Present research…

  6. Research progression on preimplantation genetic diagnosis and screening%胚胎植入前遗传学诊断和筛查的研究进展

    Institute of Scientific and Technical Information of China (English)

    刘茜桐; 田莉; 师娟子

    2016-01-01

    胚胎植入前遗传学诊断( PGD)和筛查( PGS)是近年来发展的植入前遗传学检测( PGT)方法。 PGD主要适用于父母携带基因突变或染色体平衡易位,通过体外受精,在胚胎移植前检测特定的突变以及非平衡染色体异常是否传递到卵子或胚胎。 PGS是运用相同的检测方法检测胚胎染色体非整倍性,通过移植正常的胚胎从而提高妊娠率。 PGD/PGS相关检测技术发展日新月异,传统FISH技术逐渐被取代,更多的新技术也在研发中。但是,PGD/PGS仍存在费用昂贵,无法检测所有胚胎异常等不足之处。该文综述PGD/PGS相关进展和PGD/PGS所存在的问题。%Preimplantation genetic diagnosis ( PGD) and preimplantation genetic screening ( PGS) are recently developed preimplantation genetic testing ( PGT) .PGD is applied when one or both genetic parents carry a gene mutation or a balanced chromosomal rearrangement and testing is performed to determine whether that specific mutation or an unbalanced chromosomal complement has been transmitted to the oocyte or embryo .PGS uses the same method for detecting embryo chromosomal aneuploidy in order to improve pregnancy rate .With the development of new technology related with PGD /PGS, FISH is gradually being replaced and new methods are under research .However , PGD/PGS is expensive and can not detect all abnormalities of the embryo .This article reviewed the advancement and shortcomings of PGD/PGS.

  7. PS1-18: A Feasibility Pilot to Determine the Practicality of Using the HMO Research Network to Research the Genetics of Drug-Induced Serious Adverse Events

    Science.gov (United States)

    Hemmes, Mia; Arterburn, David; Gerhard, Glen; McCarty, Catherine; Nakasato, Cynthia; Pawloski, Pamala; Rukstalis, Margaret; Schmelzer, John; Yale, Steven; Davis, Robert

    2011-01-01

    . Confirmation rates varied from 17% for DILI to 2–79% for SSR and 23–30% for EWG. Conclusions The SAEC and HMORN study sites identified well-phenotyped cases with the targeted drug-induced SAEs of interest. The relative success of these efforts has been critical in the planning of a larger second study that will include analyses of genetic factors associated with provisional case SAEs.

  8. 豇豆分子遗传学研究进展%Research Progress of Molecular Genetics in Cowpea (Vigna unguiculata)

    Institute of Scientific and Technical Information of China (English)

    潘磊; 李依; 余晓露; 李佳楠; 陈禅友

    2014-01-01

    重点总结归纳了豆科重要植物豇豆的分子水平的研究进展,如豇豆种质资源基因库、种质资源的 DNA 分子标记评价、遗传图谱的构建、功能基因的发掘与鉴定、豇豆转基因发展概况以及豇豆的分子系统进化等研究进展,对前景进行了展望,以期为豇豆种质资源的保护、发掘和利用提供理论和实践依据。%In this article, we mainly summarized research progress of cowpea (Vigna unguiculata), an important legume crop at molecular level, such as germplasm resources gene pool of cowpea, evaluation on DNA molecular markers of germplasm resources, construction of genetic maps, excavation and identification of functional genes, development situation of transgenic cowpea research, progress of molecular phylogeny and evolution study in cowpea and so on, and described research and application prospect in the future, in order to provide theoretical and practical basis for protection, exploration and utilization of cowpea germplasm resources.

  9. Genetics and biology of Anastrepha fraterculus: research supporting the use of the sterile insect technique (SIT) to control this pest in Argentina

    Science.gov (United States)

    2014-01-01

    Two species of true fruit flies (taxonomic family Tephritidae) are considered pests of fruit and vegetable production in Argentina: the cosmopolitan Mediterranean fruit fly (Ceratitis capitata Wiedemann) and the new world South American fruit fly (Anastrepha fraterculus Wiedemann). The distribution of these two species in Argentina overlaps north of the capital, Buenos Aires. Regarding the control of these two pests, the varied geographical fruit producing regions in Argentina are in different fly control situations. One part is under a programme using the sterile insect technique (SIT) for the eradication of C. capitata, because A. fraterculus is not present in this area. The application of the SIT to control C. capitata north of the present line with the possibility of A. fraterculus occupying the niche left vacant by C. capitata becomes a cause of much concern. Only initial steps have been taken to investigate the genetics and biology of A. fraterculus. Consequently, only fragmentary information has been recorded in the literature regarding the use of SIT to control this species. For these reasons, the research to develop a SIT protocol to control A. fraterculus is greatly needed. In recent years, research groups have been building a network in Argentina in order to address particular aspects of the development of the SIT for Anastrepha fraterculus. The problems being addressed by these groups include improvement of artificial diets, facilitation of insect mass rearing, radiation doses and conditions for insect sterilisation, basic knowledge supporting the development of males-only strains, reduction of male maturation time to facilitate releases, identification and isolation of chemical communication signals, and a good deal of population genetic studies. This paper is the product of a concerted effort to gather all this knowledge scattered in numerous and often hard-to-access reports and papers and summarize their basic conclusions in a single publication

  10. Genetics and biology of Anastrepha fraterculus: research supporting the use of the sterile insect technique (SIT) to control this pest in Argentina.

    Science.gov (United States)

    Cladera, Jorge L; Vilardi, Juan C; Juri, Marianela; Paulin, Laura E; Giardini, M Cecilia; Gómez Cendra, Paula V; Segura, Diego F; Lanzavecchia, Silvia B

    2014-01-01

    Two species of true fruit flies (taxonomic family Tephritidae) are considered pests of fruit and vegetable production in Argentina: the cosmopolitan Mediterranean fruit fly (Ceratitis capitata Wiedemann) and the new world South American fruit fly (Anastrepha fraterculus Wiedemann). The distribution of these two species in Argentina overlaps north of the capital, Buenos Aires. Regarding the control of these two pests, the varied geographical fruit producing regions in Argentina are in different fly control situations. One part is under a programme using the sterile insect technique (SIT) for the eradication of C. capitata, because A. fraterculus is not present in this area. The application of the SIT to control C. capitata north of the present line with the possibility of A. fraterculus occupying the niche left vacant by C. capitata becomes a cause of much concern. Only initial steps have been taken to investigate the genetics and biology of A. fraterculus. Consequently, only fragmentary information has been recorded in the literature regarding the use of SIT to control this species. For these reasons, the research to develop a SIT protocol to control A. fraterculus is greatly needed. In recent years, research groups have been building a network in Argentina in order to address particular aspects of the development of the SIT for Anastrepha fraterculus. The problems being addressed by these groups include improvement of artificial diets, facilitation of insect mass rearing, radiation doses and conditions for insect sterilisation, basic knowledge supporting the development of males-only strains, reduction of male maturation time to facilitate releases, identification and isolation of chemical communication signals, and a good deal of population genetic studies. This paper is the product of a concerted effort to gather all this knowledge scattered in numerous and often hard-to-access reports and papers and summarize their basic conclusions in a single publication.

  11. [Researches of soil normalized difference water index (NDWI) of Yongding River based on multispectral remote sensing technology combined with genetic algorithm].

    Science.gov (United States)

    Mao, Hai-ying; Feng, Zhong-ke; Gong, Yin-xi; Yu, Jing-xin

    2014-06-01

    Basin soil type, moisture content and vegetation cover index are important factors affecting the basin water of Yongding River, using traditional sampling method to investigate soil moisture and the watershed soil type not only consuming a lot of manpower and material resources but also causing experimental error because of the instrument and other objective factors. This article selecting the Yongding River Basin-Beijing section as the study area, using total station instruments to survey field sampling and determination 34 plots, combined with 6 TM image data from 1978 to 2009 to extract soil information and the relationship between region's soil type, soil moisture and remote sensing factors. Using genetic algorithms normalization to select key factors which influenced NDWI, which is based on the green band and near-infrared bands normalized ratio index, usually used to extract water information in the image. In order to accurate screening and factors related to soil moisture, using genetic algorithms preferred characteristics, accelerate the convergence by controlling the number of iterations to filter key factor. Using multiple regression method to establish NDWI inversion model, which analysis the accuracy of model is 0.987, also use the species outside edges tree to meet accuracy test, which arrived that soil available nitrogen, phosphorus and potassium content and longitude correlation is not obvious, but a positive correlation with latitude and soil, inner precision researched 87.6% when the number of iterations to achieve optimal model calculation Maxgen. Models between NDWI and vegetation cover, topography, climate ect, through remote sensing and field survey methods could calculate the NDWI values compared with the traditional values, arrived the average relative error E is -0.021%, suits accord P reached 87.54%. The establishment of this model will be provide better practical and theoretical basis to the research and analysis of the watershed soil

  12. Research

    African Journals Online (AJOL)

    A possible strategy to influence students' understanding and perception ... researcher in higher education teaching and learning facilitated the data- ..... B. Qualitative content analysis in nursing research: Concepts, procedures and measures.

  13. Research advances of chitosan nanoparticles as genetic carriers%壳聚糖纳米粒子基因载体的研究现状

    Institute of Scientific and Technical Information of China (English)

    李广峰; 杨建东

    2011-01-01

    背景:壳聚糖纳米粒子因其独有特性作为基因载体的研究日益增多.目的:综述了壳聚糖纳米粒子作为基因载体的研究进展,进一步促进基因治疗的效果.方法:应用计算机检索web of science 数据库和中国学术期刊数据库中2000-01/2011-04 关于壳聚糖及其衍生物作为基因载体研究的文章,在标题和摘要中以"chitosan,gene"或 "壳聚糖;基因"为检索词进行检索.选择内容与基因载体和壳聚糖相关的文章,初检得到120 篇文献,根据纳入标准选择31 篇文章进行综述.结果与结论:壳聚糖基因纳米粒子作为非病毒基因述文章的数量、主要结载体将在基因治疗领域中发挥举足轻重的作用,今后壳聚糖转基因体系的研究将更为深入.如何标记、可视跟踪壳聚糖DNA 复合物进入不同细胞的过程,明确其基因转染机制,进一步提高基因转染效率,使其尽快进入基因治疗临床应用是今后研究的主要方向.%BACKGROUND: In recent years, studies of chitosan as a genetic carrier multiplied for its own characteristics have been increased gradually.OBJECTIVE: To review the research advances of chitosan nanoparticles as a genetic carrier, and to further improve the effect of gene therapy.METHODS: Web of Science and CNKI databases were searched (2000-01/2011-04) with the key words of “chitosan, gene” in English and Chinese, respectively. 120 articles related to gene carrier and chitosan were selected firstly, and finally 31 articles were included in result analysis.RESULTS AND CONCLUSION: Chitosan gene nanoparticle as the non viral gene carrier will play a vital role in this field in the future. Research of chitosan genetically modified system will be more deeply. How to mark, visually track the process of chitosan DNA complex into different cells, make the genetic carrying mechanism clear, improve efficiency, make gene therapy into clinical application as soon as possible will be the main

  14. Genetic Susceptibility to Atherosclerosis

    Directory of Open Access Journals (Sweden)

    Sanja Kovacic

    2012-01-01

    Full Text Available Atherosclerosis is a complex multifocal arterial disease involving interactions of multiple genetic and environmental factors. Advances in techniques of molecular genetics have revealed that genetic ground significantly influences susceptibility to atherosclerotic vascular diseases. Besides further investigations of monogenetic diseases, candidate genes, genetic polymorphisms, and susceptibility loci associated with atherosclerotic diseases have been identified in recent years, and their number is rapidly increasing. This paper discusses main genetic investigations fields associated with human atherosclerotic vascular diseases. The paper concludes with a discussion of the directions and implications of future genetic research in arteriosclerosis with an emphasis on prospective prediction from an early age of individuals who are predisposed to develop premature atherosclerosis as well as to facilitate the discovery of novel drug targets.

  15. Molecular Population Genetics

    Science.gov (United States)

    Casillas, Sònia; Barbadilla, Antonio

    2017-01-01

    Molecular population genetics aims to explain genetic variation and molecular evolution from population genetics principles. The field was born 50 years ago with the first measures of genetic variation in allozyme loci, continued with the nucleotide sequencing era, and is currently in the era of population genomics. During this period, molecular population genetics has been revolutionized by progress in data acquisition and theoretical developments. The conceptual elegance of the neutral theory of molecular evolution or the footprint carved by natural selection on the patterns of genetic variation are two examples of the vast number of inspiring findings of population genetics research. Since the inception of the field, Drosophila has been the prominent model species: molecular variation in populations was first described in Drosophila and most of the population genetics hypotheses were tested in Drosophila species. In this review, we describe the main concepts, methods, and landmarks of molecular population genetics, using the Drosophila model as a reference. We describe the different genetic data sets made available by advances in molecular technologies, and the theoretical developments fostered by these data. Finally, we review the results and new insights provided by the population genomics approach, and conclude by enumerating challenges and new lines of inquiry posed by increasingly large population scale sequence data. PMID:28270526

  16. Molecular Population Genetics.

    Science.gov (United States)

    Casillas, Sònia; Barbadilla, Antonio

    2017-03-01

    Molecular population genetics aims to explain genetic variation and molecular evolution from population genetics principles. The field was born 50 years ago with the first measures of genetic variation in allozyme loci, continued with the nucleotide sequencing era, and is currently in the era of population genomics. During this period, molecular population genetics has been revolutionized by progress in data acquisition and theoretical developments. The conceptual elegance of the neutral theory of molecular evolution or the footprint carved by natural selection on the patterns of genetic variation are two examples of the vast number of inspiring findings of population genetics research. Since the inception of the field, Drosophila has been the prominent model species: molecular variation in populations was first described in Drosophila and most of the population genetics hypotheses were tested in Drosophila species. In this review, we describe the main concepts, methods, and landmarks of molecular population genetics, using the Drosophila model as a reference. We describe the different genetic data sets made available by advances in molecular technologies, and the theoretical developments fostered by these data. Finally, we review the results and new insights provided by the population genomics approach, and conclude by enumerating challenges and new lines of inquiry posed by increasingly large population scale sequence data. Copyright © 2017 Casillas and Barbadilla.

