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...

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.

Researcher responsibilities and genetic counseling for pure-bred dog populations.

Science.gov (United States)

Bell, Jerold S

2011-08-01

Breeders of dogs have ethical responsibilities regarding the testing and management of genetic disease. Molecular genetics researchers have their own responsibilities, highlighted in this article. Laboratories offering commercial genetic testing should have proper sample identification and quality control, official test result certificates, clear explanations of test results and reasonably priced testing fees. Providing test results to a publicly-accessible genetic health registry allows breeders and the public to search for health-tested parents to reduce the risk of producing or purchasing affected offspring. Counseling on the testing and elimination of defective genes must consider the effects of genetic selection on the population. Recommendations to breed quality carriers to normal-testing dogs and replacing them with quality normal-testing offspring will help to preserve breeding lines and breed genetic diversity. Copyright © 2011 Elsevier Ltd. All rights reserved.

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)

Communication of Biobanks' Research Results : What Do (Potential) Participants Want?

NARCIS (Netherlands)

Meulenkamp, Tineke M.; Gevers, Sjef K.; Bovenberg, Jasper A.; Koppelman, Gerard H.; Vlieg, Astrid van Hylckama; Smets, Ellen M. A.

2010-01-01

The aim of this study was to investigate (potential) research participants' (a) information preferences with regard to receiving biobanks' genetic research results, and (b) attitudes towards the duties of researchers to communicate research results. A total group of 1,678 was analyzed, consisting of

Communication of Biobanks' Research Results: What Do (Potential) Participants Want?

NARCIS (Netherlands)

Meulenkamp, Tineke M.; Gevers, Sjef K.; Bovenberg, Jasper A.; Koppelman, Gerard H.; van Hylckama Vlieg, Astrid; Smets, Ellen M. A.

2010-01-01

The aim of this study was to investigate (potential) research participants' (a) information preferences with regard to receiving biobanks' genetic research results, and (b) attitudes towards the duties of researchers to communicate research results. A total group of 1,678 was analyzed, consisting of

Communication of biobanks’ research results: what do (potential) participants want?

NARCIS (Netherlands)

Meulenkamp, T.M.; Gevers, S.K.; Bovenberg, J.A.; Koppelman, G.H.; Hylckama Vlieg, A. van; Smets, E.M.A.

2010-01-01

The aim of this study was to investigate (potential) research participants' (a) information preferences with regard to receiving biobanks' genetic research results, and (b) attitudes towards the duties of researchers to communicate research results. A total group of 1,678 was analyzed, consisting of

African Americans' opinions about human-genetics research.

Science.gov (United States)

Achter, Paul; Parrott, Roxanne; Silk, Kami

2004-03-01

Research on attitudes toward genetics and medicine registers skepticism among minority communities, but the reasons for this skepticism are not well known. In the past, studies linked mistrust of the medical system to historical ethics violations involving minority groups and to suspicions about ideological premise and political intent. To assess public knowledge, attitudes, and behavior regarding human-genetics research, we surveyed 858 Americans onsite in four community settings or online in a geographically nonspecific manner. Compared to participants as a whole, African Americans were significantly more likely to believe that clinical trials might be dangerous and that the federal government knowingly conducted unethical research, including studies in which risky vaccines were administered to prison populations. However, African Americans were also significantly more likely to believe that the federal government worked to prevent environmental exposure to toxicants harmful to people with genetic vulnerabilities. Our data suggest that most Americans trust government to act ethically in sponsoring and conducting research, including genetics research, but that African Americans are particularly likely to see government as powerfully protective in some settings yet selectively disingenuous in others.

Genetic Contributions to Clinical Pain and Analgesia: Avoiding Pitfalls in Genetic Research

Science.gov (United States)

Kim, Hyungsuk; Clark, David; Dionne, Raymond A.

2010-01-01

Understanding the genetic basis of human variations in pain is critical to elucidating the molecular basis of pain sensitivity, variable responses to analgesic drugs, and, ultimately, to individualized treatment of pain and improved public health. With the help of recently accumulated knowledge and advanced technologies, pain researchers hope to gain insight into genetic mechanisms of pain and eventually apply this knowledge to pain treatment. Perspective We critically reviewed the published literature to examine the strength of evidence supporting genetic influences on clinical and human experimental pain. Based on this evidence and the experience of false associations that have occurred in other related disciplines, we provide recommendations for avoiding pitfalls in pain genetic research. PMID:19559388

Privacy and policy for genetic research.

Science.gov (United States)

DeCew, Judith Wagner

2004-01-01

I begin with a discussion of the value of privacy and what we lose without it. I then turn to the difficulties of preserving privacy for genetic information and other medical records in the face of advanced information technology. I suggest three alternative public policy approaches to the problem of protecting individual privacy and also preserving databases for genetic research: (1) governmental guidelines and centralized databases, (2) corporate self-regulation, and (3) my hybrid approach. None of these are unproblematic; I discuss strengths and drawbacks of each, emphasizing the importance of protecting the privacy of sensitive medical and genetic information as well as letting information technology flourish to aid patient care, public health and scientific research.

[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.

Legal implications of genetics and crime research.

Science.gov (United States)

Denno, D W

1996-01-01

Two controversial topics dominate discussions of the legal implications of genetics and crime research; (1) the viability and politics of such research, which has sparked fervent debate in the USA; and (2) the current status of new or atypical criminal law defences, which would include a genetic-defect defence to criminal behaviour. This chapter begins by examining the scientifically discredited XYY chromosome syndrome defence, the major genetic-defect defence that defendants have attempted, albeit unsuccessfully. It then focuses on attorneys' efforts to test for evidence of genetic abnormality in the recent and highly publicized case involving convicted murderer Stephen Mobley, whose family history reveals four generations of violent, aggressive and behaviourally disordered men and women. Mobley is currently appealing his death sentence before the Georgia Supreme Court on the basis that the trial court denied his request both to have genetic testing performed and to have such testing allowed as evidence into court. This chapter concludes by emphasizing that the question is not whether genetic evidence will ever be admitted into court, but when and under what kinds of circumstances. No doubt, genetic evidence, and comparable kinds of biological evidence, will have a major impact on juries when such evidence is more fully accepted by the legal and scientific communities.

[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.

Understanding participation by African Americans in cancer genetics research.

Science.gov (United States)

McDonald, Jasmine A; Barg, Frances K; Weathers, Benita; Guerra, Carmen E; Troxel, Andrea B; Domchek, Susan; Bowen, Deborah; Shea, Judy A; Halbert, Chanita Hughes

2012-01-01

Understanding genetic factors that contribute to racial differences in cancer outcomes may reduce racial disparities in cancer morbidity and mortality. Achieving this goal will be limited by low rates of African American participation in cancer genetics research. We conducted a qualitative study with African American adults (n = 91) to understand attitudes about participating in cancer genetics research and to identify factors that are considered when making a decision about participating in this type of research. Participants would consider the potential benefits to themselves, family members, and their community when making a decision to participate in cancer genetics research. However, concerns about exploitation, distrust of researchers, and investigators' motives were also important to participation decisions. Individuals would also consider who has access to their personal information and what would happen to these data. Side effects, logistical issues, and the potential to gain knowledge about health issues were also described as important factors in decision making. African Americans may consider a number of ethical, legal, and social issues when making a decision to participate in cancer genetics research. These issues should be addressed as part of recruitment efforts.

Public health genomics and genetic test evaluation: the challenge of conducting behavioural research on the utility of lifestyle-genetic tests.

Science.gov (United States)

Sanderson, Saskia C; Wardle, Jane; Humphries, Steve E

2008-01-01

Human genetics research is increasingly concerned with multifactorial conditions such as diabetes and heart disease, which are influenced not only by genetic but also lifestyle factors such as diet and smoking. Although the results of 'lifestyle-genetic' tests using this information could conceivably motivate lifestyle changes in the future, companies are already selling such tests and related lifestyle advice commercially. Some academics and lobby groups have condemned the companies for selling these tests in advance of scientific support. Others are concerned that the tests may not motivate lifestyle improvements, instead causing distress in people receiving adverse test results and complacency in those receiving reassuring results. There is currently no regulatory oversight of genetic test utility, despite consensus in the Public Health Genomics community that clinical utility (including psychological and behavioural impact) of all emerging genetic tests should be evaluated before being introduced for individual use. Clearly, empirical data in this area is much needed, to inform understanding of the potential utility of these tests, and of whether stricter regulation of commercial exploitation is needed. In this article, we review the current situation regarding lifestyle-genetic tests, and discuss the challenges inherent in conducting this kind of behavioural research in the genomics era. Copyright 2008 S. Karger AG, Basel.

Ethical genetic research in Indigenous communities: challenges and successful approaches.

Science.gov (United States)

McWhirter, Rebekah E; Mununggirritj, Djapirri; Marika, Dipililnga; Dickinson, Joanne L; Condon, John R

2012-12-01

Indigenous populations, in common with all populations, stand to benefit from the potential of genetic research to lead to improvements in diagnostic and therapeutic tools for a wide range of complex diseases. However, many Indigenous communities, especially ones that are isolated, are not included in genetic research efforts. This situation is largely a consequence of the challenges of ethically conducting genetic research in Indigenous communities and compounded by Indigenous peoples' negative past experiences with genetic issues. To examine ways of addressing these challenges, we review one investigation of a cancer cluster in remote Aboriginal communities in Arnhem Land, Australia. Our experiences demonstrate that genetic research can be both ethically and successfully conducted with Indigenous communities by respecting the authority of the community, involving community members, and including regular community review throughout the research process. Copyright © 2012 Elsevier Ltd. All rights reserved.