  17. Ethics Policies and Ethics Work in Cross-national Genetic Research and Data Sharing: Flows, Nonflows, and Overflows

    DEFF Research Database (Denmark)

    Hoeyer, Klaus; Tupasela, Aaro; Rasmussen, Malene Bøgehus

    2016-01-01

    scientific output. In tandem with this promotion of data sharing, numerous ethics policies are developed to control data flows and protect privacy and confidentiality. Both sets of policymaking, however, pay limited attention to the moral decisions and social ties enacted in the everyday routines......In recent years, cross-national collaboration in medical research has gained increased policy attention. Policies are developed to enhance data sharing, ensure open access, and to harmonize international standards and ethics rules in order to promote access to existing resources and increase......? We explore what we call the flows, the non-flows and the overflows of material and information, and we document the work producing the flows of health data and biomaterial. We call this work “ethics work” and argue that it is crucial for data sharing though it is rarely articulated in ethics policies...

  18. Ethics Policies and Ethics Work in Cross-National Genetic Research and Data Sharing: Flows, Nonflows, and Overflows

    DEFF Research Database (Denmark)

    Hoeyer, Klaus; Tupasela, Aaro; Rasmussen, Malene Bøgehus

    2017-01-01

    scientific output. In tandem with this promotion of data sharing, numerous ethics policies are developed to control data flows and protect privacy and confidentiality. Both sets of policymaking, however, pay limited attention to the moral decisions and social ties enacted in the everyday routines......In recent years, cross-national collaboration in medical research has gained increased policy attention. Policies are developed to enhance data sharing, ensure open access, and to harmonize international standards and ethics rules in order to promote access to existing resources and increase......? We explore what we call the flows, the non-flows and the overflows of material and information, and we document the work producing the flows of health data and biomaterial. We call this work “ethics work” and argue that it is crucial for data sharing though it is rarely articulated in ethics policies...

  19. Genetic toxicology: web resources.

    Science.gov (United States)

    Young, Robert R

    2002-04-25

    Genetic toxicology is the scientific discipline dealing with the effects of chemical, physical and biological agents on the heredity of living organisms. The Internet offers a wide range of online digital resources for the field of Genetic Toxicology. The history of genetic toxicology and electronic data collections are reviewed. Web-based resources at US National Library of Medicine (NLM), including MEDLINE, PUBMED, Gateway, Entrez, and TOXNET, are discussed. Search strategies and Medical Subject Headings (MeSH) are reviewed in the context of genetic toxicology. The TOXNET group of databases are discussed with emphasis on those databases with genetic toxicology content including GENE-TOX, TOXLINE, Hazardous Substances Data Bank, Integrated Risk Information System, and Chemical Carcinogenesis Research Information System. Location of chemical information including chemical structure and linkage to health and regulatory information using CHEMIDPLUS at NLM and other databases is reviewed. Various government agencies have active genetic toxicology research programs or use genetic toxicology data to assist fulfilling the agency's mission. Online resources at the US Food and Drug Administration (FDA), the US Environmental Protection Agency (EPA), the National Institutes of Environmental Health Sciences, and the National Toxicology Program (NTP) are outlined. Much of the genetic toxicology for pharmaceuticals, industrial chemicals and pesticides that is performed in the world is regulatory-driven. Regulatory web resources are presented for the laws mandating testing, guidelines on study design, Good Laboratory Practice (GLP) regulations, and requirements for electronic data collection and reporting. The Internet provides a range of other supporting resources to the field of genetic toxicology. The web links for key professional societies and journals in genetic toxicology are listed. Distance education, educational media resources, and job placement services are also

  20. Ecologically relevant stress resistance: from microarrays and quantitative trait loci to candidate genes – A research plan and preliminary results using Drosophila as a model organism and climatic and genetic stress as model stresses

    Indian Academy of Sciences (India)

    Volker Loeschcke; Jesper G Sørensen; Torsten N Kristensen

    2004-12-01

    We aim at studying adaptation to genetic and environmental stress and its evolutionary implications at different levels of biological organization. Stress influences cellular processes, individual physiology, genetic variation at the population level, and the process of natural selection. To investigate these highly connected levels of stress effects, it is advisable – if not critical – to integrate approaches from ecology, evolution, physiology, molecular biology and genetics. To investigate the mechanisms of stress resistance, how resistance evolves, and what factors contribute to and constrain its evolution, we use the well-defined model systems of Drosophila species, representing both cosmopolitan species such as D. melanogaster with a known genome map, and more specialized and ecologically well described species such as the cactophilic D. buzzatii. Various climate-related stresses are used as model stresses including desiccation, starvation, cold and heat. Genetic stress or genetic load is modelled by studying the consequences of inbreeding, the accumulation of (slightly) deleterious mutations, hybridization or the loss of genetic variability. We present here a research plan and preliminary results combining various approaches: molecular techniques such as microarrays, quantitative trait loci (QTL) analyses, quantitative PCR, ELISA or Western blotting are combined with population studies of resistance to climatic and genetic stress in natural populations collected across climatic gradients as well as in selection lines maintained in the laboratory.

  1. 向日葵基因工程研究进展%Research Progress on Sunflower (Helianthus annuus L.)Genetic Engineering

    Institute of Scientific and Technical Information of China (English)

    司立平; 李联社; 吴燕民

    2012-01-01

    Sunflower ( Helianthus annuus L. ) is one of the 4 major oil crops in the world, and has good adaptability, high aridity tolerance and other excellent characteristics. With the effect of global environment and climate changes on agro-ecosystems, the daily increasing usage of sunflower is expanding. The breeding of sunflower is aiming at drought and salt tolerance, insect and disease resistance and superior quality. But these higher breeding objectives are difficult to achieve through conventional breeding method in a short period of time, while the molecular breeding has provided a convenient and practical way to culture and improve new varieties of sunflower. This paper reviewed and summarized the progress made during the past over 20 years in sunflower in vitro regeneration, genetic transformation and transgenic researches. It also analyzed the existing problems in sunflower genetic engineering research, and prospected the development trends of this research.%向日葵作为世界四大主要油料作物之一,具有适应性强、耐贫瘠等优良特性.随着全球环境与气候变化对农业生态系统的影响及向日葵用途的日益扩大,耐旱耐盐、抗虫抗病、提高品质已成为向日葵育种的更高目标,但这些目标通过传统育种难以在短时间内实现,而以现代生物技术为手段的分子育种,为培育和改良向日葵新品种提供了一条便捷和实用的途径.对过去20多年来,向日葵的体外再生、遗传转化、转基因研究等方面的进展进行了全面总结和综述,分析了目前向日葵基因工程研究中存在的问题,就发展前景进行了展望.

  2. Arthritis Genetics Analysis Aids Drug Discovery

    Science.gov (United States)

    ... Matters NIH Research Matters January 13, 2014 Arthritis Genetics Analysis Aids Drug Discovery An international research team ... may play a role in triggering the disease. Genetic factors are also thought to play a role. ...

  3. 先天性白内障的分子遗传学研究进展%Current research on molecular genetics of congenital cataract

    Institute of Scientific and Technical Information of China (English)

    王云

    2013-01-01

    先天性白内障是世界范围内约1/10儿童致盲的主要原因,是中国儿童致盲的第二大眼病.先天性白内障30% ~50%具有遗传性,主要为常染色体显性遗传,还包括常染色体隐性遗传、X连锁遗传等.通过连锁分析等方法已发现近20多种致病基因、数百个突变位点与不同类型的先天性白内障发病有关,目前根据白内障致病基因的功能不同分为晶状体蛋白基因、膜蛋白相关基因、转录因子调节基因及其他基因4类,各种类型的致病基因通过不同的机制引起的先天性白内障表型不同.了解先天性白内障的致病基因及其分子遗传学机制对于该病的基因学诊断和治疗具有重要意义.就近年来先天性白内障的分子遗传学研究进展进行综述.%Congenital cataract accounts for 10% of childhood blindness worldwide and is the second leading cause of childhood blindness in China.30%-50% of congenital cataract patients are caused by heritability,and majority of them is autosomal dominant traits.In addition,autosomal recessive and X-linked fashion also are found to lead to congenital cataract.Up to now,more than 20 disease-causing genes and 100 mutation locus have been mapped to different chromosomal locations in the human genome using genetic linkage methods.The cataract-associated genes were classified as four categories,including crystallin gene,membrane protein gene,transcription factor regulatory gene and others,and they induce different phenotypes of cataract by different molecular mechanisms.To understand the disease-causing genes and their mechanism is helpful for the genetic diagnosis and treatment of congenital cataract.The current researching progress in molecular genetics of cataract is summarized in this review.

  4. A Simulation Research of Nonlinear Lowry Model Based on Genetic Algorithm%基于遗传算法的非线性Lowry模型模拟研究

    Institute of Scientific and Technical Information of China (English)

    周彬学; 戴特奇; 梁进社; 张华

    2011-01-01

    Under the principle of genetic algorithm, by using the genetic algorithm toolbox, after proving the applicability of genetic algorithm on a numerical example of 3 zones, 3-section economy of nonlinear Lowry model, the authors use this model to perform a simulated experiment on 9 zones, 3-section economy under a fan-shaped urban framework. The results show that, at first, if the residential charm of every district is at the same degree, traffic factor will play a very important role in residential structure of urban area; secondly, the district at the best traffic location owns the highest population density. Because of the limitation of land and maximization of economic goal, this type of district is the first choice to the industry which have high added value. This article shows a good explanatory ability of nonlinear Lowry model and lays a good foundation for the practical simulated research of urban.%利用遗传算法思想,借助以MATLAB语言为基础的遗传算法工具箱,在验证遗传算法在三区域、三部门模拟运算适用性之后,用非线性Lowry模型对扇形城市空间结构下的九区域、三部门进行模拟实验。结果表明:在各区域居住魅力相同的情况下,交通因素对城市居住空间结构变化起到至关重要的作用;交通区位最好的区域也是人口密度最大的区域,因为用地的有限性和地区产值的最大化追求,使这些区域也是高附加值产业首选之地。研究结果展示了非线性Lowry模型良好的解释能力,为该模型推向具体城市模拟研究打下良好基础,提高了其实用性。

  5. Research Progress of the Genetic Thrombophilia Anticoagulant%遗传性易栓症相关抗凝因子的研究进展

    Institute of Scientific and Technical Information of China (English)

    朱锋

    2013-01-01

    易栓症可定义为血栓形成的倾向性增高,主要由于凝血系统和抗凝血系统两方面因素造成.易栓症分为遗传性易栓症与获得性易栓症.现就遗传性易栓症的相关抗凝因子进行研究,从分子生物学水平上对抗凝血酶Ⅲ(AT-Ⅲ)、蛋白C(PC)、蛋白S(PS)缺陷的病理机制、疾病的诊断及其相应的实验室检查予以综述.同时,结合近年来相关国内外研究报道提出两个观点:①遗传性AT-Ⅲ、PC、PS 缺陷在东西方人群的分布可能存在较大差异;②遗传性易栓症患者中存在联合缺陷.%Thrombophilia can be defined as increased tendency to thrombosis,mainly caused by the coagulation system and anticoagulation system. Thrombophilia is categorized into genetic thrombophilia and acquired thrombophilia. Here is to make a review on genetic thrombophilia factor for anticoagulant-related research, focusing on molecular biology level pathological mechanisms, diagnosis and appropriate laboratory tests of thrombin Ⅲ ( antithrombin Ⅲ, AT- Ⅲ ), and protein C( protein C, PC ), protein S( protein S, PS ) defects. Two points put forward according to recent domestic and foreign studes are: ①Hereditary AT- Ⅲ, PC, PS deficiencies distribution in the east and west population may be quite different; ②patients with hereditary thrombophilia defects have joint defects.

  6. Research on the New Book Recommendation System Based on Genetic Algorithm%基于遗传算法的新书推荐系统研究

    Institute of Scientific and Technical Information of China (English)

    朱婵

    2012-01-01

    New book recommendation is an important content for promoting the individualized service of digital library. In order to design an effective book recommendation system, researchers apply a variety of intelligent algorithms to realize the system. Develops a new recommend method called Genetic Algorithm based new book recommendation (GANBook). In the GANBook algorithm, by using the high efficiency and strong adaptability of genetic algorithm to realize the personalized books recommend. Computer simulation shows that the proposed approach can find the best book recommend combination for the specific readers in a huge number of books quickly and accurately, so as to realize the fast, personalized book recommendation service.%新书推荐是数字图书馆推广个性化服务的重要内容。为设计开发高效、准确的推荐系统。研究人员采用多种智能算法实现图书推荐。基于遗传算法的新书推荐方法(GANBook)利用遗传算法搜索效率高、自适应性强等优点对新书书目进行自动搜索.从而实现个性化图书推荐。仿真实验表明GANBook算法能够快速、准确地在数量庞大的书目中找出适合特定读者的最佳图书推荐组合,从而实现快速、个性化的新书推荐服务。

  7. Research Regarding Genetic Polymorphism on the Main Lactoproteins at Sură de Stepă Breeds

    Directory of Open Access Journals (Sweden)

    Şteofil Creangă

    2010-10-01

    Full Text Available Research was carried out on a number of 30 Sură de Stepă cows raised in semi-intensive stalling at S.C.D.C.B. - Dancu, Iasi. On this nucleus we studied the main lacto-proteins systems and the correlations with milk production indicators. At Sură de Stepă breed were identified alleles for the six loci codifying the six types of major milk proteins (α S1-cz; β-cz; K-cz; β-lg; α-la; α S2-cz. In the system αS1-cz allele s1-Cn B has the greatest frequency (0.700, in the system β-cz allele -Cn A2 (0.550, in the system K-cz allele k-CnA2 (0.583 and heterozygous genotype AB (0.416 respectively BB (0.375, in the system β-lg allele β-lgA1 has the greatest frequency (0.542 and heterozygous genotype AB (0.500, in the system α-la could be found a mono-morphism for allele -la B and similar in the system αS2-cz for allele s2-Cn A. Kappa–casein (K-cz is positive and strongly correlated with fat % respectively protein % (rp = 0.58-0.77, rg = 0.67-0.83, rm = 0.64-0.87.

  8. Research

    African Journals Online (AJOL)

    A sequential mixed-methods research design was chosen. This research ... development of the questionnaire used in the second phase of the survey. Quantitative data ... Microsoft Office Excel 2010 spreadsheet, descriptive data analysis was applied .... undergraduate curriculum, and implementation and evaluation thereof,.

  9. Research

    African Journals Online (AJOL)

    ebutamanya

    2015-03-02

    Mar 2, 2015 ... Shared and mutually beneficial resources within international research ... organizations[1-9]. ... facilitate research career paths, but few career models exist in Africa ..... international and local resources to clinical studies locally. The ability of ... investigators were seen as an important asset for the transfer of.

  10. PS1-31: Assessing the Potential for Research on Genetics of Drug Induced Liver Injury in the HMORN

    Science.gov (United States)

    Pawloski, Pamala; Hedblom, Brita; Hitz, Paul; Owens, Brian; Anderson, Chris; McCarty, Catherine; Yale, Steven; Davis, Robert; Hemmes, Mia; Schmelzer, John

    2011-01-01

    Background/Aims Drug Induced Liver Injury (DILI) is a major cause of liver failure in the US and the leading reason for failure of investigational drugs in clinical trials, lack of drug approval, and post-market withdrawal of approved drugs. Recent genome-wide association studies have identified variations within the major histocompatibility complex in Caucasians to be linked with flucloxacillin and lumiracoxib-related liver injury. The need for replication of these findings and extension of these investigations to other drug exposures and other ethnic groups will require substantial case numbers with supporting medical record documentation. With support from The Serious Adverse Event Consortium, an international consortium led by the pharmaceutical industry in conjunction with the FDA, we conducted a feasibility study to evaluate the potential for using electronic clinical and administrative data from two HMORN sites to identify provisional DILI cases. Methods Building upon previous research, we developed data specifications for electronic searches of ICD-9 codes with time proximate laboratory results indicative of liver-related disease. Electronic criteria were used to ‘rule out’ other liver diseases and other co-morbid conditions indicative of systematic liver-related effects. For feasibility testing, two methods of population identification were incorporated: the VDW and EMR reporting. All records from 1/1/00–8/1/09 that were identified as ‘potential DILI cases’ were reviewed manually, and selected data were abstracted, including suspected implicated drug(s). Results Records for 1,123,173 individuals were screened for potential case status; 29,893 records with one or more diagnoses of interest were identified. After application of the “rule out’ exclusion criteria, 584 potential DILI cases were reviewed and 99 ultimately met provisional case status. Drugs commonly associated with provisional DILI cases were sulfa-containing antibiotics

  11. Foundations of genetic algorithms 1991

    CERN Document Server

    1991-01-01

    Foundations of Genetic Algorithms 1991 (FOGA 1) discusses the theoretical foundations of genetic algorithms (GA) and classifier systems.This book compiles research papers on selection and convergence, coding and representation, problem hardness, deception, classifier system design, variation and recombination, parallelization, and population divergence. Other topics include the non-uniform Walsh-schema transform; spurious correlations and premature convergence in genetic algorithms; and variable default hierarchy separation in a classifier system. The grammar-based genetic algorithm; condition

  12. A Tri-Part Model for Genetics Literacy: Exploring Undergraduate Student Reasoning about Authentic Genetics Dilemmas

    Science.gov (United States)

    Shea, Nicole A.; Duncan, Ravit Golan; Stephenson, Celeste

    2015-01-01

    Genetics literacy is becoming increasingly important as advancements in our application of genetic technologies such as stem cell research, cloning, and genetic screening become more prevalent. Very few studies examine how genetics literacy is applied when reasoning about authentic genetic dilemmas. However, there is evidence that situational…

  13. A Tri-Part Model for Genetics Literacy: Exploring Undergraduate Student Reasoning about Authentic Genetics Dilemmas

    Science.gov (United States)

    Shea, Nicole A.; Duncan, Ravit Golan; Stephenson, Celeste

    2015-01-01

    Genetics literacy is becoming increasingly important as advancements in our application of genetic technologies such as stem cell research, cloning, and genetic screening become more prevalent. Very few studies examine how genetics literacy is applied when reasoning about authentic genetic dilemmas. However, there is evidence that situational…

  14. Research

    African Journals Online (AJOL)

    raoul

    2012-02-17

    Feb 17, 2012 ... This is an Open Access article distributed under the terms of the Creative ..... However, this system has great potential to negatively affect access to ... Dr. Samuel Yaw Opoku: Defining the Concept and Research Design; ...

  15. Research

    African Journals Online (AJOL)

    abp

    2016-04-26

    Apr 26, 2016 ... Management of biomedical waste in two medical laboratories in Bangui, Central ... Research .... Central African Republic Ministry of Health and corresponding ethics ..... In CAR, the management of BW remains embryonic. It is.

  16. Research

    African Journals Online (AJOL)

    ebutamanya

    2015-08-28

    Aug 28, 2015 ... Ethiopia, 2Bahir Dar Regional Health Research Laboratory Center, Department ... of Public Health, 4Institute of Medical Microbiology and Epidemiology of Infectious .... active ingredient x 10,000 dilution rate of product): 0.1%.

  17. Research

    African Journals Online (AJOL)

    raoul

    2011-03-11

    Mar 11, 2011 ... ... to General Organization of Teaching Hospitals and Institutes, Egypt, 2Department of .... Ethiopia at Max-Burger Research Institute, Leipzig, Germany ... [22] than Croatia (50%), Australia (53%), Thailand (41%), Italy (32.6%), ...

  18. Research

    African Journals Online (AJOL)

    7, No. 1 AJHPE. Research. A comprehensive approach to curriculum evaluation is deemed ... While evaluators are guided by the experiences of using different methods, ..... provided a follow-up in-depth exploration of the quantitative results.

  19. Research

    African Journals Online (AJOL)

    ... community in the design, conduct and/or evaluation of these activities. ... During Phase I of the mixed-methods research design, data were collected by ... A questionnaire survey was administered to all students registered for ... Data analysis.

  20. Research

    African Journals Online (AJOL)

    ebutamanya

    2016-02-03

    Feb 3, 2016 ... Published in partnership with the African Field Epidemiology Network (AFENET). (www.afenet.net) .... What is known about this topic ... India Co-ordinated Research Project. Ministry .... African Journal of Biotechnology. 2005 ...

  1. Research

    African Journals Online (AJOL)

    raoul

    2011-12-06

    Dec 6, 2011 ... Asia indicate a high incidence of Kikuchi lymphadenitis [6]. However ... It is believed that information derived from this study will be of immense value to the attending physician and also form a baseline data for future research.

  2. Research

    African Journals Online (AJOL)

    judicious use of current best evidence in making decisions about the care of individual ... [5] This highlights that teaching research methodology is inclined ... to evidence-based practice in final-year undergraduate physiotherapy students.

  3. Research

    African Journals Online (AJOL)

    curricula to address health systems changes and challenges .... Likert scale questions were used, along with open-ended qualitative questions. ... Clear communicator: Able to communicate important aspects of theory, research findings clearly ...

  4. researchers

    African Journals Online (AJOL)

    levels who is fluent in only Afrikaans and English. Differences in race .... The lack of knowledge of a particular vernacular often places a researcher firmly as an ..... discourse of African American women', Black women in the academy. Promises.

  5. Research

    African Journals Online (AJOL)

    2014-05-06

    May 6, 2014 ... Methods. The researchers used an exploratory, sequential mixed-method design, ... This design is useful to explore a topic, using qualitative ... interview a Delphi questionnaire was used to gather additional quantitative.

  6. Research

    African Journals Online (AJOL)

    Research. Clinical teaching is a technique used in the education of nurses. It ... learnt in a contextualised learning environment, which should support them in their ..... development of continuing professional development strategies. This study ...

  7. Research

    African Journals Online (AJOL)

    ebutamanya

    2016-03-03

    Mar 3, 2016 ... radiation therapy [9, 10]. The signs of obstructive ... year's undergraduate medical student: socio-demographic including age (in years), sex. .... awareness and enhance further research in this domain. Conclusion. Patients ...

  8. Research

    Science.gov (United States)

    Mathematics Teaching, 1973

    1973-01-01

    Implications for teachers from Piagetian-oriented piagetian-oriented research on problem solving reported in an article by Eleanor Duckworth are presented. Edward de Bono's Children Solve Problems,'' a collection of examples, is also discussed. (MS)

  9. Research

    African Journals Online (AJOL)

    abp

    2016-04-29

    Apr 29, 2016 ... performance hence workplace training is tied to achieving organizational aims and objectives. .... Ethical consideration: Permission to conduct research was sought from the County ..... Everybody Business: Strengthening.

  10. Use of "Journal of Citation Reports" for Serials Management in Research Libraries: An Investigation of the Effect of Self-Citation on Journal Rankings in Library and Information Science and Genetics.

    Science.gov (United States)

    Nisonger, Thomas E.

    2000-01-01

    Explores the use of "Journal Citation Reports" (JCR) for journal management in academic libraries. Outlines the advantages and disadvantages of using JCR citation data and researches the impact of journal self-citation on JCR rankings of library and information science and genetics journals. (Contains 41 references.) (Author/LRW)

  11. Use of "Journal of Citation Reports" for Serials Management in Research Libraries: An Investigation of the Effect of Self-Citation on Journal Rankings in Library and Information Science and Genetics.

    Science.gov (United States)

    Nisonger, Thomas E.

    2000-01-01

    Explores the use of "Journal Citation Reports" (JCR) for journal management in academic libraries. Outlines the advantages and disadvantages of using JCR citation data and researches the impact of journal self-citation on JCR rankings of library and information science and genetics journals. (Contains 41 references.) (Author/LRW)

  12. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology.

    Science.gov (United States)

    Harper, Joyce C; Geraedts, Joep; Borry, Pascal; Cornel, Martina C; Dondorp, Wybo; Gianaroli, Luca; Harton, Gary; Milachich, Tanya; Kääriäinen, Helena; Liebaers, Inge; Morris, Michael; Sequeiros, Jorge; Sermon, Karen; Shenfield, Françoise; Skirton, Heather; Soini, Sirpa; Spits, Claudia; Veiga, Anna; Vermeesch, Joris Robert; Viville, Stéphane; de Wert, Guido; Macek, Milan

    2013-11-01

    In March 2005, a group of experts from the European Society of Human Genetics and European Society of Human Reproduction and Embryology met to discuss the interface between genetics and assisted reproductive technology (ART), and published an extended background paper, recommendations and two Editorials. Seven years later, in March 2012, a follow-up interdisciplinary workshop was held, involving representatives of both professional societies, including experts from the European Union Eurogentest2 Coordination Action Project. The main goal of this meeting was to discuss developments at the interface between clinical genetics and ARTs. As more genetic causes of reproductive failure are now recognised and an increasing number of patients undergo testing of their genome before conception, either in regular health care or in the context of direct-to-consumer testing, the need for genetic counselling and preimplantation genetic diagnosis (PGD) may increase. Preimplantation genetic screening (PGS) thus far does not have evidence from randomised clinical trials to substantiate that the technique is both effective and efficient. Whole-genome sequencing may create greater challenges both in the technological and interpretational domains, and requires further reflection about the ethics of genetic testing in ART and PGD/PGS. Diagnostic laboratories should be reporting their results according to internationally accepted accreditation standards (International Standards Organisation - ISO 15189). Further studies are needed in order to address issues related to the impact of ART on epigenetic reprogramming of the early embryo. The legal landscape regarding assisted reproduction is evolving but still remains very heterogeneous and often contradictory. The lack of legal harmonisation and uneven access to infertility treatment and PGD/PGS fosters considerable cross-border reproductive care in Europe and beyond. The aim of this paper is to complement previous publications and provide

  13. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policyEuropean Society of Human Genetics and European Society of Human Reproduction and Embryology

    OpenAIRE

    Harper, Joyce C; Geraedts, Joep; Borry, Pascal; Cornel, Martina C.; Dondorp, Wybo; Gianaroli, Luca; Harton, Gary; Milachich, Tanya; Kääriäinen, Helena; Liebaers, Inge; Morris, Michael; Sequeiros, Jorge; Sermon, Karen; Shenfield, Françoise; Skirton, Heather

    2013-01-01

    In March 2005, a group of experts from the European Society of Human Genetics and European Society of Human Reproduction and Embryology met to discuss the interface between genetics and assisted reproductive technology (ART), and published an extended background paper, recommendations and two Editorials. Seven years later, in March 2012, a follow-up interdisciplinary workshop was held, involving representatives of both professional societies, including experts from the European Union Eurogent...

  14. Genetic Disorders

    Science.gov (United States)

    ... This can cause a medical condition called a genetic disorder. You can inherit a gene mutation from ... during your lifetime. There are three types of genetic disorders: Single-gene disorders, where a mutation affects ...

  15. Genetic modification and genetic determinism.

    Science.gov (United States)

    Resnik, David B; Vorhaus, Daniel B

    2006-06-26

    In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions.