Institute of Genetics. Progress report on research and development activities in 1994

International Nuclear Information System (INIS)

1995-01-01

The Institute of Genetics performed R and D work on the following subjects: Effects induced by radiation, oxygen radicals, and chemical mutagens; Regulation of genetic activity; Mechanisms of tumor spreading; Genetic models of mice for simulation of defects in man; p53 and the 'dioxin' receptor as targets of toxic agents. The research results achieved in the reporting period are reviewed and explained. (orig./MG) [de

Different differences: The use of ‘genetic ancestry’ versus race in biomedical human genetic research

Science.gov (United States)

Fujimura, Joan H.; Rajagopalan, Ramya

2011-01-01

This article presents findings from our ethnographic research on biomedical scientists’ studies of human genetic variation and common complex disease. We examine the socio-material work involved in genome-wide association studies (GWAS) and discuss whether, how, and when notions of race and ethnicity are or are not used. We analyze how researchers produce simultaneously different kinds of populations and population differences. Although many geneticists use race in their analyses, we find some who have invented a statistical genetics method and associated software that they use specifically to avoid using categories of race in their genetics analysis. Their method allows them to operationalize their concept of ‘genetic ancestry’ without resorting to notions of race and ethnicity. We focus on the construction and implementation of the software’s algorithms, and discuss the consequences and implications of the software technology for debates and policies around the use of race in genetics research. We also demonstrate that the production and use of their method involves a dynamic and fluid assemblage of actors in various disciplines responding to disciplinary and sociopolitical contexts and concerns. This assemblage also includes particular discourses on human history and geography as they become entangled with research on genetic markers and disease. We introduce the concept of ‘genome geography’, to analyze how some researchers studying human genetic variation ‘locate’ stretches of DNA in different places and times. The concept of genetic ancestry and the practice of genome geography rely on old discourses, but they also incorporate new technologies, infrastructures, and political and scientific commitments. Some of these new technologies provide opportunities to change some of our institutional and cultural forms and frames around notions of difference and similarity. Neverthless, we also highlight the slipperiness of genome geography and the

Human genome and genetic sequencing research and informed consent

International Nuclear Information System (INIS)

Iwakawa, Mayumi

2003-01-01

On March 29, 2001, the Ethical Guidelines for Human Genome and Genetic Sequencing Research were established. They have intended to serve as ethical guidelines for all human genome and genetic sequencing research practice, for the purpose of upholding respect for human dignity and rights and enforcing use of proper methods in the pursuit of human genome and genetic sequencing research, with the understanding and cooperation of the public. The RadGenomics Project has prepared a research protocol and informed consent document that follow these ethical guidelines. We have endeavored to protect the privacy of individual information, and have established a procedure for examination of research practices by an ethics committee. Here we report our procedure in order to offer this concept to the patients. (authors)

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

Consulting the community: public expectations and attitudes about genetics research

Science.gov (United States)

Etchegary, Holly; Green, Jane; Dicks, Elizabeth; Pullman, Daryl; Street, Catherine; Parfrey, Patrick

2013-01-01

Genomic discoveries and technologies promise numerous opportunities for improving health. Key to these potential health improvements, however, are health-care consumers' understanding and acceptance of these new developments. We identified community groups and invited them to a public information-consultation session in order to explore public awareness, perception and expectations about genetics and genomics research. One hundred and four members of seven community groups in Newfoundland, Canada took part in the community sessions. Content analysis of participant comments revealed they were largely hopeful about genetics research in its capacity to improve health; however, they did not accept such research uncritically. Complex issues arose during the community consultations, including the place of genetics in primary care, the value of genetics for personal health, and concerns about access to and uses of genetic information. Participants unequivocally endorsed the value of public engagement with these issues. The rapid pace of discoveries in genomics research offers exciting opportunities to improve population health. However, public support will be crucial to realize health improvements. Our findings suggest that regular, transparent dialog between researchers and the public could allow a greater understanding of the research process, as well as assist in the design of efficient and effective genetic health services, informed by the public that will use them. PMID:23591403

Genetic testing and its implications: human genetics researchers grapple with ethical issues.

Science.gov (United States)

Rabino, Isaac

2003-01-01

To better understand ethical issues involved in the field of human genetics and promote debate within the scientific community, the author surveyed scientists who engage in human genetics research about the pros, cons, and ethical implications of genetic testing. This study contributes systematic data on attitudes of scientific experts. The survey finds respondents are highly supportive of voluntary testing and the right to know one's genetic heritage. The majority consider in utero testing and consequent pregnancy termination acceptable for cases involving likelihood of serious disease but disapprove for genetic reasons they consider arbitrary, leaving a gray area of distinguishing between treatment of disorders and enhancement still to be resolved. While safeguarding patient confidentiality versus protecting at-risk third parties (kin, reproductive partners) presents a dilemma, preserving privacy from misuse by institutional third parties (employers, insurers) garners strong consensus for legislation against discrimination. Finally, a call is made for greater genetic literacy.

Research and Applications of Shop Scheduling Based on Genetic Algorithms

Directory of Open Access Journals (Sweden)

Hang ZHAO

Full Text Available ABSTRACT Shop Scheduling is an important factor affecting the efficiency of production, efficient scheduling method and a research and application for optimization technology play an important role for manufacturing enterprises to improve production efficiency, reduce production costs and many other aspects. Existing studies have shown that improved genetic algorithm has solved the limitations that existed in the genetic algorithm, the objective function is able to meet customers' needs for shop scheduling, and the future research should focus on the combination of genetic algorithm with other optimized algorithms. In this paper, in order to overcome the shortcomings of early convergence of genetic algorithm and resolve local minimization problem in search process,aiming at mixed flow shop scheduling problem, an improved cyclic search genetic algorithm is put forward, and chromosome coding method and corresponding operation are given.The operation has the nature of inheriting the optimal individual ofthe previous generation and is able to avoid the emergence of local minimum, and cyclic and crossover operation and mutation operation can enhance the diversity of the population and then quickly get the optimal individual, and the effectiveness of the algorithm is validated. Experimental results show that the improved algorithm can well avoid the emergency of local minimum and is rapid in convergence.

Genetic and Environmental Sources of Implicit and Explicit Self-Esteem and Affect: Results from a Genetically Sensitive Multi-group Design.

Science.gov (United States)

Stieger, Stefan; Kandler, Christian; Tran, Ulrich S; Pietschnig, Jakob; Voracek, Martin

2017-03-01

In today's world, researchers frequently utilize indirect measures of implicit (i.e., automatic, spontaneous) evaluations. The results of several studies have supported the usefulness of these measures in predicting behavior, as compared to utilizing direct measures of explicit (i.e., purposeful, deliberate) evaluations. A current, under-debate issue concerns the origin of these implicit evaluations. The present genetically sensitive multi-group study analyzed data from 223 twin pairs and 222 biological core families to estimate possible genetic and environmental sources of individual differences in implicit and explicit self-esteem and affect. The results show that implicit self-esteem and affect maintain a substantial genetic basis, but demonstrate little influence from the shared environment by siblings (e.g., shared familial socialization in childhood). A bivariate analysis found that implicit and explicit evaluations of the same construct share a common genetic core which aligns with the motivation and opportunity as determinants (MODE) model.

Recent developments in genetics and medically assisted reproduction: from research to clinical applications.

Science.gov (United States)

Harper, J C; Aittomäki, K; Borry, P; Cornel, M C; de Wert, G; Dondorp, W; Geraedts, J; Gianaroli, L; Ketterson, K; Liebaers, I; Lundin, K; Mertes, H; Morris, M; Pennings, G; Sermon, K; Spits, C; Soini, S; van Montfoort, A P A; Veiga, A; Vermeesch, J R; Viville, S; Macek, M

2018-01-01

Two leading European professional societies, the European Society of Human Genetics and the European Society for Human Reproduction and Embryology, have worked together since 2004 to evaluate the impact of fast research advances at the interface of assisted reproduction and genetics, including their application into clinical practice. In September 2016, the expert panel met for the third time. The topics discussed highlighted important issues covering the impacts of expanded carrier screening, direct-to-consumer genetic testing, voiding of the presumed anonymity of gamete donors by advanced genetic testing, advances in the research of genetic causes underlying male and female infertility, utilisation of massively parallel sequencing in preimplantation genetic testing and non-invasive prenatal screening, mitochondrial replacement in human oocytes, and additionally, issues related to cross-generational epigenetic inheritance following IVF and germline genome editing. The resulting paper represents a consensus of both professional societies involved.

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.

Progress report on research and development work 1991 of the Institute of Genetics and Toxicology of Fissionable Materials, Karlsruhe Nuclear Research Center

International Nuclear Information System (INIS)

1991-03-01

The present annual report describes the results of research work done by the Institute of Genetics and Toxicology of Fissionable Materials (IGT) in 1991. The following eight subjects were dealt with: genetic repair; genetic regulation; biological carcinogenesis; molecular genetics of eukaryontic genes; genetic mouse models for human illnesses; radiation toxicology of actinides; molecular and cellular environmental toxicology, and in vivo fractionation and speciation of actinides. (MG) [de

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

Molecular research and genetic engineering of resistance to ...

African Journals Online (AJOL)

This paper reviews the recent research progress on genetic methods of resistance, the status and existing problems, traditional breeding, the main resistance mechanism, molecular markers and genetic engineering of resistance genes. It is hoped that new breeding methods and new varieties resistant to Verticillium wilt will ...

Results of Evolution Supervised by Genetic Algorithms

Directory of Open Access Journals (Sweden)

Lorentz JÄNTSCHI

2010-09-01

Full Text Available The efficiency of a genetic algorithm is frequently assessed using a series of operators of evolution like crossover operators, mutation operators or other dynamic parameters. The present paper aimed to review the main results of evolution supervised by genetic algorithms used to identify solutions to agricultural and horticultural hard problems and to discuss the results of using a genetic algorithms on structure-activity relationships in terms of behavior of evolution supervised by genetic algorithms. A genetic algorithm had been developed and implemented in order to identify the optimal solution in term of estimation power of a multiple linear regression approach for structure-activity relationships. Three survival and three selection strategies (proportional, deterministic and tournament were investigated in order to identify the best survival-selection strategy able to lead to the model with higher estimation power. The Molecular Descriptors Family for structure characterization of a sample of 206 polychlorinated biphenyls with measured octanol-water partition coefficients was used as case study. Evolution using different selection and survival strategies proved to create populations of genotypes living in the evolution space with different diversity and variability. Under a series of criteria of comparisons these populations proved to be grouped and the groups were showed to be statistically different one to each other. The conclusions about genetic algorithm evolution according to a number of criteria were also highlighted.

Increasing global participation in genetics research through DNA barcoding.