  16. THE MEANING OF GENETICS

    Directory of Open Access Journals (Sweden)

    Svenja Adolphs

    2003-05-01

    Full Text Available Research into the public understanding of genetics has greatly expanded lately. At the same time inatters relating to biotechnology have scizcd the public's attention. Corpus linguistics has long asked questions about how meaning is created and changed in the public sphere through language use. However, linking Corpus linguistics to the study of the public understanding of science is something too few have done. To correct this trend, we apply methods from corpus linguistics and cognitive linguistics to study how people talk about genetics. We do so by analysiny the mieaning of words like gene, genes, genetic, genetics, and genetically as found in various spoken and written corpora. Specifically, we examine how they take on certain (e.g. figurative connotations and modulate in context.

  17. Imaging Genetics

    Science.gov (United States)

    Munoz, Karen E.; Hyde, Luke W.; Hariri, Ahmad R.

    2009-01-01

    Imaging genetics is an experimental strategy that integrates molecular genetics and neuroimaging technology to examine biological mechanisms that mediate differences in behavior and the risks for psychiatric disorder. The basic principles in imaging genetics and the development of the field are discussed.

  18. Genetic principles.

    Science.gov (United States)

    Abuelo, D

    1987-01-01

    The author discusses the basic principles of genetics, including the classification of genetic disorders and a consideration of the rules and mechanisms of inheritance. The most common pitfalls in clinical genetic diagnosis are described, with emphasis on the problem of the negative or misleading family history.

  19. Imaging Genetics

    Science.gov (United States)

    Munoz, Karen E.; Hyde, Luke W.; Hariri, Ahmad R.

    2009-01-01

    Imaging genetics is an experimental strategy that integrates molecular genetics and neuroimaging technology to examine biological mechanisms that mediate differences in behavior and the risks for psychiatric disorder. The basic principles in imaging genetics and the development of the field are discussed.

  20. 儿童自闭症的遗传学研究进展%Advance in the Research of Genetics of Autism

    Institute of Scientific and Technical Information of China (English)

    王莹; 黄薇

    2009-01-01

    Autistic disorder is a neurodevelopmental disorder characterized by impairments in communication and social interaction and restricted and repetitive patterns of interest or behavior.Evidence from twin and family studies indieates that the heritability estimates up to 90%.This review aims to introduce the development of autism genetics research and the focus is on the current methods and analysis approaches including cytagenetic,candidate gene,linkage,copy number variation and genome wide association studies.%自闭症是一种以语言发育障碍、社会交往障碍及兴趣范围狭窄、行为刻板为主要特征的神经发育性疾病.通过同胞对和家系研究表明,其遗传度可高达90%.本文对近年来在自闭症遗传学研究方面的进展进行了论述,着重介绍目前的一些研究手段和分析方法,包括细胞遗传学、候选基因、连锁分析、拷贝数变异以及全基因组关联分析等研究.

  1. Brugada综合征致病关联基因突变研究进展%Research progression on genetic mutations associated with Brugada syndrome

    Institute of Scientific and Technical Information of China (English)

    高娟; 白亚娜; 程宁; 胡晓斌

    2011-01-01

    Brugada syndrome is a hereditary disease. 10 genes have been associated with Brugada syndrome, which respectively encodes sodium ion channel, calcium ion channel and potassium ion channel proteins. SCN5A, GPD1L, SCN1B and SCN3B are genes of the sodium ion channel. These genes of CACNA1C, CACNB2, CACNA2D1 encode the protein of calcium ion channel. These genes of HCN4, KCNE3 and KCNH2 encode the protein of potassium ion channel. The research progression on genetic mutations of Brugada syndrome are reviewed.%Brugada综合征是一种遗传性心脏病,目前已发现10种导致Brugada综合征的致病基因,分为编码钠离子通道、钙离子通道和钾离子通道蛋白的基因.编码钠离子通道的基因有SCN5A基因、GPD1L基因、SCN1B基因、SCN3B基因;编码钙离子通道的基因有CACNA1C基因、CACNB2基因、CACNA2D1基因;编码钾离子通道的基因有HCN4基因、KCNE3基因和KCNH2基因.

  2. 抗癫痫药基因多态性研究进展%Research on genetic polymorphism of antiepileptic drugs

    Institute of Scientific and Technical Information of China (English)

    高森

    2014-01-01

    Clinical agrees that drug's gene polymorphism has important meaning for individual differences of antiepileptic drugs, gene polymorphism leads individuals appear different pharmacological and toxicological effects. Pharmacogenetics is a genetics discipline, along with in-depth study of pharmacogenetics, personalized medicine has a new situation. This paper firstly analyzes the types and the effect of antiepileptic drugs, then discusse gene polymorphism on epilepsy medicine clinical research progress.%临床医学上一致认为药物的基因多态性对于抗癫痫药的个体差异有着重要的意义,基因多态性导致个体出现不同的药理和毒理作用。遗传药理学是一门遗传学学科,随着人们对遗传药理学的深入研究,个体化用药有了新的局面。本文首先分析了抗癫痫药的种类及其疗效,然后详细介绍了当前基因多态性对抗癫痫药疗效研究进展。

  3. Ernst Rüdin's Unpublished 1922-1925 Study "Inheritance of Manic-Depressive Insanity": Genetic Research Findings Subordinated to Eugenic Ideology.

    Science.gov (United States)

    Kösters, Gundula; Steinberg, Holger; Kirkby, Kenneth Clifford; Himmerich, Hubertus

    2015-11-01

    In the early 20th century, there were few therapeutic options for mental illness and asylum numbers were rising. This pessimistic outlook favoured the rise of the eugenics movement. Heredity was assumed to be the principal cause of mental illness. Politicians, scientists and clinicians in North America and Europe called for compulsory sterilisation of the mentally ill. Psychiatric genetic research aimed to prove a Mendelian mode of inheritance as a scientific justification for these measures. Ernst Rüdin's seminal 1916 epidemiological study on inheritance of dementia praecox featured large, systematically ascertained samples and statistical analyses. Rüdin's 1922-1925 study on the inheritance of "manic-depressive insanity" was completed in manuscript form, but never published. It failed to prove a pattern of Mendelian inheritance, counter to the tenets of eugenics of which Rüdin was a prominent proponent. It appears he withheld the study from publication, unable to reconcile this contradiction, thus subordinating his carefully derived scientific findings to his ideological preoccupations. Instead, Rüdin continued to promote prevention of assumed hereditary mental illnesses by prohibition of marriage or sterilisation and was influential in the introduction by the National Socialist regime of the 1933 "Law for the Prevention of Hereditarily Diseased Offspring" (Gesetz zur Verhütung erbkranken Nachwuchses).

  4. Automated Assay of Telomere Length Measurement and Informatics for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort

    Science.gov (United States)

    Lapham, Kyle; Kvale, Mark N.; Lin, Jue; Connell, Sheryl; Croen, Lisa A.; Dispensa, Brad P.; Fang, Lynn; Hesselson, Stephanie; Hoffmann, Thomas J.; Iribarren, Carlos; Jorgenson, Eric; Kushi, Lawrence H.; Ludwig, Dana; Matsuguchi, Tetsuya; McGuire, William B.; Miles, Sunita; Quesenberry, Charles P.; Rowell, Sarah; Sadler, Marianne; Sakoda, Lori C.; Smethurst, David; Somkin, Carol P.; Van Den Eeden, Stephen K.; Walter, Lawrence; Whitmer, Rachel A.; Kwok, Pui-Yan; Risch, Neil; Schaefer, Catherine; Blackburn, Elizabeth H.

    2015-01-01

    The Kaiser Permanente Research Program on Genes, Environment, and Health (RPGEH) Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort includes DNA specimens extracted from saliva samples of 110,266 individuals. Because of its relationship to aging, telomere length measurement was considered an important biomarker to develop on these subjects. To assay relative telomere length (TL) on this large cohort over a short time period, we created a novel high throughput robotic system for TL analysis and informatics. Samples were run in triplicate, along with control samples, in a randomized design. As part of quality control, we determined the within-sample variability and employed thresholds for the elimination of outlying measurements. Of 106,902 samples assayed, 105,539 (98.7%) passed all quality control (QC) measures. As expected, TL in general showed a decline with age and a sex difference. While telomeres showed a negative correlation with age up to 75 years, in those older than 75 years, age positively correlated with longer telomeres, indicative of an association of longer telomeres with more years of survival in those older than 75. Furthermore, while females in general had longer telomeres than males, this difference was significant only for those older than age 50. An additional novel finding was that the variance of TL between individuals increased with age. This study establishes reliable assay and analysis methodologies for measurement of TL in large, population-based human studies. The GERA cohort represents the largest currently available such resource, linked to comprehensive electronic health and genotype data for analysis. PMID:26092717

  5. Genotyping Informatics and Quality Control for 100,000 Subjects in the Genetic Epidemiology Research on Adult Health and Aging (GERA) Cohort.

    Science.gov (United States)

    Kvale, Mark N; Hesselson, Stephanie; Hoffmann, Thomas J; Cao, Yang; Chan, David; Connell, Sheryl; Croen, Lisa A; Dispensa, Brad P; Eshragh, Jasmin; Finn, Andrea; Gollub, Jeremy; Iribarren, Carlos; Jorgenson, Eric; Kushi, Lawrence H; Lao, Richard; Lu, Yontao; Ludwig, Dana; Mathauda, Gurpreet K; McGuire, William B; Mei, Gangwu; Miles, Sunita; Mittman, Michael; Patil, Mohini; Quesenberry, Charles P; Ranatunga, Dilrini; Rowell, Sarah; Sadler, Marianne; Sakoda, Lori C; Shapero, Michael; Shen, Ling; Shenoy, Tanu; Smethurst, David; Somkin, Carol P; Van Den Eeden, Stephen K; Walter, Lawrence; Wan, Eunice; Webster, Teresa; Whitmer, Rachel A; Wong, Simon; Zau, Chia; Zhan, Yiping; Schaefer, Catherine; Kwok, Pui-Yan; Risch, Neil

    2015-08-01

    The Kaiser Permanente (KP) Research Program on Genes, Environment and Health (RPGEH), in collaboration with the University of California-San Francisco, undertook genome-wide genotyping of >100,000 subjects that constitute the Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort. The project, which generated >70 billion genotypes, represents the first large-scale use of the Affymetrix Axiom Genotyping Solution. Because genotyping took place over a short 14-month period, creating a near-real-time analysis pipeline for experimental assay quality control and final optimized analyses was critical. Because of the multi-ethnic nature of the cohort, four different ethnic-specific arrays were employed to enhance genome-wide coverage. All assays were performed on DNA extracted from saliva samples. To improve sample call rates and significantly increase genotype concordance, we partitioned the cohort into disjoint packages of plates with similar assay contexts. Using strict QC criteria, the overall genotyping success rate was 103,067 of 109,837 samples assayed (93.8%), with a range of 92.1-95.4% for the four different arrays. Similarly, the SNP genotyping success rate ranged from 98.1 to 99.4% across the four arrays, the variation depending mostly on how many SNPs were included as single copy vs. double copy on a particular array. The high quality and large scale of genotype data created on this cohort, in conjunction with comprehensive longitudinal data from the KP electronic health records of participants, will enable a broad range of highly powered genome-wide association studies on a diversity of traits and conditions.

  6. Research

    African Journals Online (AJOL)

    abp

    2013-02-25

    Feb 25, 2013 ... Of these 56 eyes, the visual acuity in 49 eyes (87.5%) improved with pinhole. Twenty seven pupils had ... (www.afenet.net). Research ... primary basic 1 to 6 and aged 5 to 15 years were included in the study. The United ...

  7. Research

    African Journals Online (AJOL)

    collaboration, but also in less tangible ways affecting quality of research.[5] ... Methods. A 40-hour workshop in biostatistical reasoning was conducted ... test median score was 68% (IQR 62 - 76%), with p<0.0001 for the overall comparison of pre- v. post-scores. ... limitations of a traditional lecture-based mode of instruction.

  8. Research

    African Journals Online (AJOL)

    abp

    2014-03-13

    Mar 13, 2014 ... &Corresponding author: Dr. Oliver Ezechi, Clinical Sciences Division, Nigerian Institute of Medical Research, ... with Hepatitis B and C Virus infection in pregnant HIV positive Nigerians. ... Whether or not HCV directly impacts HIV disease ..... natural history, fibrosis, and impact of antiretroviral treatment:.

  9. Research

    African Journals Online (AJOL)

    understood in the profession, evolved from therapeutic activity (within a medi- cal model ... facilitate students' ability to examine institutional systems that hinder ..... don't have connections with each other … we went to the schools and were told ... for change or conduct action research projects that deal with occupational.

  10. Research

    African Journals Online (AJOL)

    abp

    2015-12-11

    Dec 11, 2015 ... ... Dschang, Cameroon, 2Division of Health Operations Research, Ministry of Public ... This is an Open Access article distributed under the terms of the Creative Commons ... not yet been investigated but may can be explained by weakness of .... Cameroonian market and why not apply for surveillance of.

  11. Research

    African Journals Online (AJOL)

    by teaching them skills on how to acquire and appraise knowledge for a particular ... [3] Similarities have been noted in the roles of lecturers that facilitate learning rather than ..... Student feedback related to facilitators of and barriers to learning. Facilitators of ... 'Sometimes time (clinical, research, social, sport) was limited.'.

  12. Research

    African Journals Online (AJOL)

    raoul

    2011-08-25

    Aug 25, 2011 ... completely replaced animals with computer modeling, manikins and ... distribution, and reproduction in any medium, provided the original ... developed internal guidelines on the use of animals in research in 2004 [13]. ... Only one institution used human cell cultures as a replacement to live animal use.

  13. Research

    African Journals Online (AJOL)

    abp

    2013-08-05

    Aug 5, 2013 ... In 2007, The World Health Organization (WHO) recommended ... are taken nearer to the community through clinical outreach ... Sample size and Sampling procedure ... researchers shared and debated the way each of them understood .... this may involve selling off assets to get the money for transport.