Science.gov (United States)

Adamowicz, Sarah J; Steinke, Dirk

2015-12-01

DNA barcoding--the sequencing of short, standardized DNA regions for specimen identification and species discovery--has promised to facilitate rapid access to biodiversity knowledge by diverse users. Here, we advance our opinion that increased global participation in genetics research is beneficial, both to scientists and for science, and explore the premise that DNA barcoding can help to democratize participation in genetics research. We examine publication patterns (2003-2014) in the DNA barcoding literature and compare trends with those in the broader, related domain of genomics. While genomics is the older and much larger field, the number of nations contributing to the published literature is similar between disciplines. Meanwhile, DNA barcoding exhibits a higher pace of growth in the number of publications as well as greater evenness among nations in their proportional contribution to total authorships. This exploration revealed DNA barcoding to be a highly international discipline, with growing participation by researchers in especially biodiverse nations. We briefly consider several of the challenges that may hinder further participation in genetics research, including access to training and molecular facilities as well as policy relating to the movement of genetic resources.

A nursing theory-guided framework for genetic and epigenetic research.

Science.gov (United States)

Maki, Katherine A; DeVon, Holli A

2018-04-01

The notion that genetics, through natural selection, determines innate traits has led to much debate and divergence of thought on the impact of innate traits on the human phenotype. The purpose of this synthesis was to examine how innate theory informs genetic research and how understanding innate theory through the lens of Martha Rogers' theory of unitary human beings can offer a contemporary view of how innate traits can inform epigenetic and genetic research. We also propose a new conceptual model for genetic and epigenetic research. The philosophical, theoretical, and research literatures were examined for this synthesis. We have merged philosophical and conceptual phenomena from innate theory with the theory of unitary beings into the University of Illinois at Chicago model for genetic and epigenetic research. Innate traits are the cornerstone of the framework but may be modified epigenetically by biological, physiological, psychological, and social determinants as they are transcribed. These modifiers serve as important links between the concept of innate traits and epigenetic modifications, and, like the theory of unitary human beings, the process is understood in the context of individual and environmental interaction that has the potential to evolve as the determinants change. © 2018 John Wiley & Sons Ltd.

Public and biobank participant attitudes toward genetic research participation and data sharing.

Science.gov (United States)

Lemke, A A; Wolf, W A; Hebert-Beirne, J; Smith, M E

2010-01-01

Research assessing attitudes toward consent processes for high-throughput genomic-wide technologies and widespread sharing of data is limited. In order to develop a better understanding of stakeholder views toward these issues, this cross-sectional study assessed public and biorepository participant attitudes toward research participation and sharing of genetic research data. Forty-nine individuals participated in 6 focus groups; 28 in 3 public focus groups and 21 in 3 NUgene biorepository participant focus groups. In the public focus groups, 75% of participants were women, 75% had some college education or more, 46% were African-American and 29% were Hispanic. In the NUgene focus groups, 67% of participants were women, 95% had some college education or more, and the majority (76%) of participants was Caucasian. Five major themes were identified in the focus group data: (a) a wide spectrum of understanding of genetic research; (b) pros and cons of participation in genetic research; (c) influence of credibility and trust of the research institution; (d) concerns about sharing genetic research data and need for transparency in the Policy for Sharing of Data in National Institutes of Health-Supported or Conducted Genome-Wide Association Studies; (e) a need for more information and education about genetic research. In order to increase public understanding and address potential concerns about genetic research, future efforts should be aimed at involving the public in genetic research policy development and in identifying or developing appropriate educational strategies to meet the public's needs.

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. © 2014 John Wiley & Sons Ltd.

Medical Genetics at McGill: The History of a Pioneering Research Group.

Science.gov (United States)

Canning, Christopher; Weisz, George; Tone, Andrea; Cambrosio, Alberto

2013-01-01

The McGill Group in Medical Genetics was formed in 1972, supported by the Medical Research Council and successor Canadian Institutes for Health Research until September 2009, making it the longest active biomedical research group in the history of Canada. We document the history of the McGill Group and situate its research within a broader history of medical genetics. Drawing on original oral histories with the Group's members, surviving documents, and archival materials, we explore how the Group's development was structured around epistemological trends in medical genetics, policy choices made by research agencies, and the development of genetics at McGill University and its hospitals.

[Sex- and gender-sensitive research in epidemiology and medicine: how can this be achieved? Aims and first results of the network "Sex-/Gender-Sensitive Research in Epidemiology, Neurosciences and Genetics/Cancer Research"].

Science.gov (United States)

Jahn, I; Gansefort, D; Kindler-Röhrborn, A; Pfleiderer, B

2014-09-01

It is considered general knowledge among physicians and epidemiologists that biological and social aspects associated with being male or female have a strong influence on health and disease. Integrating these aspects into research is necessary to counteract the problems--including ethical problems--resulting from a different evidence basis for men and women. From January 2011 to June 2014 the Federal Ministry of Education and Research supported the network "Sex-/Gender-Sensitive Research in Epidemiology, Neuroscience and Genetics/Cancer Research" with three subprojects, which aimed to promote gender-sensitive research practices. The concepts and results are presented in this article. The subproject gathered data (literature analyses, questionnaires) and offered programs for young scientists. Experiences and results were collected and generalized, for instance, in the form of definitions of terms. 50 young scientists have taken part in the training program, identifying associations and barriers in sex-/gender-sensitive research. Among others, a working definition for "sex-/gender-sensitive research" was developed, as well as definitions for the terms "sex-specific" (for biological characteristics that are specific to men or women) and "sex-/gender-dependent" or "sex-/gender-associated" (for biological and social factors, for which the extent of occurrence differs between the sexes). The concepts realized by the network are well suited to stimulate further development and discussions. The definition of terms is an important base for a productive and high-yielding interdisciplinary collaboration.

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. Copyright © 2016 the American Physiological Society.

RESEARCH NOTE Molecular genetic analysis of consanguineous ...

Indian Academy of Sciences (India)

Navya

Molecular genetic analysis of consanguineous families with primary microcephaly ... Translational Research Institute, Academic Health System, Hamad Medical ..... bridging the gap between homozygosity mapping and deep sequencing.

[Ethical challenges of genetic manipulation and research with animals].

Science.gov (United States)

Rodríguez Yunta, Eduardo

2012-01-01

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.

Future needs in research on genetic sexing of Ceratitis capitata

International Nuclear Information System (INIS)

Seawright, J.A.

1997-01-01

The author makes suggestions on the direction of research for genetic sexing over the next several years and prepared the paper as a guide for discussion. The literature of genetic and cytogenetic studies on insects as a whole is the basis for most of the approaches that the genetic control community has used, but only a tiny fraction of the literature is directed at genetic sexing and most of that is limited to, small scale laboratory studies. The effort to use genetic sexing strains on the scale of mass rearing of medflies is unprecedented, and it is not surprising that a few problems have been encountered during implementation. Consideration of this fact leads to the conclusion that it is necessary to 'think big' and target the research. (author)

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.

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. Copyright © 2013 Wiley Periodicals, Inc.

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.

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.

Public Health Genomics and Genetic Test Evaluation: The Challenge of Conducting Behavioural Research on the Utility of Lifestyle-Genetic Tests

OpenAIRE

Sanderson, Saskia C.; Wardle, Jane; Humphries, Steve E.

2008-01-01

Human genetics research is increasingly concerned with multifactorial conditions such as diabetes and heart disease, which are influenced not only by genetic but also lifestyle factors such as diet and smoking. Although the results of ‘lifestyle-genetic’ tests using this information could conceivably motivate lifestyle changes in the future, companies are already selling such tests and related lifestyle advice commercially. Some academics and lobby groups have condemned the companies for sell...

Identifying future research needs in landscape genetics: Where to from here?

Science.gov (United States)

Niko Balkenhol; Felix Gugerli; Sam A. Cushman; Lisette P. Waits; Aurelie Coulon; J. W. Arntzen; Rolf Holderegger; Helene H. Wagner

2009-01-01

Landscape genetics is an emerging interdisciplinary field that combines methods and concepts from population genetics, landscape ecology, and spatial statistics. The interest in landscape genetics is steadily increasing, and the field is evolving rapidly. We here outline four major challenges for future landscape genetic research that were identified during an...

Symptom Cluster Research With Biomarkers and Genetics Using Latent Class Analysis.

Science.gov (United States)

Conley, Samantha

2017-12-01

The purpose of this article is to provide an overview of latent class analysis (LCA) and examples from symptom cluster research that includes biomarkers and genetics. A review of LCA with genetics and biomarkers was conducted using Medline, Embase, PubMed, and Google Scholar. LCA is a robust latent variable model used to cluster categorical data and allows for the determination of empirically determined symptom clusters. Researchers should consider using LCA to link empirically determined symptom clusters to biomarkers and genetics to better understand the underlying etiology of symptom clusters. The full potential of LCA in symptom cluster research has not yet been realized because it has been used in limited populations, and researchers have explored limited biologic pathways.

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

Cancer Genetics and Signaling | Center for Cancer Research

Science.gov (United States)

The Cancer, Genetics, and Signaling (CGS) Group at the National Cancer Institute at Frederick  offers a competitive postdoctoral training and mentoring program focusing on molecular and genetic aspects of cancer. The CGS Fellows Program is designed to attract and train exceptional postdoctoral fellows interested in pursuing independent research career tracks. CGS Fellows participate in a structured mentoring program designed for scientific and career development and transition to independent positions.

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.

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.

Employees' perspectives on ethically important aspects of genetic research participation: a pilot study.