  14. Research

    African Journals Online (AJOL)

    ebutamanya

    2016-04-20

    Apr 20, 2016 ... ... Journal - ISSN 1937-8688. This is an Open Access article distributed under the terms of the Creative ... diabetes mellitus, obesity, family history of premature CHD in a first ... was reviewed and approved by the Hospital's Research and Ethics .... apoptosis of peripheral adipocytes, decreased pre-adipocyte.

  15. Research Status of Genetically Modified Food and Its Safety Assessment%转基因食品及其安全性评价研究现状

    Institute of Scientific and Technical Information of China (English)

    孟书燕

    2015-01-01

    With the development of transgenic technology, there had been a growing number of genetically modified (GM) crops and foods. This review had summarized the present research and development of genetically modified crops, and also analyzed the advantages and disadvantages of the GM crops, so that people would have a preliminary understanding on the GM crops. However, transgenic technology had certain risks, and therefore it’s very important for GM foods to be detected on molecular and protein levels. Based on“substantial equivalence”principles, the GM food safety assessment should be conducted from nutrition, toxicology, allergy aspects and so on, which would bring qualified and assured GM foods to the consumer. Furthermore, the rigorous assessment and monitoring could also promote our transgenic technology and GM foods to develop more rapidly and healthily.%简述了国内外转基因食品作物的研究和发展现状,并分析了转基因食品作物存在的优点和劣势,使人们对转基因食品有初步的了解。由于转基因技术存在一定的风险性,文章指出不仅要对转基因食品进行分子水平和蛋白质水平的检测,而且要依据“实质等同”等原则,从营养学、毒理学和过敏性等方面对其进行严格的食用安全性评价,由此才能给消费者带来合格放心的转基因食品。同时严格的评估和监控也能促进中国转基因技术和转基因食品的健康快速发展。

  16. Genetic modification and genetic determinism

    OpenAIRE

    Vorhaus Daniel B; Resnik David B

    2006-01-01

    Abstract In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound....

  17. Genetics of obesity.

    OpenAIRE

    Martinez, J. A.; Enriquez, L. (Luis); M. J. Moreno-Aliaga; Marti, A.

    2007-01-01

    OBJECTIVE: The aim was to review and update advances in genetics of obesity. DESIGN: Analysis and interpretation of recent investigations about regulating the energy balance as well as about gene-nutrient interactions and current nutri-genomic research methods. BACKGROUND AND MAIN STATEMENTS: Obesity results from a long-term positive energy balance. However, its rising prevalence in developed and developing societies must reflect lifestyle changes, since genetic susceptibility rema...

  18. Session 6: Infant nutrition: future research developments in Europe EARNEST, the early nutrition programming project: EARly Nutrition programming - long-term Efficacy and Safety Trials and integrated epidemiological, genetic, animal, consumer and economic research.

    Science.gov (United States)

    Fewtrell, M S

    2007-08-01

    Increasing evidence from lifetime experimental studies in animals and observational and experimental studies in human subjects suggests that pre- and postnatal nutrition programme long-term health. However, key unanswered questions remain on the extent of early-life programming in contemporary European populations, relevant nutritional exposures, critical time periods, mechanisms and the effectiveness of interventions to prevent or reverse programming effects. The EARly Nutrition programming - long-term Efficacy and Safety Trials and integrated epidemiological, genetic, animal, consumer and economic research (EARNEST) consortium brings together a multi-disciplinary team of scientists from European research institutions in an integrated programme of work that includes experimental studies in human subjects, modern prospective observational studies and mechanistic animal work including physiological studies, cell-culture models and molecular techniques. Theme 1 tests early nutritional programming of disease in human subjects, measuring disease markers in childhood and early adulthood in nineteen randomised controlled trials of nutritional interventions in pregnancy and infancy. Theme 2 examines associations between early nutrition and later outcomes in large modern European population-based prospective studies, with detailed measures of diet in pregnancy and early life. Theme 3 uses animal, cellular and molecular techniques to study lifetime effects of early nutrition. Biomedical studies are complemented by studies of the social and economic importance of programming (themes 4 and 5), and themes encouraging integration, communication, training and wealth creation. The project aims to: help formulate policies on the composition and testing of infant foods; improve the nutritional value of infant formulas; identify interventions to prevent and reverse adverse early nutritional programming. In addition, it has the potential to develop new products through industrial

  19. Research Progress of Food Safety of Genetically Modified Soybeans%转基因大豆的食用安全性研究进展

    Institute of Scientific and Technical Information of China (English)

    路超; 袁建琴; 马艳琴; 赵江河; 史宗勇

    2015-01-01

    In order to deeply understand the edible safety of genetically modified soybean, the development and application status of transgenic crops at home and abroad were introduced. From the three aspects of nutrition, toxicology and allergy, the study summed up the research status of food safety of genetically modified soybean. The authors proposed that the society should uphold a scientific attitude, regard the experiment as a means of research and use data to come to the conclusion. Transform body and lines should be used as the case for the application of safety certificate, and then systematical safety assessment for the transgenic organisms should be carried out. The authors also suggested further strengthening nutrition accumulation of edible-transgenic soybeans, and introducing the research on the effects of gene on metabolic hormone secretion and allergy.%为了更深刻地了解转基因大豆的食用安全性,介绍了国内外转基因作物的发展和种植应用现状.从营养学、毒理学和过敏性3个方面归纳了转基因大豆食用安全性研究现状,提出了应秉着科学的态度,以实验研究为手段,用数据说话,以转化体为安全评价试验的个案,以品系为安全证书申请的个案,对转基因生物进行系统的安全评价.建议进一步加强食用转基因大豆营养积累、引入基因对代谢激素分泌及其对过敏性影响的研究.摘 要:为了更深刻地了解转基因大豆的食用安全性,介绍了国内外转基因作物的发展和种植应用现状.从营养学、毒理学和过敏性3个方面归纳了转基因大豆食用安全性研究现状,提出了应秉着科学的态度,以实验研究为手段,用数据说话,以转化体为安全评价试验的个案,以品系为安全证书申请的个案,对转基因生物进行系统的安全评价.建议进一步加强食用转基因大豆营养积累、引入基因对代谢激素分泌及其对过敏性影响的研究.

  20. Synthetic biology and genetic causation.

    Science.gov (United States)

    Oftedal, Gry; Parkkinen, Veli-Pekka

    2013-06-01

    Synthetic biology research is often described in terms of programming cells through the introduction of synthetic genes. Genetic material is seemingly attributed with a high level of causal responsibility. We discuss genetic causation in synthetic biology and distinguish three gene concepts differing in their assumptions of genetic control. We argue that synthetic biology generally employs a difference-making approach to establishing genetic causes, and that this approach does not commit to a specific notion of genetic program or genetic control. Still, we suggest that a strong program concept of genetic material can be used as a successful heuristic in certain areas of synthetic biology. Its application requires control of causal context, and may stand in need of a modular decomposition of the target system. We relate different modularity concepts to the discussion of genetic causation and point to possible advantages of and important limitations to seeking modularity in synthetic biology systems. Copyright © 2013 Elsevier Ltd. All rights reserved.

  1. 自闭症谱系障碍的分子遗传学研究进展%Molecular genetic research progress in autism spectrum disorders

    Institute of Scientific and Technical Information of China (English)

    王亚亮; 马媛媛; 白雪; 邢万金

    2016-01-01

    自闭症谱系障碍是一种复杂的神经发育障碍性疾病,表现的缺陷有:兴趣爱好受限,重复性的行为;语言和交流障碍;基本丧失参与社会互动能力等。自闭症谱系障碍的病因至今不清,通过对自闭症谱系障碍家族的遗传学研究发现,大约25%患者的患病原因与遗传相关。大约10%~20%的自闭症谱系障碍患者存在染色体重排和罕见的新拷贝数变异,相较而言这类变异在普通人群和未受影响的兄弟姐妹中出现的概率只有1%~2%。大量证据还表明,单核苷酸多态性与自闭症谱系障碍的易感性有关。这些结果与基因组测序数据相结合,有助于鉴定与自闭症谱系障碍相关的基因。总结了近年来自闭症谱系障碍分子遗传方向的研究成果,介绍了与自闭症谱系障碍相关的拷贝数变异、单核苷酸变异以及候选基因等遗传因素,为自闭症谱系障碍的遗传研究提供相关参考。%Autism spectrum disorders ( ASDs) are a complex neurodevelopmental disorder displaying restricted interests , repetitive be-havior, impairments in language and communication , and an inability to engage in social interactions .The causes of the ASDs remain unknown for the majority of individuals with ASD .ASD is among the most heritable disorders .Family studies indicate that up to 25%of cases can be identified as a genetic cause .Chromosomal rearrangements as well as rare and de novo copy-number variants ( CNVs) are present in 10%-20% of individuals with ASD , compared with 1%-2% in the general population and/or unaffected siblings . Evidences show the single-nucleotide polymorphisms (SNPs) seem to contribute to ASD susceptibility.These findings, coupled with genome sequencing data may unveil the genes implicated in ASDs .This paper summarizes the results of molecular genetic research on autism and mainly introduces the genetic risk factors such as CNVs , SNPs and

  2. 肝豆状核变性的遗传学研究进展%Genetic Research Advances of Wilson Disease

    Institute of Scientific and Technical Information of China (English)

    杨华荣; 宋治; 邓昊

    2009-01-01

    Wilson disease (WD) , an autosomal recessive disorder of copper transport, is characterized by excessive accumulation of intracellular copper in liver and extrahepatic tissues because of impaired biliary copper excretion and disturbed incorporation of copper into ceruloplasmin, subsequently presence clinical manifestations such as liver cirrhosis, lenticular degeneration and Kayser-Fleischer comeal rings. Mutations in the ATP7B gene are responsible for WD and more than 515 variants (379 probable disease-causing) have now been reported in patients with WD. The disease is distributed widely in different ethnic and geographical populations.The mutations include missense, nonsense, deletions, insertions, substitutions and splice mutations, etc. Missense mutation His1069GIn in exon 14 is the most common type of mutation in European patients, whereas,missense mutation Arg778Leu in exon 8 is the most frequently observed mutation type in Aisan patients. Gene mutation analysis contributes to accurate and definitive diagnosis, and early treatment. Animal models of genetic defects will help to carry out experimental treatment and elucidate pathological genetic mechanisms of this disease. The known genetic research advances in Wilson's disease are reviewed in this article.%肝豆状核变性(Wilson's disease,WD)是一种铜转运障碍的常染色体隐性遗传病,以胆汁铜排泄及血浆铜蓝蛋白合成障碍而导致肝和肝外组织铜的过度蓄积为特征,进而出现肝硬化、豆状核变性和角膜的K-F环等一系列异常临床表现.WD是由ATP7B基因突变引起的,基因变异超过515种(至少379种可能为致病突变),广泛分布不同人种和地域,包括错义突变、无义突变、缺失突变、插入突变、置换突变和剪接突变等.其中最常见的突变类型欧洲患者为14号外显子His1069Gln错义突变,亚洲患者为位于8号外显子的Arg778Leu错义突变.基因突变分析有利于准确诊断及早期治疗,遗传

  3. TRANSLATING ECOLOGY, PHYSIOLOGY, BIOCHEMISTRY, AND POPULATION GENETICS RESEARCH TO MEET THE CHALLENGE OF TICK AND TICK-BORNE DISEASES IN NORTH AMERICA.

    Science.gov (United States)

    Esteve-Gassent, Maria D; Castro-Arellano, Ivan; Feria-Arroyo, Teresa P; Patino, Ramiro; Li, Andrew Y; Medina, Raul F; de León, Adalberto A Pérez; Rodríguez-Vivas, Roger Iván

    2016-05-01

    Emerging and re-emerging tick-borne diseases threaten public health and the wellbeing of domestic animals and wildlife globally. The adoption of an evolutionary ecology framework aimed to diminish the impact of tick-borne diseases needs to be part of strategies to protect human and animal populations. We present a review of current knowledge on the adaptation of ticks to their environment, and the impact that global change could have on their geographic distribution in North America. Environmental pressures will affect tick population genetics by selecting genotypes able to withstand new and changing environments and by altering the connectivity and isolation of several tick populations. Research in these areas is particularly lacking in the southern United States and most of Mexico with knowledge gaps on the ecology of these diseases, including a void in the identity of reservoir hosts for several tick-borne pathogens. Additionally, the way in which anthropogenic changes to landscapes may influence tick-borne disease ecology remains to be fully understood. Enhanced knowledge in these areas is needed in order to implement effective and sustainable integrated tick management strategies. We propose to refocus ecology studies with emphasis on metacommunity-based approaches to enable a holistic perspective addressing whole pathogen and host assemblages. Network analyses could be used to develop mechanistic models involving multihost-pathogen communities. An increase in our understanding of the ecology of tick-borne diseases across their geographic distribution will aid in the design of effective area-wide tick control strategies aimed to diminish the burden of pathogens transmitted by ticks. © 2016 Wiley Periodicals, Inc.

  4. Research progress for fragmentation, spatial genetic structure of clonal plant%克隆植物的裂断、空间遗传结构的研究进展

    Institute of Scientific and Technical Information of China (English)

    滕小华; 洪锐民; 乌云娜

    2011-01-01

    Fragmentation of clonal plants is reputed as pervasive functional behavior in plant kingdom that can cause the growth,reproduction and spreading of clonal plant. The paper discussed fragmentation phenomenon, fragmentation behavior, fragmentation fate, genetic variation, and spatial genetics of clonal plant, and introduced clonal architecture, cloning structure, genetic structure, and spatial genetic structure of divisional clone fragmented, observed meaning and foreground of fragmentation studying, divisional clone fragmented, clonal architecture, and genetic evolution in depth. In addition, the paper had made the forecast to fragmentation fate research.%植物克隆分株集群的裂断是植物界普遍存在的功能行为,裂断可以引发克隆植物生长、繁殖和散布.文章论述了克隆植物裂断现象、裂断行为、裂断命运、遗传变异和空间遗传的研究,介绍了裂断分克隆的克隆构型、克隆结构、遗传结构以及空间遗传结构,较深入地评述了研究裂断、裂断分克隆、克隆构型和遗传演化的意义及其前景,并对裂断命运研究作了展望.