Science.gov (United States)

Roberts, Laura Weiss; Warner, Teddy D; Geppert, Cynthia M A; Rogers, Melinda; Green Hammond, Katherine A

2005-01-01

Insights from genetic research may greatly improve our understanding of physical and mental illnesses and assist in the prevention of disease. Early experience with genetic information suggests that it may lead to stigma, discrimination, and other psychosocial harms, however, and this may be particularly salient in some settings, such as the workplace. Despite the importance of these issues, little is known about how healthy adults, including workers, perceive and understand ethically important issues in genetic research pertaining to physical and mental illness. We developed, pilot tested, and administered a written survey and structured interview to 63 healthy working adults in 2 settings. For this paper, we analyzed a subset of items that assessed attitudes toward ethically relevant issues related to participation in genetic research on physical and mental illness, such as its perceived importance, its acceptability for various populations, and appropriate motivations for participation. Our respondents strongly endorsed the importance of physical and mental illness genetic research. They viewed participation as somewhat to very acceptable for all 12 special population groups we asked about, including persons with mental illness. They perceived more positives than negatives in genetic research participation, giving neutral responses regarding potential risks. They affirmed many motivations for participation to varying degrees. Men tended to affirm genetic research participation importance, acceptability, and motivations more strongly than women. Healthy working persons may be willing partners in genetic research related to physical and mental illnesses in coming years. This project suggests the feasibility and value of evidence-based ethics inquiry, although further study is necessary. Evidence regarding stakeholders' perspectives on ethically important issues in science may help in the development of research practices and policy.

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. © 2015 The Hastings Center.

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....

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. 2014 FRAME.

Estimation of genetic variability and heritability of wheat agronomic traits resulted from some gamma rays irradiation techniques

International Nuclear Information System (INIS)

Wijaya Murti Indriatama; Trikoesoemaningtyas; Syarifah Iis Aisyah; Soeranto Human

2016-01-01

Gamma irradiation techniques have significant effect on frequency and spectrum of macro-mutation but the study of its effect on micro-mutation that related to genetic variability on mutated population is very limited. The aim of this research was to study the effect of gamma irradiation techniques on genetic variability and heritability of wheat agronomic characters at M2 generation. This research was conducted from July to November 2014, at Cibadak experimental station, Indonesian Center for Agricultural Biotechnology and Genetic Resources Research and Development, Ministry of Agriculture. Three introduced wheat breeding lines (F-44, Kiran-95 & WL-711) were treated by 3 gamma irradiation techniques (acute, fractionated and intermittent). M1 generation of combination treatments were planted and harvested its spike individually per plants. As M2 generation, seeds of 75 M1 spike were planted at the field with one row one spike method and evaluated on the agronomic characters and its genetic components. The used of gamma irradiation techniques decreased mean but increased range values of agronomic traits in M2 populations. Fractionated irradiation induced higher mean and wider range on spike length and number of spike let per spike than other irradiation techniques. Fractionated and intermittent irradiation resulted greater variability of grain weight per plant than acute irradiation. The number of tillers, spike weight, grain weight per spike and grain weight per plant on M2 population resulted from induction of three gamma irradiation techniques have high estimated heritability and broad sense of genetic variability coefficient values. The three gamma irradiation techniques increased genetic variability of agronomic traits on M2 populations, except plant height. (author)

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.

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.

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

Ethical considerations in forensic genetics research on tissue samples collected post-mortem in Cape Town, South Africa.

Science.gov (United States)

Heathfield, Laura J; Maistry, Sairita; Martin, Lorna J; Ramesar, Raj; de Vries, Jantina

2017-11-29

The use of tissue collected at a forensic post-mortem for forensic genetics research purposes remains of ethical concern as the process involves obtaining informed consent from grieving family members. Two forensic genetics research studies using tissue collected from a forensic post-mortem were recently initiated at our institution and were the first of their kind to be conducted in Cape Town, South Africa. This article discusses some of the ethical challenges that were encountered in these research projects. Among these challenges was the adaptation of research workflows to fit in with an exceptionally busy service delivery that is operating with limited resources. Whilst seeking guidance from the literature regarding research on deceased populations, it was noted that next of kin of decedents are not formally recognised as a vulnerable group in the existing ethical and legal frameworks in South Africa. The authors recommend that research in the forensic mortuary setting is approached using guidance for vulnerable groups, and the benefit to risk standard needs to be strongly justified. Lastly, when planning forensic genetics research, consideration must be given to the potential of uncovering incidental findings, funding to validate these findings and the feedback of results to family members; the latter of which is recommended to occur through a genetic counsellor. It is hoped that these experiences will contribute towards a formal framework for conducting forensic genetic research in medico-legal mortuaries in South Africa.

Rethinking Research for Genetically Modified (GM) Food

OpenAIRE

Yin-Ling; Lin

2012-01-01

This paper suggests a rethinking of the existing research about Genetically Modified (GM) food. Since the first batch of GM food was commercialised in the UK market, GM food rapidly received and lost media attention in the UK. Disagreement on GM food policy between the US and the EU has also drawn scholarly attention to this issue. Much research has been carried out intending to understand people-s views about GM food and the shaping of these views. This paper was based o...

Views of female breast cancer patients who donated biologic samples regarding storage and use of samples for genetic research.

Science.gov (United States)

Kaphingst, K A; Janoff, J M; Harris, L N; Emmons, K M

2006-05-01

Although social and ethical issues related to the storage and use of biologic specimens for genetic research have been discussed extensively in the medical literature, few empiric data exist describing patients' views. This qualitative study explored the views of 26 female breast cancer patients who had consented to donate blood or tissue samples for breast cancer research. Participants generally did not expect personal benefits from research and had few unprompted concerns. Few participants had concerns about use of samples for studies not planned at the time of consent. Some participants did express concerns about insurance or employment discrimination, while others believed that current privacy protections might actually slow breast cancer research. Participants were generally more interested in receiving individual genetic test results from research studies than aggregate results. Most participants did not want individual results of uncertain clinical significance, although others believed that they should be able to receive such information. These data examined the range of participants' views regarding the storage and use of biologic samples. Further research with different and diverse patient populations is critical to establishing an appropriate balance between protecting the rights of human subjects in genetic research and allowing research to progress.

Institute of Genetics and of Toxicology of Fissile Materials. Progress report on research and development work in 1992

International Nuclear Information System (INIS)

1993-03-01

In the year under report, the institute's scope of investigations comprised the seven topics surveyed in the following together with the most recent research results obtained. These were genetic repair and genetic regulation mechanisms, biologic carcinogenesis, molecular genetics of eukaryotic genes, genetic mouse models of human disorders, toxicology of radioactive and non-radioactive heavy metals as well as environmental toxicology at the molecular and cellular levels. (orig./MG) [de

Sub-Saharan centralized biorepository for genetic and genomic research.

Science.gov (United States)

Gasmelseed, Nagla; Elsir, Afrah Awad; Deblasio, Pasquale; Biunno, Ida

2012-04-15

Quality-assessed biomedical samples are essential for academia- and industry driven research on human diseases. The etiologies and the molecular genetic factors relevant in African diseases, including both infections and complex degenerative diseases as well as cancer, need to be studied using well annotated and well-preserved biosamples acquired from native African ethnic groups and compare the results with non-African populations and/or with Afro-Americans. However, a number of difficulties negatively impact on the possibility to obtain clinically annotated biological samples in most Sub-Saharan African countries. This is mainly due to major organizational problems, lack of clinical centres that can dedicate resources to research, as well as lack of facilities in which biomaterials can be properly processed and safely stored. Harmonization of biosample acquisition, storage phenotyping schemes and biocomputer infrastructures are the principal objectives of biological resource centers (BRCs). BRCs comprise biobanks of different formats (collection of blood, DNA, tissues, etc., annotated with medical, environmental, life-style and follow up data) a fundamental tool for molecular epidemiological studies aiming to increase excellence and efficacy of biomedical results, drug development and public health. BRCs provide large and highly controlled biomolecular resources necessary to meet the "omics" scientific platforms. Sudan may be a candidate nation to host such infrastructure, in view of its strategic geographical position and the already existing simple biobanking experiences connected with research groups in Central Sudan. Here, we describe the potential role of biobanks in African genetic studies aiming to dissect the eziopathogenesis of complex diseases in relation to environmental and life-style factors. Copyright © 2010 Elsevier B.V. All rights reserved.

Applications of genetic programming in cancer research.

Science.gov (United States)

Worzel, William P; Yu, Jianjun; Almal, Arpit A; Chinnaiyan, Arul M

2009-02-01

The theory of Darwinian evolution is the fundamental keystones of modern biology. Late in the last century, computer scientists began adapting its principles, in particular natural selection, to complex computational challenges, leading to the emergence of evolutionary algorithms. The conceptual model of selective pressure and recombination in evolutionary algorithms allow scientists to efficiently search high dimensional space for solutions to complex problems. In the last decade, genetic programming has been developed and extensively applied for analysis of molecular data to classify cancer subtypes and characterize the mechanisms of cancer pathogenesis and development. This article reviews current successes using genetic programming and discusses its potential impact in cancer research and treatment in the near future.

Key Issues in Essential Tremor Genetics Research: Where Are We Now and How Can We Move Forward?

Directory of Open Access Journals (Sweden)

Claudia M. Testa

2013-03-01

Full Text Available Genetics research is an avenue towards understanding essential tremor (ET. Advances have been made in genetic linkage and association: there are three reported ET susceptibility loci, and mixed but growing data on risk associations. However, causal mutations have not been forthcoming. This disappointing lack of progress has opened productive discussions on challenges in ET genetics research, including fundamental assumptions in the field. This article reviews the ET genetics literature, results to date, the open questions in ET genetics and the current challenges in addressing them. Several inherent ET features complicate genetic linkage and association studies: high potential phenocopy rates, inaccurate tremor self-reporting, and ET misdiagnoses are examples. Increasing use of direct exam data for subjects, family members and controls is one current response. Smaller moves towards expanding ET phenotype research concepts into non-tremor features, clinically disputed ET subsets, and testing phenotype features instead of clinical diagnosis against genetic data are gradually occurring. The field has already moved to considering complex trait mechanisms requiring detection of combinations of rare genetic variants. Hypotheses may move further to consider novel mechanisms of inheritance, such as epigenetic. It is an exciting time in ET genetics as investigators start moving past assumptions underlying both phenotype and genetics experimental contributions, overcoming challenges to collaboration, and engaging the ET community. Multicenter collaborative efforts comprising rich longitudinal prospective phenotype data and neuropathologic analysis combined with the latest in genetics experimental design and technology will be the next wave in the field.

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.

Parental Virtue and Prenatal Genetic Alteration Research.