  5. Genetic barcodes

    Energy Technology Data Exchange (ETDEWEB)

    Weier, Heinz -Ulrich G

    2015-08-04

    Herein are described multicolor FISH probe sets termed "genetic barcodes" targeting several cancer or disease-related loci to assess gene rearrangements and copy number changes in tumor cells. Two, three or more different fluorophores are used to detect the genetic barcode sections thus permitting unique labeling and multilocus analysis in individual cell nuclei. Gene specific barcodes can be generated and combined to provide both numerical and structural genetic information for these and other pertinent disease associated genes.

  6. Genetic Influences on Adolescent Eating Habits

    Science.gov (United States)

    Beaver, Kevin M.; Flores, Tori; Boutwell, Brian B.; Gibson, Chris L.

    2012-01-01

    Behavioral genetic research shows that variation in eating habits and food consumption is due to genetic and environmental factors. The current study extends this line of research by examining the genetic contribution to adolescent eating habits. Analysis of sibling pairs drawn from the National Longitudinal Study of Adolescent Health (Add Health)…

  7. Archaeal extrachromosomal genetic elements

    DEFF Research Database (Denmark)

    Wang, Haina; Peng, Nan; Shah, Shiraz Ali

    2015-01-01

    SUMMARY: Research on archaeal extrachromosomal genetic elements (ECEs) has progressed rapidly in the past decade. To date, over 60 archaeal viruses and 60 plasmids have been isolated. These archaeal viruses exhibit an exceptional diversity in morphology, with a wide array of shapes, such as spind......SUMMARY: Research on archaeal extrachromosomal genetic elements (ECEs) has progressed rapidly in the past decade. To date, over 60 archaeal viruses and 60 plasmids have been isolated. These archaeal viruses exhibit an exceptional diversity in morphology, with a wide array of shapes...

  8. Genetic secrets: Protecting privacy and confidentiality in the genetic era

    Energy Technology Data Exchange (ETDEWEB)

    Rothstein, M.A. [ed.

    1998-07-01

    Few developments are likely to affect human beings more profoundly in the long run than the discoveries resulting from advances in modern genetics. Although the developments in genetic technology promise to provide many additional benefits, their application to genetic screening poses ethical, social, and legal questions, many of which are rooted in issues of privacy and confidentiality. The ethical, practical, and legal ramifications of these and related questions are explored in depth. The broad range of topics includes: the privacy and confidentiality of genetic information; the challenges to privacy and confidentiality that may be projected to result from the emerging genetic technologies; the role of informed consent in protecting the confidentiality of genetic information in the clinical setting; the potential uses of genetic information by third parties; the implications of changes in the health care delivery system for privacy and confidentiality; relevant national and international developments in public policies, professional standards, and laws; recommendations; and the identification of research needs.

  9. Genetic modification and genetic determinism

    Directory of Open Access Journals (Sweden)

    Vorhaus Daniel B

    2006-06-01

    Full Text Available Abstract In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions.

  10. Genetics and delusional disorder.

    Science.gov (United States)

    Cardno, Alastair G; McGuffin, Peter

    2006-01-01

    This article gives an overview of genetic research approaches and their application to delusional disorder. Most studies have been based on small samples and have had other methodological limitations, so it is not clear whether there is a genetic contribution to the aetiology of delusional disorder. It is unlikely that delusional disorder is strongly related genetically to affective disorder or schizophrenia, but more subtle relationships cannot be ruled out. The rarity of multiply affected families prohibits linkage studies and, to date, molecular genetic investigations have been mainly limited to small association studies of dopamine receptor polymorphisms. A range of considerably larger, epidemiologically rigorous studies is required, but the uncommonness and other features of the disorder put strong limitations on the prospects for ascertaining adequate samples.

  11. Genetic Testing: MedlinePlus Health Topic

    Science.gov (United States)

    ... Glitches (National Institutes of Health) Genetic Mapping (National Human Genome Research Institute) Also in Spanish Clinical Trials ClinicalTrials.gov: Genetic Testing (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National ...

  12. Genetic Engineering

    Science.gov (United States)

    Phillips, John

    1973-01-01

    Presents a review of genetic engineering, in which the genotypes of plants and animals (including human genotypes) may be manipulated for the benefit of the human species. Discusses associated problems and solutions and provides an extensive bibliography of literature relating to genetic engineering. (JR)

  13. Genetic Counseling

    Science.gov (United States)

    ... for certain types of genetic conditions (such as Down syndrome) in the baby if mother-to-be is 35 years of age or more, or is concerned at any age about her chances of having a child with a genetic condition To learn about the ...

  14. The FTO gene is associated with an atherogenic lipid profile and myocardial infarction in patients with type 2 diabetes:A Genetics of Diabetes Audit and Research Study in Tayside Scotland (Go-DARTS) Study

    OpenAIRE

    2009-01-01

    Background-Common variation in the fat mass and obesity (FTO)-related gene is associated with increased body fat and susceptibility to type 2 diabetes. We hypothesized that this would also associate with metabolic phenotypes of insulin resistance and increased risk of cardiovascular morbidity and mortality. Methods and Results-FTO rs9939609 genotype was determined in 4897 patients with type 2 diabetes in the prospective Genetics of Diabetes Audit and Research Study in Tayside Scotland study. ...

  15. Genetics of bipolar disorder

    Directory of Open Access Journals (Sweden)

    Kerner B

    2014-02-01

    Full Text Available Berit Kerner Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, Los Angeles, CA, USA Abstract: Bipolar disorder is a common, complex genetic disorder, but the mode of transmission remains to be discovered. Many researchers assume that common genomic variants carry some risk for manifesting the disease. The research community has celebrated the first genome-wide significant associations between common single nucleotide polymorphisms (SNPs and bipolar disorder. Currently, attempts are under way to translate these findings into clinical practice, genetic counseling, and predictive testing. However, some experts remain cautious. After all, common variants explain only a very small percentage of the genetic risk, and functional consequences of the discovered SNPs are inconclusive. Furthermore, the associated SNPs are not disease specific, and the majority of individuals with a “risk” allele are healthy. On the other hand, population-based genome-wide studies in psychiatric disorders have rediscovered rare structural variants and mutations in genes, which were previously known to cause genetic syndromes and monogenic Mendelian disorders. In many Mendelian syndromes, psychiatric symptoms are prevalent. Although these conditions do not fit the classic description of any specific psychiatric disorder, they often show nonspecific psychiatric symptoms that cross diagnostic boundaries, including intellectual disability, behavioral abnormalities, mood disorders, anxiety disorders, attention deficit, impulse control deficit, and psychosis. Although testing for chromosomal disorders and monogenic Mendelian disorders is well established, testing for common variants is still controversial. The standard concept of genetic testing includes at least three broad criteria that need to be fulfilled before new genetic tests should be introduced: analytical validity, clinical validity, and clinical utility. These criteria are

  16. Genetic Romanticism

    DEFF Research Database (Denmark)

    Tupasela, Aaro

    2016-01-01

    . This article compares and contrasts the work of two doctors in Finland, Elias Lönnrot and Reijo Norio, working over a century and a half apart, to examine the ways in which they have contributed to the formation of national identity and unity. The notion of genetic romanticism is introduced as a term...... to complement the notion of national romanticism that has been used to describe the ways in which nineteenth-century scholars sought to create and deploy common traditions for national-romantic purposes. Unlike national romanticism, however, strategies of genetic romanticism rely on the study of genetic...... inheritance as a way to unify populations within politically and geographically bounded areas. Thus, new genetics have contributed to the development of genetic romanticisms, whereby populations (human, plant, and animal) can be delineated and mobilized through scientific and medical practices to represent...

  17. Genetic overlap among intelligence and other candidate endophenotypes for schizophrenia

    NARCIS (Netherlands)

    Aukes, Maartje F; Alizadeh, Behrooz Z; Sitskoorn, Margriet M; Kemner, Chantal; Ophoff, Roel A; Kahn, René S

    2009-01-01

    BACKGROUND: A strategy to improve genetic studies of schizophrenia involves the use of endophenotypes. Information on overlapping genetic contributions among endophenotypes may provide additional power, reveal biological pathways, and have practical implications for genetic research. Several cogniti

  18. Shift of Ethical Research in Industrialization in Genetically Modified Crops%转基因作物产业化伦理学研究的转向

    Institute of Scientific and Technical Information of China (English)

    毛新志; 罗圆萍

    2012-01-01

    转基因作物产业化的实质伦理主要是研究转基因作物产业化是否应该做,而程序伦理重在研究转基因作物产业化应该如何做。在当前的境遇下,转基因作物产业化的伦理学研究应该由实质伦理转向程序伦理,这种转向有其理论合理性和现实合理性。建立以伦理治理为核心的程序伦理,包括明确转基因作物产业化伦理治理的主体,研究转基因作物产业化伦理治理的依据,确立转基因作物产业化伦理治理的主要内容。建立转基因作物产业化伦理治理的商谈伦理机制,对转基因作物的产业化进行科学和有效决策,规范管理,使其为人类带来更多的福祉。%Substantial ethics in industrialization of genetically modified crops (GMC) is to study whether it should do or not, while procedural ethics is to study how it should do. In the current situation, ethical research in industrialization of GMC should be shifted from substantial ethics to procedural ethics, and this shift has its theoretical rationality and practical rationality. We should establish procedural ethics on basis of ethical governance, such as clearing the subjects of ethical governance in industrialization of GMC, studying foundations of it, establishing main contents of it, and building mechanism of discourse ethics of it , which contributes to scientific and effective decision-making, and stand-ardized management in it, and which brings more well-being to human.

  19. 转基因食品安全管理技术研究和发展%Research and development on management of trans-genetic food

    Institute of Scientific and Technical Information of China (English)

    赵建春; 张鹏

    2013-01-01

    The nutrition and diversity make the trans-genetic food taking a rapid development, but its safety has been widespread concerned. This article gives a simple introduction on trans-genetic food, summarizes the status of the world trans-genetic food safety management, analyzes the importance of genetically modified food safety management, and put forward some feasible suggestions to further improve transgenic food safety management. Hope our government can formulate relevant policies to provide reliable protection for the healthy development of genetically modified foods, human health and environmental safety.%转基因食品的营养性和多样性使其得到了快速的发展,其安全性也得到了人们的广泛关注.文章概述世界转基因食品安全管理的现状,分析转基因食品安全管理的重要性,并对进一步完善中国转基因食品安全管理提出一些可行性建议.希望中国能制定相关的政策,为转基因食品的健康发展、人类的健康和环境安全提供可靠的保障.

  20. The Research about Genetically Modified Product Identification in China%我国转基因产品标识问题研究

    Institute of Scientific and Technical Information of China (English)

    郭彩玲

    2013-01-01

    Among the many laws of genetically modified food ,whether genetically modified food is identified reflects a country's attitude toward genetically modified (gm ) food ,and affects a country's political and economic development as well . Many scholars have studied whether genetically modified food need to be identified .This Article summarizes the scholars'study to safeguard national food supply and food security ,to minimise the risk as much as possible ,and then design a range of geneti-cally modified food labeling system that is suitable to our national condition .%在规范转基因产品的众多法律制度当中,转基因产品是否进行标识,既体现着一国对转基因产品的态度,也影响着一国政治经济的发展。总结各国学者对转基因产品标识的研究,着眼于保障国家粮食供应和粮食安全,尽可能将转基因产品的风险最小化。设计适合我国国情的转基因产品标识制度,并用法律制度对其进行规制,成为我国目前面临的重要问题之一。

  1. Quantitative genetic studies of antisocial behaviour.

    Science.gov (United States)

    Viding, Essi; Larsson, Henrik; Jones, Alice P

    2008-08-12

    This paper will broadly review the currently available twin and adoption data on antisocial behaviour (AB). It is argued that quantitative genetic research can make a significant contribution to further the understanding of how AB develops. Genetically informative study designs are particularly useful for investigating several important questions such as whether: the heritability estimates vary as a function of assessment method or gender; the relative importance of genetic and environmental influences varies for different types of AB; the environmental risk factors are truly environmental; and genetic vulnerability influences susceptibility to environmental risk. While the current data are not yet directly translatable for prevention and treatment programmes, quantitative genetic research has concrete translational potential. Quantitative genetic research can supplement neuroscience research in informing about different subtypes of AB, such as AB coupled with callous-unemotional traits. Quantitative genetic research is also important in advancing the understanding of the mechanisms by which environmental risk operates.

  2. Pitfalls in genetic testing

    DEFF Research Database (Denmark)

    Djémié, Tania; Weckhuysen, Sarah; von Spiczak, Sarah

    2016-01-01

    BACKGROUND: Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying...

  3. The genetics of obesity.

    Science.gov (United States)

    All definitions of the metabolic syndrome include some form of obesity as one of the possible features. Body mass index (BMI) has a known genetic component, currently estimated to account for about 70% of the population variance in weight status for non-syndromal obesity. Much research effort has be...

  4. Genetics Home Reference: phenylketonuria

    Science.gov (United States)

    ... musty or mouse-like odor as a side effect of excess phenylalanine in the body. Children with classic PKU tend to have lighter skin ... Success (GEMSS) MalaCards: phenylketonuria March of Dimes Montreal Children's ... Technology, and Research in Genetics Swedish Information Center for ...

  5. Genetics and immunology: reinvigorated

    Science.gov (United States)

    Snyder, Alexandra; Makarov, Vladimir; Hellmann, Matthew; Rizvi, Naiyer; Merghoub, Taha; Wolchok, Jedd D; Chan, Timothy A

    2015-01-01

    Immune checkpoint blockade therapy is changing oncology by improving the outcome of patients with advanced malignancies. Our research has revealed the genetic features of tumors present in patients who initiate a successful antitumor immune response and derive clinical benefit from immune checkpoint blockade therapy versus non-responders. PMID:26451299

  6. Research on the traceability of genetically modified cotton and its derived products%转基因棉花及其加工产品溯源研究

    Institute of Scientific and Technical Information of China (English)

    潘良文; 王醒宇; 袭祝东; 朱清樾; 丁卓平

    2014-01-01

    In this paper,the bar codes especially for the genetically modified cotton,cotton see d oil and cotton seed meal were designed and encoded in accordance with the UCC/EAN-128 Code Encoding Rules. The UCC/EAN-128 bar codes herein were worked out on the basis of the information collected from five key links which are planting,processing,transportation,storing and selling. And according to the administration rule on the Identification Measures for Agricultural Genetically Modified Organisms, the genetically modified products should be identified as genetically modified organisms on their labels. The combination of the UCC/EAN-128 bar code with the label identification will result in an effective traceability for the genetically modified organisms. This study also provides the technical support for the administration and supervision on genetically modified organisms.%该文根据UCC/EAN-128码的编码规则,针对转基因籽棉种植、加工、运输、仓储、销售等5个主要环节进行信息收集,对转基因棉花、棉籽油、棉籽粕进行了UCC/EAN-128码的设计与编码。根据《农业转基因生物标识管理办法》的规定,在转基因产品标签上进行标识。将UCC/EAN-128码和转基因产品标识相结合,可对转基因农产品进行溯源,从而为转基因产品管理提供技术支撑。

  7. 中华人民共和国畜禽遗传资源进出境和对外合作研究利用审批办法%Measures of the People's Republic of China for The Examination and Approval of the Entry and Exit As Well As Foreign-Related Cooperative Research and Utilization of Livestock and Poultry Genetic Resources

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    @@ Article 1 For the purpose of strengthening the administration of the entry and exit as well as foreign-related cooperative research and utilization of livestock and poultry genetic resources,protecting and reasonably utilizmg livestock andpoultry genetic resources,preventing livestock and poultry genetic resources from draining off,and promoting sustained and sound development of stockbreeding.the Measures are hereby formulated in accordance with the Stock-Breeding Law of the People's Republic of China.

  8. Genetic Breakthrough

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    A new calf breeding technique shows promise for treating malignant tumors Chinese scientists have successfully bred a genetically altered cow capable of producing cancer-curing proteins for human beings.

  9. Genetics and educational psychology.

    Science.gov (United States)

    Plomin, Robert; Walker, Sheila O

    2003-03-01

    Molecular genetics, one of the most energetic and exciting areas of science, is slowly but surely coming to educational psychology. We review recent molecular genetic research on learning disabilities as a sign of things to come in educational psychology. We also consider some misconceptions about genetics that have slowed the acceptance of genetics in educational psychology. Diverse samples of children with learning disabilities have been studied, primarily in the UK and the USA. Linkage analysis can detect genes that have large effects on learning disabilities. Association analysis can detect genes of much smaller effect size, which is important because common disorders such as learning disabilities are likely to be influenced by many genes as well as by many environmental factors. For reading disability, replicated linkages have been identified on chromosomes 6, 15 and 18. A gene responsible for a rare type of language impairment has recently been identified. For common language impairment, linkages on chromosomes 16 and 19 have recently been reported. More than 200 genetic disorders, most extremely rare, include mental retardation among their symptoms, and chromosomal abnormalities are a major cause of mental retardation. Although finding specific genes associated with learning disabilities is unlikely to have much of a direct application for teachers in the classroom, such findings will have far-reaching implications for diagnosis, treatment and prevention of learning disabilities and for research in educational psychology. Educational psychology has been slower to accept evidence for the importance of genetics than other areas of psychology in part because of misconceptions about what it means to say that genetics is important for common complex disorders such as learning disabilities.

  10. Genetically Modified Food in Perspective: An Inquiry-Based Curriculum to Help Middle School Students Make Sense of Tradeoffs. Research Report

    Science.gov (United States)

    Seethaler, Sherry; Linn, Marcia

    2004-01-01

    To understand how students learn about science controversy, this study examines students' reasoning about tradeoffs in the context of a technology-enhanced curriculum about genetically modified food. The curriculum was designed and refined based on the Scaffolded Knowledge Integration Framework to help students sort and integrate their initial…

  11. Transgenic Primate Research Paves the Path to a Better Animal Model: Are We a Step Closer to Curing Inherited Human Genetic Disorders?

    Institute of Scientific and Technical Information of China (English)

    Anthony W.S. Chan

    2009-01-01

    While the advancement of transgenic primate models has led to a new era in modeling human conditions and has a clear impact on elucidating the mechanism of human genetic diseases, some thoughts should be considered if non-human primates are the appropriate model.

  12. Genetically Modified Food in Perspective: An Inquiry-Based Curriculum to Help Middle School Students Make Sense of Tradeoffs. Research Report

    Science.gov (United States)

    Seethaler, Sherry; Linn, Marcia

    2004-01-01

    To understand how students learn about science controversy, this study examines students' reasoning about tradeoffs in the context of a technology-enhanced curriculum about genetically modified food. The curriculum was designed and refined based on the Scaffolded Knowledge Integration Framework to help students sort and integrate their initial…

  13. Mitochondrial genetics

    OpenAIRE

    Chinnery, Patrick Francis; Hudson, Gavin

    2013-01-01

    Introduction In the last 10 years the field of mitochondrial genetics has widened, shifting the focus from rare sporadic, metabolic disease to the effects of mitochondrial DNA (mtDNA) variation in a growing spectrum of human disease. The aim of this review is to guide the reader through some key concepts regarding mitochondria before introducing both classic and emerging mitochondrial disorders. Sources of data In this article, a review of the current mitochondrial genetics literature was con...

  14. Research Progress on the Influencing Factors of Agrobacterium-mediated Genetic Transformation of Cannabis sativa L.%农杆菌介导的汉麻遗传转化影响因素的研究进展

    Institute of Scientific and Technical Information of China (English)

    赵越; 魏国江; 潘冬梅; 韩承伟; 韩喜财; 徐磊

    2015-01-01

    Genetic transformation technology is the basis to develop new hemp varieties and study functional ge‐nomics .The efficiency of A grobacterium‐mediated Cannabis sativa L .genetic transformation was effected by genotype ,explant size ,agrobacterium strains ,pretreatment time ,infection time ,co‐culture time ,antioxidants ,a‐cetyl clove ketone and so on .These influencing factors and the research progress were analyzed and summa‐rized ,so as to provide the scientific basis for promoting Cannabis sativa L .genetic transformation research .%遗传转化技术是培育汉麻新品种和进行功能基因组学研究的基础,采用农杆菌介导法对汉麻进行遗传转化,汉麻的基因型、外植体大小、农杆菌菌株、预处理时间、侵染时间、共培养时间、抗氧化剂、乙酰丁香酮等都会对遗传转化效率产生影响。分析并概括了这些影响因素及其研究进展情况,为促进汉麻农杆菌介导的遗传转化研究提供科学依据。

  15. Advance in molecular genetic research on primary congenital glaucoma%原发性先天性青光眼的分子遗传学研究进展

    Institute of Scientific and Technical Information of China (English)

    李秀兰; 刘昊天; 张丁丁

    2016-01-01

    Primary congenital glaucoma (PCG) is one of the major diseases causing blindness in children,but its pathogenesis has remained unclear.Genetic factors play an important role in the pathogenesis of PCG.Molecular genetics of candidate genes such as CYP1B1,MYOC,LTBP2 and FOXC1 has so far been explored,but no disease-causing gene has been identified.Molecular genetic research on PCG including candidate gene screening and research strategies are reviewed here.%原发性先天性青光眼(primary congenital glaucoma,PCG)是儿童致盲的主要疾病之一,其发病机制尚不清楚.遗传因素在PCG的发病中起重要作用.应用分子遗传学方法对PCG的相关基因CYP1B1、MYOC、LTBP2及FOXC1等进行了研究,但尚未发现确切的致病基因.现对PCG的研究技术以及相关基因的筛查作一综述.

  16. Desafíos éticos de la manipulación genética y la investigación con animales Ethical challenges of genetic manipulation and research with animals

    Directory of Open Access Journals (Sweden)

    Eduardo Rodríguez Yunta

    2012-12-01

    Full Text Available En la investigación con animales existen cuestionamientos éticos tanto en su uso como modelos de enfermedades humanas y el ser requisito previo para ensayos en humanos, como en la introducción de modificaciones genéticas. Algunos de estos cuestionamientos se refieren a que no representan completamente la condición humana como modelo; que realizar pruebas de toxicidad causan grave daño a los animales; que se altera su naturaleza mediante modificaciones genéticas y el riesgo de introducir organismos genéticamente modificados. El uso de animales en investigación para beneficio humano impone la responsabilidad moral de respetarlo, no haciéndoles sufrir innecesariamente, puesto que se está trabajando con seres vivos con capacidad de sentir.Research with animals presents ethical questions both for being used as models of human diseases and for being a prerequisite for trials in humans, as in the introduction of genetic modifications. Some of these questions refer to the fact that, as models, they do not fully represent the human condition; that conducting toxicity tests causes great harm to animals; that their nature is altered by genetic modifications and that introducing genetically modified organisms is a risk. The use of animals in research for the benefit of humans imposes the moral responsibility to respect them, not making them suffer unnecessarily, since they are living beings capable of feeling.

  17. Genetics of schizophrenia: recent advances.

    Science.gov (United States)

    Eisener, Amy; Pato, Michele T; Medeiros, Helena; Carvalho, Celia; Pato, Carlos N

    2007-01-01

    Genetic studies of schizophrenia have been fraught with challenges, yet molecular genetic and genomic methods remain essential to the discovery of the underlying biological mechanisms. Candidate genes and genome scan studies have played a significant role in the search for susceptibility loci. Studies in genetic isolates appear to be providing some of the most consistent results. These populations are characterized by a greater degree of homogeneity, which is hoped to be advantageous in the identification of genes contributing to the disease phenotype. The following review highlights some recent advances in schizophrenia research, with a focus on disease etiology, candidate genes, genome scan studies, and molecular genetic approaches.

  18. Genetics Home Reference: Parkinson disease

    Science.gov (United States)

    ... on Aging National Institutes of Neurological Disorders and Stroke: Parkinson's Disease Research Web Educational Resources (9 links) Centre for Genetics Education (Australia) Disease InfoSearch: Parkinson Disease MalaCards: lrrk2- ...

  19. Consortium on the Genetics of Schizophrenia (COGS) assessment of endophenotypes for schizophrenia: an introduction to this Special Issue of Schizophrenia Research.

    Science.gov (United States)

    Swerdlow, Neal R; Gur, Raquel E; Braff, David L

    2015-04-01

    The COGS is a multi-site NIMH-sponsored investigation of the genetic basis of 12 primary and multiple secondary quantitative endophenotypes in schizophrenia. Since 2003, COGS has completed studies using a family-based ascertainment strategy (COGS-1), and a case-control ascertainment strategy (COGS-2) (cumulative "n">4000). COGS-1 family study confirmed robust deficits in, and heritability of, these endophenotypes in schizophrenia, and provided evidence for a coherent genetic architecture underlying the risk for neurocognitive and neurophysiological deficits in this disorder. COGS-2 case-control findings, many reported herein, establish a foundation for fine genomic mapping and other analyses of these endophenotypes and risk genes for SZ. Several reports in this Special Issue compare findings of endophenotype deficits generated by fundamentally different COGS-1 vs. COGS-2 ascertainment strategies. Despite the expectation that family-based and case-control designs would establish demographically and potentially biologically distinct patient cohorts, findings generally revealed comparable patterns of endophenotype deficits across studies. The COGS-2 case-control design facilitated the accrual of a larger "n", permitting detailed analyses of factors moderating endophenotype performance. Some COGS-2 endophenotypes not assessed in COGS-1 are also reported, as is a new factor analytic strategy for identifying shared vs. unique factors among the COGS endophenotypes which can be used to develop composite variables with distinct genetic signatures. The path to date of COGS-1 endophenotype and genetic findings, followed by replication and extension in COGS-2, establishes benchmarks for endophenotype deficits in SZ and their moderation by specific factors, and clear expectations for informative findings from upcoming COGS-2 genetic analyses. Published by Elsevier B.V.

  20. Genetic craniofacial aberrations.

    Science.gov (United States)

    Pirinen, S

    1998-12-01

    Many craniofacial and dental anomalies have a genetic background. Much research related to the molecular pathology of genetic conditions is being carried out, and new information related to mapping of disease genes, gene identification, and mutations in these genes is accumulating with incredible speed. It is important to be well informed of the molecular background of the conditions that we treat at anomaly clinics. This article reviews the most recent molecular findings related to Turner syndrome, Beckwith-Wiedemann syndrome, Marfan syndrome, Treacher Collins syndrome, cleidocranial dysplasia, and cleft lip and palate.

  1. [Genetic aspects of schizophrenia].

    Science.gov (United States)

    Morozova, A Yu; Zubkov, E A; Zorkina, Ya A; Reznik, A M; Kostyuk, G P; Chekhonin, V P

    Schizophrenia is a disease with a complex non-Mendelian inheritance mechanism in most cases involving the combined action of a large number of genes. Identifying of genomic variations associated with schizophrenia endophenotypes has a great potential. This review describes genetic markers of the disease, current methods of their analysis, including genome-wide association study (GWAS). Certain genes with mutations that increase the risk of schizophrenia are described. Functional polymorphisms with phenotypic expression, which are significantly associated with clinical manifestation of schizophrenia, can serve as useful genetic markers. The authors highlight that currently there are no certain susceptibility genes. Further global research and search for markers in different population groups are needed.