Science.gov (United States)

Tonkens, Ryan

2015-12-01

Although the philosophical literature on the ethics of human prenatal genetic alteration (PGA) purports to inform us about how to act, it rarely explicitly recognizes the perspective of those who will be making the PGA decision in practice. Here I approach the ethics of PGA from a distinctly virtue-based perspective, taking seriously what it means to be a good parent making this decision for one's child. From this perspective, I generate a sound verdict on the moral standing of human PGA (research): given the current state of the art, good parents have compelling reason not to consent to PGA (research) for their child, especially as part of the first wave(s) of PGA research participants and especially for non-medically oriented purposes. This is because doing otherwise is inconsistent with a plausible and defensible understanding of virtuous parenting and parental virtues, founded on a genuine concern for promoting the overall flourishing of the eventual child. In essence, given the current and foreseeable state of the art, parents who allow prenatal genetic alteration of their children are less-than-virtuous parents to those children, even in cases where they have a right to do so and even if PGA turns out to be beneficial to the eventual child.

Maternal smoking during pregnancy and offspring conduct problems: Evidence from three independent genetically-sensitive research designs

Science.gov (United States)

Gaysina, Darya; Fergusson, David M.; Leve, Leslie D.; Horwood, John; Reiss, David; Shaw, Daniel S.; Elam, Kit K.; Natsuaki, Misaki N.; Neiderhiser, Jenae M.; Harold, Gordon T.

2013-01-01

Context A number of studies report an association between maternal smoking during pregnancy and offspring conduct disorder. However, past research evidences difficulty disaggregating prenatal environmental from genetic and postnatal environmental influences. Objective To examine the relationship between maternal smoking during pregnancy and offspring conduct problems among children reared by genetically-related and genetically-unrelated mothers. Design, Setting and Participants Three studies employing distinct but complementary research designs were utilized: The Christchurch Health and Development Study (a longitudinal cohort study that includes biological and adopted children), the Early Growth and Development Study (a longitudinal adoption at birth study), and the Cardiff IVF Study (genetically-related and -unrelated families; an adoption at conception study). Maternal smoking during pregnancy was measured as the average number of cigarettes/day (0, 1–9 or 10+) smoked during pregnancy. A number of possible covariates (child gender, ethnicity, birth weight, breast feeding, maternal age at birth, maternal education, family SES, family breakdown, placement age, and parenting practices) were controlled in the analyses. Main Outcome Measure Child conduct problems (age 4–10 years) reported by parents and/or teachers using the Rutter and Conners behaviour scales, the Child Behavior Checklist and Children's Behavior Questionnaire, and the Strengths and Difficulties Questionnaire. Results A significant association between maternal smoking during pregnancy and child conduct problems was observed among children reared by genetically-related and genetically-unrelated mothers. Results from a meta-analysis affirmed this pattern of findings across pooled study samples. Conclusions Findings across the three studies using a complement of genetically-sensitive research designs suggest smoking during pregnancy is a prenatal risk factor for offspring conduct problems, when

Disclosure of individual genetic data to research participants: the debate reconsidered

NARCIS (Netherlands)

Bredenoord, A.L.; Kroes, H.Y.; Cuppen, E.; Parker, M.; van Delden, J.J.M.

2010-01-01

Despite extensive debate, there is no consensus on whether individual genetic data should be disclosed to research participants. The emergence of whole-genome sequencing methods is increasingly generating unequalled amounts of genetic data, making the need for a clear feedback policy even more

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.

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

International Nuclear Information System (INIS)

Binh, Do Quang; Huy, Ngo Quang; Hai, Nguyen Hoang

2014-01-01

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.

Translating genetic research into preventive intervention: The baseline target moderated mediator design

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George W. Howe

2016-01-01

Full Text Available In this paper we present and discuss a novel research approach, the baseline target moderated mediation (BTMM design, that holds substantial promise for advancing our understanding of how genetic research can inform prevention research. We first discuss how genetically informed research on developmental psychopathology can be used to identify potential intervention targets. We then describe the BTMM design, which employs moderated mediation within a longitudinal study to test whether baseline levels of intervention targets moderate the impact of the intervention on change in that target, and whether change in those targets mediates causal impact of preventive or treatment interventions on distal health outcomes. We next discuss how genetically informed BTMM designs can be applied to both microtrials and full-scale prevention trials. We end with a discussion of some of the advantages and limitations of this approach.

Building a Bridge Between Genetics and Outcomes Research: Application in Autism (The AutGO Study).

Science.gov (United States)

Talebizadeh, Zohreh; Shah, Ayten

2018-03-05

Concerns over the need to improve translational aspects of genetics research studies and engaging community members in the research process have been noted in the literature and raised by patient advocates. In addition to the work done by patient advocacy groups, organizations such as the Patient-Centered Outcomes Research Institute advocate for a change in the culture of research from being researcher-driven to becoming more patient-driven. Our project, Autism Genetics and Outcomes (AutGO), consists of two phases. The goal for phase I was to initiate a general discussion around the main topic (i.e., linking genetics and outcomes research). We used the Patient-Centered Outcomes Research Institute engagement approach to: (aim 1) develop a partnership with a wide range of stakeholders to assess their perspective on developing projects that use both genetics and outcomes research data/principles; (aim 2) identify barriers, facilitators, and needs to promote engagement in patient-centered genetics research; and (aim 3) distill and describe actions that may facilitate utilization of patient/parent perspectives in designing genetics research studies. In phase I, we formed a community advisory board composed of 33 participants, including outcomes and genetics researchers, clinicians, healthcare providers, patients/family members, and community/industry representatives, and convened six sessions over the 12-month period. We structured the sessions as a combination of online PowerPoint presentations, surveys, and in-person group discussions. During the sessions, we discussed topics pertaining to linking genetics and outcomes research and reviewed relevant materials, including patient stories, research projects, and existing resources. Two sets of surveys, project evaluations (k = 2) and session evaluations (k = 6), were distributed among participants. Feedback was analyzed using content analysis strategies to identify the themes and subthemes. Herein, we describe: the

The genetic composition of populations of cynomolgus macaques (Macaca fascicularis) used in biomedical research.

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Kanthaswamy, S; Ng, J; Satkoski Trask, J; George, D A; Kou, A J; Hoffman, L N; Doherty, T B; Houghton, P; Smith, D G

2013-06-01

The genetic composition of cynomolgus macaques used in biomedical research is not as well-characterized as that of rhesus macaques. Populations of cynomolgus macaques from Sumatra, Corregidor, Mauritius, Singapore, Cambodia, and Zamboanga were analyzed using 24 STRs. The Sumatran and Cambodian populations exhibited the highest allelic diversity, while the Mauritian population exhibited the lowest. Sumatran cynomolgus macaques were the most genetically similar to all others, consistent with an Indonesian origin of the species. The high diversity among Cambodian animals may result from interbreeding with rhesus macaques. The Philippine and Mauritian samples were the most divergent from other populations, the former due to separation from the Sunda Shelf by deepwater and the latter due to anthropogenic translocation and extreme founder effects. Investigators should verify their research subjects' origin, ancestry, and pedigree to minimize risks to biomedical experimentation from genetic variance stemming from close kinship and mixed ancestry as these can obscure treatment effects. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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

Translating Genetic Research into Preventive Intervention: The Baseline Target Moderated Mediator Design.

Science.gov (United States)

Howe, George W; Beach, Steven R H; Brody, Gene H; Wyman, Peter A

2015-01-01

In this paper we present and discuss a novel research approach, the baseline target moderated mediation (BTMM) design, that holds substantial promise for advancing our understanding of how genetic research can inform prevention research. We first discuss how genetically informed research on developmental psychopathology can be used to identify potential intervention targets. We then describe the BTMM design, which employs moderated mediation within a longitudinal study to test whether baseline levels of intervention targets moderate the impact of the intervention on change in that target, and whether change in those targets mediates causal impact of preventive or treatment interventions on distal health outcomes. We next discuss how genetically informed BTMM designs can be applied to both microtrials and full-scale prevention trials. We use simulated data to illustrate a BTMM, and end with a discussion of some of the advantages and limitations of this approach.

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

Directory of Open Access Journals (Sweden)

Allana Roach

Full Text Available 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.

Review Genetic research, behavioural science, and child and ...

African Journals Online (AJOL)

We describe a number of areas of recent research that are particularly relevant to child and adolescent mental health in South Africa (antisocial behaviour, disorganised attachment and depression) that are beginning to illuminate the interactions between the behavioural and genetic domains. Discussion: We argue that we ...

Sex-specific genetic effects in physical activity: results from a quantitative genetic analysis.

Science.gov (United States)

Diego, Vincent P; de Chaves, Raquel Nichele; Blangero, John; de Souza, Michele Caroline; Santos, Daniel; Gomes, Thayse Natacha; dos Santos, Fernanda Karina; Garganta, Rui; Katzmarzyk, Peter T; Maia, José A R

2015-08-01

The objective of this study is to present a model to estimate sex-specific genetic effects on physical activity (PA) levels and sedentary behaviour (SB) using three generation families. The sample consisted of 100 families covering three generations from Portugal. PA and SB were assessed via the International Physical Activity Questionnaire short form (IPAQ-SF). Sex-specific effects were assessed by genotype-by-sex interaction (GSI) models and sex-specific heritabilities. GSI effects and heterogeneity were tested in the residual environmental variance. SPSS 17 and SOLAR v. 4.1 were used in all computations. The genetic component for PA and SB domains varied from low to moderate (11% to 46%), when analyzing both genders combined. We found GSI effects for vigorous PA (p = 0.02) and time spent watching television (WT) (p < 0.001) that showed significantly higher additive genetic variance estimates in males. The heterogeneity in the residual environmental variance was significant for moderate PA (p = 0.02), vigorous PA (p = 0.006) and total PA (p = 0.001). Sex-specific heritability estimates were significantly higher in males only for WT, with a male-to-female difference in heritability of 42.5 (95% confidence interval: 6.4, 70.4). Low to moderate genetic effects on PA and SB traits were found. Results from the GSI model show that there are sex-specific effects in two phenotypes, VPA and WT with a stronger genetic influence in males.

Factors influencing parents' decision to donate their healthy infant's DNA for minimal-risk genetic research.

Science.gov (United States)

Hatfield, Linda A; Pearce, Margaret M

2014-11-01

To examine factors that influence a parent's decision to donate their healthy infant's DNA for minimal-risk genetic research. Grounded theory, using semi-structured interviews conducted with 35 postpartum mother or mother-father dyads in an urban teaching hospital. Data were collected from July 2011 to January 2012. Audiorecorded semistructured interviews were conducted in private rooms with mothers or mother-father dyads 24 to 48 hr after the birth of their healthy, full-term infant. Data-driven content analysis using selected principles of grounded theory was performed. Parents' willingness to donate their healthy infant's DNA for minimal-risk pediatric genetic research emerged as a process involving three interacting components: the parents, the scientist, and the comfort of the child embedded within the context of benefit to the child. The purpose of the study and parents' perception of their commitment of time and resources determined their willingness to participate. The scientist's ability to communicate trust in the research process influenced parents' decisions. Physical discomfort of the child shaped parents' decision to donate DNA. Parental perception of a direct benefit to their child affected their willingness to discuss genetic research and its outcomes. Significant gaps and misunderstandings in parental knowledge of pediatric genetic research may affect parental willingness to donate their healthy child's DNA. Nurses knowledgeable about the decision-making process parents utilize to donate their healthy infant's DNA for minimal-risk genetic research and the factors influencing that decision are well positioned to educate parents about the role of genetics in health and illness and reassure potential research participants of the value and safeguards in pediatric genetic research. © 2014 Sigma Theta Tau International.

NIH Researchers Find Potential Genetic Cause of Cushing Syndrome

Science.gov (United States)

... 2017 NIH researchers find potential genetic cause of Cushing syndrome Finding may lead to therapies that prevent pituitary ... mutations in the gene CABLES1 may lead to Cushing syndrome, a rare disorder in which the body overproduces ...

Molecular research on the genetic diversity of Tunisian date palm ...

African Journals Online (AJOL)

Molecular research on the genetic diversity of Tunisian date palm ( Phoenix dactylifera L.) using the random amplified microsatellite polymorphism (RAMPO) and amplified fragment length polymorphism (AFLP) methods.

Genomic research with human samples. Points of view from scientists and research subjects about disclosure of results and risks of genomic research. Ethical and empirical approach.

Science.gov (United States)

Valle Mansilla, José Ignacio

2011-01-01

Biomedical researchers often now ask subjects to donate samples to be deposited in biobanks. This is not only of interest to researchers, patients and society as a whole can benefit from the improvements in diagnosis, treatment, and prevention that the advent of genomic medicine portends. However, there is a growing debate regarding the social and ethical implications of creating biobanks and using stored human tissue samples for genomic research. Our aim was to identify factors related to both scientists and patients' preferences regarding the sort of information to convey to subjects about the results of the study and the risks related to genomic research. The method used was a survey addressed to 204 scientists and 279 donors from the U.S. and Spain. In this sample, researchers had already published genomic epidemiology studies; and research subjects had actually volunteered to donate a human sample for genomic research. Concerning the results, patients supported more frequently than scientists their right to know individual results from future genomic research. These differences were statistically significant after adjusting by the opportunity to receive genetic research results from the research they had previously participated and their perception of risks regarding genetic information compared to other clinical data. A slight majority of researchers supported informing participants about individual genomic results only if the reliability and clinical validity of the information had been established. Men were more likely than women to believe that patients should be informed of research results even if these conditions were not met. Also among patients, almost half of them would always prefer to be informed about individual results from future genomic research. The three main factors associated to a higher support of a non-limited access to individual results were: being from the US, having previously been offered individual information and considering

Informed consent for exome sequencing research in families with genetic disease: the emerging issue of incidental findings.

Science.gov (United States)

Bergner, Amanda L; Bollinger, Juli; Raraigh, Karen S; Tichnell, Crystal; Murray, Brittney; Blout, Carrie Lynn; Telegrafi, Aida Bytyci; James, Cynthia A

2014-11-01

Genomic sequencing technology is increasingly used in genetic research. Studies of informed consent for exome and genome sequencing (ES/GS) research have largely involved hypothetical scenarios or healthy individuals enrolling in population-based studies. Studies have yet to explore the consent experiences of adults with inherited disease. We conducted a qualitative interview study of 15 adults recently enrolled in a large-scale ES/GS study (11 affected adults, four parents of affected children). Our study had two goals: (1) to explore three theoretical barriers to consent for ES/GS research (interpretive/technical complexity, possibility of incidental findings, and risks of loss of privacy); and (2) to explore how interviewees experienced the consent process. Interviewees could articulate study goals and processes, describe incidental findings, discuss risks of privacy loss, and reflect on their consent experience. Few expected the study would identify the genetic cause of their condition. All elected to receive incidental findings. Interviewees acknowledged paying little attention to potential implications of incidental findings in light of more pressing goals of supporting research regarding their own medical conditions. Interviewees suggested that experience living with a genetic condition prepared them to adjust to incidental findings. Interviewees also expressed little concern about loss of confidentiality of study data. Some experienced the consent process as very long. None desired reconsent prior to return of study results. Families with inherited disease likely would benefit from a consent process in which study risks and benefits were discussed in the context of prior experiences with genetic research and genetic disease. © 2014 Wiley Periodicals, Inc.

Invited review: Genetic and genomic mouse models for livestock research

Directory of Open Access Journals (Sweden)

D. Arends

2018-02-01

Full Text Available Knowledge about the function and functioning of single or multiple interacting genes is of the utmost significance for understanding the organism as a whole and for accurate livestock improvement through genomic selection. This includes, but is not limited to, understanding the ontogenetic and environmentally driven regulation of gene action contributing to simple and complex traits. Genetically modified mice, in which the functions of single genes are annotated; mice with reduced genetic complexity; and simplified structured populations are tools to gain fundamental knowledge of inheritance patterns and whole system genetics and genomics. In this review, we briefly describe existing mouse resources and discuss their value for fundamental and applied research in livestock.

Advances in genetics and immunology: the importance of basic research to prevention of occupational diseases

International Nuclear Information System (INIS)

Omenn, G.S.

1984-01-01

Differences among workers in susceptibility to workplace exposures to environmental agents such as metals, ultraviolet radiation, and x-radiation are discussed. The distinction is made between the need for (1) monitoring for effects on the genetic material (genetic toxicology) and (2) screening for predisposing inherited traits (eco-genetics). Genetically-determined differences in susceptibility are discussed in relation to mechanisms of metabolism and of target sites. While there is not enough evidence to support routine genetic screening at this time there is common agreement that several promising areas for research on potential genetic predispositions warrant careful study. There is also reassuring evidence that productive relationships for research can be established among unions, management, and universities. 56 references, 3 figures, 7 tables

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.

Genetics of Post-Traumatic Stress Disorder: Informing Clinical Conceptualizations and Promoting Future Research

Science.gov (United States)

Nugent, Nicole R.; Amstadter, Ananda B.; Koenen, Karestan C.

2009-01-01

The purpose of this article is to provide an overview of genetic research involving post-traumatic stress disorder (PTSD). First, we summarize evidence for genetic influences on PTSD from family investigations. Second, we discuss the distinct contributions to our understanding of the genetics of PTSD permitted by twin studies. Finally, we summarize findings from molecular genetic studies, which have the potential to inform our understanding of underlying biological mechanisms for the development of PTSD. PMID:18412098

CRISPR-Cas9: a promising genetic engineering approach in cancer research

Science.gov (United States)

Ratan, Zubair Ahmed; Son, Young-Jin; Uddin, Bhuiyan Mohammad Mahtab; Yusuf, Md. Abdullah; Zaman, Sojib Bin; Kim, Jong-Hoon; Banu, Laila Anjuman

2018-01-01

Bacteria and archaea possess adaptive immunity against foreign genetic materials through clustered regularly interspaced short palindromic repeat (CRISPR) systems. The discovery of this intriguing bacterial system heralded a revolutionary change in the field of medical science. The CRISPR and CRISPR-associated protein 9 (Cas9) based molecular mechanism has been applied to genome editing. This CRISPR-Cas9 technique is now able to mediate precise genetic corrections or disruptions in in vitro and in vivo environments. The accuracy and versatility of CRISPR-Cas have been capitalized upon in biological and medical research and bring new hope to cancer research. Cancer involves complex alterations and multiple mutations, translocations and chromosomal losses and gains. The ability to identify and correct such mutations is an important goal in cancer treatment. In the context of this complex cancer genomic landscape, there is a need for a simple and flexible genetic tool that can easily identify functional cancer driver genes within a comparatively short time. The CRISPR-Cas system shows promising potential for modeling, repairing and correcting genetic events in different types of cancer. This article reviews the concept of CRISPR-Cas, its application and related advantages in oncology. PMID:29434679

Support Seeking or Familial Obligation: An Investigation of Motives for Disclosing Genetic Test Results.

Science.gov (United States)

Greenberg, Marisa; Smith, Rachel A

2016-01-01

Genetic test results reveal not only personal information about a person's likelihood of certain medical conditions but also information about the person's genetic relatives. Given the familial nature of genetic information, one's obligation to protect family members may be a motive for disclosing genetic test results, but this claim has not been methodically tested. Existing models of disclosure decision making presume self-interested motives, such as seeking social support, instead of other-interested motives, like familial obligation. This study investigated young adults' (N = 173) motives to share a genetic-based health condition, alpha-1 antitrypsin deficiency, after reading a hypothetical vignette. Results show that social support and familial obligation were both reported as motives for disclosure. In fact, some participants reported familial obligation as their primary motivator for disclosure. Finally, stronger familial obligation predicted increased likelihood of disclosing hypothetical genetic test results. Implications of these results were discussed in reference to theories of disclosure decision-making models and the practice of genetic disclosures.

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.

Perception, experience, and response to genetic discrimination in Huntington's disease: the Australian results of The International RESPOND-HD study.