  2. Pitfalls in genetic testing

    DEFF Research Database (Denmark)

    Djémié, Tania; Weckhuysen, Sarah; von Spiczak, Sarah;

    2016-01-01

    BACKGROUND: Sanger sequencing, still the standard technique for genetic testing in most diagnostic laboratories and until recently widely used in research, is gradually being complemented by next-generation sequencing (NGS). No single mutation detection technique is however perfect in identifying...... mutations. METHODS: We sent out a survey to 16 genetic centers performing SCN1A testing. RESULTS: We collected data on 28 mutations initially missed using Sanger sequencing. All patients were falsely reported as SCN1A mutation-negative, both due to technical limitations and human errors. CONCLUSION: We...

  3. Imaging-Genetics Applications in Child Psychiatry

    Science.gov (United States)

    Pine, Daniel S.; Ernst, Monique; Leibenluft, Ellen

    2010-01-01

    Objective: To place imaging-genetics research in the context of child psychiatry. Method: A conceptual overview is provided, followed by discussion of specific research examples. Results: Imaging-genetics research is described linking brain function to two specific genes, for the serotonin-reuptake-transporter protein and a monoamine oxidase…

  4. Integrating genetics and social science: genetic risk scores.

    Science.gov (United States)

    Belsky, Daniel W; Israel, Salomon

    2014-01-01

    The sequencing of the human genome and the advent of low-cost genome-wide assays that generate millions of observations of individual genomes in a matter of hours constitute a disruptive innovation for social science. Many public use social science datasets have or will soon add genome-wide genetic data. With these new data come technical challenges, but also new possibilities. Among these, the lowest-hanging fruit and the most potentially disruptive to existing research programs is the ability to measure previously invisible contours of health and disease risk within populations. In this article, we outline why now is the time for social scientists to bring genetics into their research programs. We discuss how to select genetic variants to study. We explain how the polygenic architecture of complex traits and the low penetrance of individual genetic loci pose challenges to research integrating genetics and social science. We introduce genetic risk scores as a method of addressing these challenges and provide guidance on how genetic risk scores can be constructed. We conclude by outlining research questions that are ripe for social science inquiry.

  5. Genetic manipulation of Francisella tularensis

    Directory of Open Access Journals (Sweden)

    Xhavit eZogaj

    2011-01-01

    Full Text Available Francisella tularensis is a facultative intracellular pathogen that causes the disease tularemia. F. tularensis subsp. tularensis causes the most severe disease in humans and has been classified as a select A agent and potential bioweapon. There is currently no vaccine approved for human use, making genetic manipulation of this organism critical to unraveling the genetic basis of pathogenesis and developing countermeasures against tularemia. The development of genetic techniques applicable to F. tularensis have lagged behind those routinely used for other bacteria, primarily due to lack of research and the restricted nature of the biocontainment required for studying this pathogen. However, in recent years, genetic techniques, such as transposon mutagenesis and targeted gene disruption, have been developed, that have had a dramatic impact on our understanding of the genetic basis of F. tularensis virulence. In this review, we describe some of the methods developed for genetic manipulation of F. tularensis.

  6. Genetic View To Stroke Occurrence

    Directory of Open Access Journals (Sweden)

    Sadegh Yoosefee

    2017-02-01

    Full Text Available Stroke is the third leading cause of death. The role of genetics in the etiology and development of this disease is undeniable. As a result of inadequate previous research, more and more studies in the field of genetics are necessary to identify pathways involved in the pathogenesis of stroke, which in turn, may lead to new therapeutic approaches. However, due to the multifactorial nature of stroke and the few studies conducted in this field, genetic diversity is able to predict only a small fraction of the risk of disease. On the other hand, studies have shown genetically different architecture for different types of stroke, and finally pharmacogenomics as an important part of personalized medicine approach, is influenced by genetic studies, all of which confirm the need of addressing the topic by researchers.

  7. Genetics Home Reference: neurofibromatosis type 1

    Science.gov (United States)

    ... Research Institute National Institute of Neurologic Disorders and Stroke Educational Resources (15 links) Boston Children's Hospital Centre for Genetics Education (Australia) Cleveland Clinic Health Information Center Disease ...

  8. Genetics Home Reference: neurofibromatosis type 2

    Science.gov (United States)

    ... Research Institute National Institute of Neurologic Disorders and Stroke Educational Resources (9 links) Centre for Genetics Education (Australia) Disease InfoSearch: Neurofibromatosis type 2 JAMA ...

  9. [Genetic research as a means of proof in the German penal trial after the reform of the Court Rules of Procedure of 17 March 1997 (I)].

    Science.gov (United States)

    Etxeberria Guridi, J F

    1998-01-01

    The authors reviews genetic fingerprinting practice and cases in Germany following the adoption of the new specific regulatory measures in the StPO, and looks at German case law on the subject. Also examined are the way in which the issue of human rights and some doubts which have arisen among authors and the courts have been resolved. The positive aspects of the new regulations are underlined and the author concludes with some proposals for application of these, lege ferenda, in Spain.

  10. Research on Vehicle Routing Problem Based on Improved Genetic Algorithm%改进遗传算法下的车辆路径问题研究

    Institute of Scientific and Technical Information of China (English)

    陈果

    2016-01-01

    The vehicle routing problem is a typical combinatorial optimization problem.With the continuous improvement of logistics requirements, the basic genetic algorithm has been difficult to meet the needs of customers.The basic genetic algorithm in solving this kind of problem,often appear premature convergence, and delivery time of the vehicle has the defects of limited,can not to solve the optimization of this kind of problem,so this paper uses improved genetic algorithm on vehicle routing problem were studied,and explore the improved genetic algorithm in solving the vehicle routing problem is effective.%车辆路径问题是一种典型的组合优化类问题,随着客户对物流要求的不断提升,基本的遗传算法已经很难满足客户的需求。基本的遗传算法在求解这类问题的时候,经常会出现早熟收敛,以及对车辆的运送时间存在限制等方面的缺陷,不能够对这类问题进行最优化求解,所以本文采用改进的遗传算法就车辆路径问题进行研究,并探究改进下的遗传算法在求解车辆路径问题时的有效性。

  11. 转基因食品PCR定性检测的研究进展%Advances in research of PCR qualitative detection of genetically modified organisms in food

    Institute of Scientific and Technical Information of China (English)

    桂枝; 韦东胜; 高建明

    2005-01-01

    以靶序列的选择、DNA提取和产物的检测为主线,概括了PCR(Polymerase Chain Reaction,PCR)在定性检测基因修饰有机体(Genetically modified organisms,GMOs)中的应用,指出了存在的问题以及未来的发展方向.

  12. Research on Vehicle Routing Problem Based on Improved Genetic Algorithm%基于改进遗传算法的车辆路径问题研究

    Institute of Scientific and Technical Information of China (English)

    朱志勇; 刁洪祥

    2011-01-01

    车辆路径问题是一个典型的组合优化类问题,而传统的算法无法满足顾客需求对物流运输提出的要求.遗传算法是求解此类问题的方法之一,针对遗传算法容易出现早熟收敛,以及车辆运送的时间限制,该文采用改进的遗传算法对有时间窗的车辆路径问题进行分析,实验验证了算法的有效性.%Vehicle routing problem is a typical combinational optimization problem, and the traditional algorithms can not meet customer needs for logistics transport. Genetic algorithm is one of the methods used to solve -VRP,because of premature convergence of genetic algorithm and the time constraints of vehicles transporting, this paper analysis vehicle routing problem with Time Window using an improved genetic algorithm. Experiment data prove the effectiveness of the algorithm.

  13. A Genetic Epidemiological Study of Behavioral Traits

    NARCIS (Netherlands)

    N. Amin (Najaf)

    2011-01-01

    textabstractHuman behavioural genetics aims to unravel the genetic and environmental contributions to variations in human behaviour. Behaviour is a complex trait, involving multiple genes that are affected by a variety of other factors. Genetic epidemiological research of behaviour goes back to Sir

  14. Genetic GIScience

    DEFF Research Database (Denmark)

    Jacquez, Geoffrey; Sabel, Clive E; Shi, Chen

    2015-01-01

    The exposome, defined as the totality of an individual's exposures over the life course, is a seminal concept in the environmental health sciences. Although inherently geographic, the exposome as yet is unfamiliar to many geographers. This article proposes a place-based synthesis, genetic...... geographic information science (genetic GIScience), that is founded on the exposome, genome+, and behavome. It provides an improved understanding of human health in relation to biology (the genome+), environmental exposures (the exposome), and their social, societal, and behavioral determinants (the behavome......). Genetic GIScience poses three key needs: first, a mathematical foundation for emergent theory; second, process-based models that bridge biological and geographic scales; third, biologically plausible estimates of space?time disease lags. Compartmental models are a possible solution; this article develops...

  15. Genetic of uveitis.

    Science.gov (United States)

    Pichi, Francesco; Carrai, Paola; Srivastava, Sunil K; Lowder, Careen Y; Nucci, Paolo; Neri, Piergiorgio

    2016-06-01

    Immune-mediated uveitis may be associated with a systemic disease or may be localized to the eye. T-cell-dependent immunological events are increasingly being regarded as extremely important in the pathogenesis of uveitis. Several studies have also shown that macrophages are major effectors of tissue damage in uveitis. Uveitis phenotypes can differ substantially, and most uveitis diseases are considered polygenic with complex inheritance patterns. This review attempts to present the current state of knowledge from in vitro and in vivo research on the role of genetics in the development and clinical course of uveitis. A review of the literature in the PubMed, MEDLINE, and Cochrane databases was conducted to identify clinical trials, comparative studies, case series, and case reports describing host genetic factors as well as immune imbalance which contribute to the development of uveitis. The search was limited to primary reports published in English with human subjects from 1990 to the present, yielding 3590 manuscripts. In addition, referenced articles from the initial searches were hand searched to identify additional relevant reports. After title and abstract selection, duplicate elimination, and manual search, 55 papers were selected for analysis and reviewed by the authors for inclusion in this review. Studies have demonstrated associations between various genetic factors and the development and clinical course of intraocular inflammatory conditions. Genes involved included genes expressing interleukins, chemokines, chemokine receptors, and tumor necrosis factor and genes involved in complement system. When considering the genetics of uveitis, common threads can be identified. Genome-wide scans and other genetic methods are becoming increasingly successful in identifying genetic loci and candidate genes in many inflammatory disorders that have a uveitic component. It will be important to test these findings as uveitis-specific genetic factors. Therefore, the

  16. Research progress on the reverse genetics of PRRSV%猪繁殖与呼吸综合征病毒反向遗传技术的研究进展

    Institute of Scientific and Technical Information of China (English)

    邓雨修; 王东东; 潘永飞; 周庆丰; 苏润环; 李春梅

    2012-01-01

    反向遗传操作技术可以在DNA水平上对RNA病毒基因组进行各种修饰或改造,然后通过拯救病毒的表型变化来判断这些基因操作的效果,从而可以对病毒基因组的表达调控机制、病毒致病的分子机理等进行研究。本文就反向遗传操作技术在PRRSV基因功能结构研究以及新型疫苗开发等研究中的应用进行了综述。%Reverse genetics can run a variety of modifying and transforming at DNA level for RNA virus genome, and then these genetic manipulation effect is judged by phenotype change of rescued virus. So it can be used to research the expression and regulation mechanism of virus genome and molecular mechanism of virus pathogenicity. This review mainly focused on the progress of applications of reverse genetics in the genome functional analysis and new type of vaccine development of PRRSV.

  17. The influence of genetics on contemporary art.

    Science.gov (United States)

    Nelkin, Dorothy; Anker, Suzanne

    2002-12-01

    Contemporary visual artists are incorporating genetic concepts into their work, and this work has become prominently featured in numerous museum and gallery exhibitions. Such art uses visual images that represent the language of genomics, the values affected by genetic understanding of the body and the implications of bioengineering. Here, we present various examples of how artists depict aspects of genetics as cultural icons and symbols; in particular, their focus on DNA as information and on the commercialization of genetics research material.

  18. RNA genetics

    Energy Technology Data Exchange (ETDEWEB)

    Domingo, E. (Instituto de Biologia Molecular, Facultad de Ciencias, Universidad Autonoma de Madrid, Canto Blanco, Madrid (ES)); Holland, J.J. (California Univ., San Diego, La Jolla, CA (USA). Dept. of Biology); Ahlquist, P. (Wisconsin Univ., Madison, WI (USA). Dept. of Plant Pathology)

    1988-01-01

    This book contains the proceedings on RNA genetics: RNA-directed virus replication Volume 1. Topics covered include: Replication of the poliovirus genome; Influenza viral RNA transcription and replication; and Relication of the reoviridal: Information derived from gene cloning and expression.

  19. Genetic counseling

    Science.gov (United States)

    ... MF, eds. Creasy and Resnik's Maternal-Fetal Medicine: Principles and Practice . 7th ed. Philadelphia, PA: Elsevier Saunders; 2014:chap 30. Review Date 1/25/2016 Updated by: Chad Haldeman-Englert, MD, FACMG, Fullerton Genetics Center, Asheville, NC. Review provided by VeriMed Healthcare ...

  20. 基于遗传算法的企业配送路径问题研究%Research on Distribution Routing Problem Based on Genetic Algorithm

    Institute of Scientific and Technical Information of China (English)

    何珍珍

    2013-01-01

    In order to improve the competitiveness, accelerate the development, enterprises have to focus on logistics distribution, the paper use Genetic Algorithm to solve the problem, to improve distribution efficiency, reduce logistics cost.%为提高企业竞争力,加快企业发展,企业已将优化重点转向物流配送环节,文中通过遗传算法设计并求解企业配送路径问题,设计合理的配送路线,提高配送效率,降低物流成本。