Science.gov (United States)

Goh, Anita M Y; Chiu, Edmond; Yastrubetskaya, Olga; Erwin, Cheryl; Williams, Janet K; Juhl, Andrew R; Paulsen, Jane S

2013-02-01

This study examines elements of genetic discrimination among an at-risk, clinically undiagnosed Huntington's disease (HD) population. Sixty at-risk individuals, either positive or negative for the HD genetic mutation, completed a survey regarding their experiences of genetic discrimination, adverse and unfair treatment, and knowledge about existing laws and policies surrounding genetic discrimination. Sixty eight percent of participants reported feeling "Great benefit" from knowing their genetic test results. Reported benefits of knowledge included planning for the future, making decisions, and many individuals found meaning in active participation in the HD community and in advocating for themselves or families at risk for HD. Many individuals found personal meaning and a sense of community from knowledge of this information and from the ability to participate in research. Despite these positive feelings toward gene testing, results demonstrated that 33% of participants perceived experiences of genetic discrimination, which occurred repeatedly and caused great self-reported distress. Significantly, more gene-positive respondents reported experiencing incidents of genetic discrimination, compared to gene-negative respondents. At least 58 separate incidents of discrimination were reported, the number of incidents ranged from 1 to 10, with 45% of individuals (9/20 respondents) indicating more than one event. Of the most significant events of discrimination, 58% were related to insurance, 21% to employment, 16% to transactions of daily life, and 5% to relationships. Results contribute toward validation of empirical data regarding genetic discrimination.

Genetic algorithm-based neural network for accidents diagnosis of research reactors on FPGA

International Nuclear Information System (INIS)

Ghuname, A.A.A.

2012-01-01

The Nuclear Research Reactors plants are expected to be operated with high levels of reliability, availability and safety. In order to achieve and maintain system stability and assure satisfactory and safe operation, there is increasing demand for automated systems to detect and diagnose such failures. Artificial Neural Networks (ANNs) are one of the most popular solutions because of their parallel structure, high speed, and their ability to give easy solution to complicated problems. The genetic algorithms (GAs) which are search algorithms (optimization techniques), in recent years, have been used to find the optimum construction of a neural network for definite application, as one of the advantages of its usage. Nowadays, Field Programmable Gate Arrays (FPGAs) are being an important implementation method of neural networks due to their high performance and they can easily be made parallel. The VHDL, which stands for VHSIC (Very High Speed Integrated Circuits) Hardware Description Language, have been used to describe the design behaviorally in addition to schematic and other description languages. The description of designs in synthesizable language such as VHDL make them reusable and be implemented in upgradeable systems like the Nuclear Research Reactors plants. In this thesis, the work was carried out through three main parts.In the first part, the Nuclear Research Reactors accident's pattern recognition is tackled within the artificial neural network approach. Such patterns are introduced initially without noise. And, to increase the reliability of such neural network, the noise ratio up to 50% was added for training in order to ensure the recognition of these patterns if it introduced with noise.The second part is concerned with the construction of Artificial Neural Networks (ANNs) using Genetic algorithms (GAs) for the nuclear accidents diagnosis. MATLAB ANNs toolbox and GAs toolbox are employed to optimize an ANN for this purpose. The results obtained show

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

Consumers' cognitions with regard to genetically modified foods: Results of a qualitative study in four countries

DEFF Research Database (Denmark)

Bredahl, Lone

of the research presented in this paper was to gain insight into consumers' cognitions with regard to genetically modified foods to obtain a better understanding of how consumers form attitudes to genetic engineering in food production. Perceived risks and benefits of applying genetic engineering in foods were...... on consumer belief structures was investigated. 3. Means-end chain theory served as the theoretical basis for conducting qualitative interviews ­ using the laddering method ­ with 400 consumers in Denmark, Germany, the United Kingdom and Italy, using beer and yoghurt as tangible product examples. 4. Initial......, the results also indicate that general attitude domains such as food neophobia and attitude to technology may influence consumers' belief structures and eventually attitudes towards applying gene technology in food production. The extent to which thes domains play a significant role however, still remain...

Are Leadership and Management Essential for Good Research? An Interview Study of Genetic Researchers

Science.gov (United States)

Antes, Alison L.; Mart, Adelina; DuBois, James M.

2016-01-01

Principal investigators are responsible for a myriad of leadership and management activities in their work. The practices they employ to navigate these responsibilities ultimately influence the quality and integrity of research. However, leadership and management roles in research have received scant empirical examination. Semi-structured interviews with 32 National Institutes of Health (NIH)-funded genetic researchers revealed that they considered leadership and management essential for effective research, but their scientific training inadequately prepared them. We also report management practices that the researchers described employing in their labs, as well as their perceptions of a proposed intervention to enhance laboratory leadership. These findings suggest best practices for the research community, future directions for scientific training, and implications for research on leadership and management in science. PMID:27646401

Are Leadership and Management Essential for Good Research? An Interview Study of Genetic Researchers.

Science.gov (United States)

Antes, Alison L; Mart, Adelina; DuBois, James M

2016-12-01

Principal investigators are responsible for a myriad of leadership and management activities in their work. The practices they use to navigate these responsibilities ultimately influence the quality and integrity of research. However, leadership and management roles in research have received scant empirical examination. Semi-structured interviews with 32 National Institutes of Health (NIH)-funded genetic researchers revealed that they considered leadership and management essential for effective research, but their scientific training inadequately prepared them. We also report management practices that the researchers described using in their labs, as well as their perceptions of a proposed intervention to enhance laboratory leadership. These findings suggest best practices for the research community, future directions for scientific training, and implications for research on leadership and management in science.

Genetic parameters of rumination time and feed efficiency traits in primiparous Holstein cows under research and commercial conditions.

Science.gov (United States)

Byskov, M V; Fogh, A; Løvendahl, P

2017-12-01

Feed efficiency has the potential to be improved both through feeding, management, and breeding. Including feed efficiency in a selection index is limited by the fact that dry matter intake (DMI) recording is only feasible under research facilities, resulting in small data sets and, consequently, uncertain genetic parameter estimates. As a result, the need to record DMI indicator traits on a larger scale exists. Rumination time (RT), which is already recorded in commercial dairy herds by a sensor-based system, has been suggested as a potential DMI indicator. However, RT can only be a DMI indicator if it is heritable, correlates with DMI, and if the genetic parameters of RT in commercial herd settings are similar to those in research facilities. Therefore, the objective of our study was to estimate genetic parameters for RT and the related traits of DMI in primiparous Holstein cows, and to compare genetic parameters of rumination data between a research herd and 72 commercial herds. The estimated heritability values were all moderate for DMI (0.32-0.49), residual feed intake (0.23-0.36), energy-corrected milk (ECM) yield (0.49-0.70), and RT (0.14-0.44) found in the research herd. The estimated heritability values for ECM were lower for the commercial herds (0.08-0.35) than that for the research herd. The estimated heritability values for RT were similar for the 2 herd types (0.28-0.32). For the research herd, we found negative individual level correlations between RT and DMI (-0.24 to -0.09) and between RT and RFI (-0.34 to -0.03), and we found both positive and negative correlations between RT and ECM (-0.08 to 0.09). For the commercial herds, genetic correlations between RT and ECM were both positive and negative (-0.27 to 0.10). In conclusion, RT was not found to be a suitable indicator trait for feed intake and only a weak indicator of feed efficiency. Copyright © 2017 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

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. © 2015 The Hastings Center.

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. Copyright © 2016 Académie des sciences. Published by Elsevier SAS. All rights reserved.

Provenance research: investigation of genetic diversity associated with geography

Science.gov (United States)

Robert Z. Callaham

1963-01-01

Provenance in forestry refers to the population of trees growing at n particular place of origin. Provenance research defines the genetic and environmental components of phenotypic variation associated with geographic source. Information on provenance is important in assuring sources of seed to give well-adapted, productive trees and in directing breeding of...

Use of genetic algorithms in operations management. Part II - Results.

OpenAIRE

Stockton, David; Quinn, L. (Liam); Khalil, R. A. (Riham A.)

2004-01-01

The insight gained into the relationship between genetic algorithm (GA) structure and optimisation performance, through the research reported in this paper, provided the knowledge to integrate GAs with discrete event simulation which formed the output from IMI EPSRC Project GR/N05871 ‘Responsive Design and Operation of Flexible Machining Lines’ rated by EPSRC as “Tending to Internationally Leading” where industrial partners included , Unipart Group Ltd and Nigel.Shir...

Estimates of genetic parameters, genetic trends, and inbreeding in a crossbred dairy sheep research flock in the United States.

Science.gov (United States)

Murphy, T W; Berger, Y M; Holman, P W; Baldin, M; Burgett, R L; Thomas, D L

2017-10-01

For the past 2 decades, the Spooner Agriculture Research Station (ARS) of the University of Wisconsin-Madison operated the only dairy sheep research flock in North America. The objectives of the present study were to 1) obtain estimates of genetic parameters for lactation and reproductive traits in dairy ewes, 2) estimate the amount of genetic change in these traits over time, and 3) quantify the level of inbreeding in this flock over the last 20 yr. Multiple-trait repeatability models (MTRM) were used to analyze ewe traits through their first 6 parities. The first MTRM jointly analyzed milk (180-d-adjusted milk yield [180d MY]), fat (180-d-adjusted fat yield [180d FY]), and protein (180-d-adjusted protein yield [180d PY]) yields adjusted to 180 d of lactation; number of lambs born per ewe lambing (NLB); and lactation average test-day somatic cell score (LSCS). A second MTRM analyzed 180d MY, NLB, LSCS, and percentage milk fat (%F) and percentage milk protein (%P). The 3 yield traits were moderately heritable (0.26 to 0.32) and strongly genetically correlated (0.91 to 0.96). Percentage milk fat and %P were highly heritable (0.53 and 0.61, respectively) and moderately genetically correlated (0.61). Milk yield adjusted to 180 d was negatively genetically correlated with %F and %P (-0.31 and -0.34, respectively). Ewe prolificacy was not significantly ( > 0.67) genetically correlated with yield traits, %P, or LSCS but lowly negatively correlated with %F (-0.26). Lactation somatic cell score was unfavorably genetically correlated with yield traits (0.28 to 0.39) but not significantly ( > 0.09) correlated with %F, %P, and NLB. Within-trait multiple-trait models through the first 4 parities revealed that 180d MY, 180d FY, 180d PY, %F, and %P were strongly genetically correlated across parity (0.67 to 1.00). However, the genetic correlations across parity for NLB and LSCS were somewhat lower (0.51 to 0.96). Regressing predicted breeding values for 180d MY, without and with

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.

MARKETING RESEARCH OF ATTITUDES TOWARDS GENETICALLY MODIFIED CROPS BY GEORGIAN FARMERS

Directory of Open Access Journals (Sweden)

NUGZAR TODUA

2017-02-01

Full Text Available Although, genetically modified (GM crops have to be a broadly debated topic in different countries, there has been much less attention devoted to farmer attitudes towards GM crops. This paper attempts to research farmers’ insights on GM crops in Georgia through February-March 2014. An in-depth survey of 611 farmers revealed that respondents lack sufficient knowledge about genetic engineering. They tend to have a negative attitude towards GM crops and are strongly against of import and adoption of GM seeds. An empirical examination based on analysis of variance and Pearson’s correlation coefficient verified that both education and age were significant determinants of awareness of farmers about genetically engineered crops, while income used to have no significant influence on the farmers’ decision to adopt GM crops. In addition, relationship between awareness about genetic engineering and farmers’ decision to adopt GM crops has to be insignificant, as well.

Ethical issues in identifying and recruiting participants for familial genetic research.

Science.gov (United States)

Beskow, Laura M; Botkin, Jeffrey R; Daly, Mary; Juengst, Eric T; Lehmann, Lisa Soleymani; Merz, Jon F; Pentz, Rebecca; Press, Nancy A; Ross, Lainie Friedman; Sugarman, Jeremy; Susswein, Lisa R; Terry, Sharon F; Austin, Melissa A; Burke, Wylie

2004-11-01

Family-based research is essential to understanding the genetic and environmental etiology of human disease. The success of family-based research often depends on investigators' ability to identify, recruit, and achieve a high participation rate among eligible family members. However, recruitment of family members raises ethical concerns due to the tension between protecting participants' privacy and promoting research quality, and guidelines for these activities are not well established. The Cancer Genetics Network Bioethics Committee assembled a multidisciplinary group to explore the scientific and ethical issues that arise in the process of family-based recruitment. The group used a literature review as well as expert opinion to develop recommendations about appropriate approaches to identifying, contacting, and recruiting family members. We conclude that there is no single correct approach, but recommend a balanced approach that takes into account the nature of the particular study as well as its recruitment goals. Recruitment of family members should be viewed as part of the research protocol and should require appropriate informed consent of the already-enrolled participant. Investigators should inform prospective participants why they are being contacted, how information about them was obtained, and what will happen to that information if they decide not to participate. The recruitment process should also be sensitive to the fact that some individuals from families at increased genetic risk will have no prior knowledge of their risk status. These recommendations are put forward to promote further discussion about the advantages and disadvantages of various approaches to family-based recruitment. They suggest a framework for considering alternative recruitment strategies and their implications, as well as highlight areas in need of further empirical research. (c) 2004 Wiley-Liss, Inc.

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.

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

Enterprising or altruistic selves? Making up research subjects in genetics research.

Science.gov (United States)

Tutton, Richard; Prainsack, Barbara

2011-11-01

The emergence of direct-to-consumer (DTC) personal genomics companies in 2007 was accompanied by considerable media attention and criticism from clinical geneticists and other health professionals, regulators, policy advisors, and ethicists. As well as offering genetic testing services, some firms are also engaged in building their own databases and conducting research with the data obtained from their customers. In this paper, we examine how one of these companies, 23andMe, is creating a certain kind of 'research subject' in opposition to that constituted in conventional forms of disease research. Drawing on debates about neoliberalism, contemporary health discourses and subjectivity, we consider two kinds of subjectivities produced through the discursive and material practices of 23andMe and UK Biobank, namely, 'enterprising' and 'altruistic' selves. We argue that the 23andMe model promotes the idea that curiosity about one's genome on the one hand, and participation in research on the other, are not only compatible but complementary aspects of being an entrepreneurial subject of contemporary health and medicine framed by the technologies of web 2.0. © 2011 The Authors. Sociology of Health & Illness © 2011 Foundation for the Sociology of Health & Illness/Blackwell Publishing Ltd.

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. Copyright © 2016. Published by Elsevier Ireland Ltd.

Exploring Asian Indian and Pakistani views about cancer and participation in cancer genetics research: toward the development of a community genetics intervention.

Science.gov (United States)

Leader, Amy E; Mohanty, Salini; Selvan, Preethi; Lum, Ray; Giri, Veda N

2018-01-01

Cancer is a leading cause of mortality among the three million Asian Indian/Pakistanis (AIPs) in the USA. AIPs have traditionally been underrepresented in cancer-related research, although reasons remain largely unexplored. We sought to understand AIP's awareness and perceptions of cancer to improve their participation in risk assessment and cancer genetics research. Four focus groups, stratified by gender and birthplace (US-born vs. foreign-born), were held at an AIP cultural center. Discussions focused on knowledge and awareness of cancer risk; how AIP culture influences cancer perceptions; access to health care services for cancer screening, diagnosis, or treatment; and willingness to or experiences with participating in cancer genetics research. Sessions were audio-recorded, transcribed verbatim, and content analyzed using NVivo ® 11 for dominant themes. Thirty-two AIP adults participated in a focus group. Information on family cancer history is challenging to obtain due to the desire for privacy, cancer stigma, and loss of medical records. Interest in genetic testing for cancer risk was mixed: some were in favor of knowing their personal risk, yet many noted that future generations in their family would benefit more by knowing their risk. Participants felt that the AIP community has largely been overlooked in recruitment efforts for research studies. Recommendations for improving recruitment efforts included partnering with community events and festivities, posting culturally and linguistically relevant recruitment materials, and focusing on population-wide health improvement. Understanding the culture and perceptions of AIPs, separate from Asian Americans at large, will allow for more tailored approaches for including this population in cancer genetics research.

Review: Prevalence and co-occurrence of addictions in US ethnic/racial groups: Implications for genetic research.

Science.gov (United States)

Luczak, Susan E; Khoddam, Rubin; Yu, Sheila; Wall, Tamara L; Schwartz, Anna; Sussman, Steve

2017-08-01

We conducted a review of the prevalence and co-occurrence of 12 types of addictions in US ethnic/racial groups and discuss the implications of the results for genetic research on addictions. We utilized MEDLINE and PsycINFO databases to review the literature on alcohol, tobacco, marijuana, illicit drugs, gambling, eating/food, internet, sex, love, exercise, work, and shopping. We present results for each addiction based on total US prevalence, prevalence within ethnic groups, and co-occurrence of addictions among ethnic groups when available. This review indicates very little research has examined the interrelationships of addictive behaviors among US ethnic groups. The studies that exist have focused nearly exclusively on comorbidity of substances and gambling behaviors. Overall findings suggest differences among US ethnic groups in prevalence of addictions and in prevalence of addiction among those who use substances or engage in gambling. Almost no ethnic group comparisons of other addictive behaviors including eating/food, internet, love, sex, exercise, work, and shopping were identified in the literature. Despite large-scale research efforts to examine alcohol and substance use disorders in the United States, few studies have been published that examine these addictive behaviors among ethnic groups, and even fewer examine co-occurrence and comorbidity with other addictions. Even with the limited studies, these findings have implications for genetic research on addictive behaviors. We include a discussion of these implications, including issues of population stratification, disaggregation, admixture, and the interplay between genetic and environmental factors in understanding the etiology and treatment of addictions. (Am J Addict 2017;26:424-436). © 2016 American Academy of Addiction Psychiatry.

Participants' perceptions of research benefits in an African genetic epidemiology study.

Science.gov (United States)

Appiah-Poku, John; Newton, Sam; Kass, Nancy

2011-12-01

  Both the Council for International Organization of Medical Sciences and the Helsinki Declaration emphasize that the potential benefits of research should outweigh potential harms; consequently, some work has been conducted on participants' perception of benefits in therapeutic research. However, there appears to be very little work conducted with participants who have joined non-therapeutic research. This work was done to evaluate participants' perception of benefits in a genetic epidemiological study by examining their perception of the potential benefits of enrollment.   In-depth interviews lasting between 45 and 60 minutes were conducted with a convenient sample of 25 ill patients and 25 healthy accompanying relatives enrolled in a genetic epidemiological study of tuberculosis. Recorded interviews were transcribed and analyzed using content analysis.   Participants perceived that research was beneficial and some of the benefits included the generation of new knowledge, finding the cause of diseases, as well as the control, eradication and prevention of disease. Some thought that research was risky whilst others thought that the benefits outweighed the risks.   Participants perceived research to be beneficial and most of them thought that, though it was risky, the benefits outweighed the risks. It is our view that researchers need to give serious consideration to participant's perception of benefits in designing their consent forms, to see to the fulfillment of achievable goals. © 2011 Blackwell Publishing Ltd.

First results of genetic algorithm application in ML image reconstruction in emission tomography

International Nuclear Information System (INIS)

Smolik, W.

1999-01-01

This paper concerns application of genetic algorithm in maximum likelihood image reconstruction in emission tomography. The example of genetic algorithm for image reconstruction is presented. The genetic algorithm was based on the typical genetic scheme modified due to the nature of solved problem. The convergence of algorithm was examined. The different adaption functions, selection and crossover methods were verified. The algorithm was tested on simulated SPECT data. The obtained results of image reconstruction are discussed. (author)

[Genetic predisposition to breast and ovarian cancer: importance of test results].

Science.gov (United States)

Julian-Reynier, Claire

2011-01-01

Oncogenetic consultations and predictive BRCA1/2 testing are intertwined processes and the specific impact of these genetic tests if performed alone through direct-to-consumer offers remains unknown. Noteworthy, the expectations of patients vary with their own status, whether they are affected or not by breast cancer at the time genetic testing is performed. The prescription of genetic tests for BCRA mutations has doubled in France between 2003 and 2009. There is a consensus on the fact that genetic results disclosure led to a significant increase in the knowledge and understanding that the patients have of the genetic risk and also changed the medical follow-up of these patients. Evaluating the psychological burden of tests disclosure did not reveal any major distress in patients who are followed by high-quality multidisciplinary teams. Longitudinal cohorts studies have now evaluated the perception and behaviour of these patients, and observed sociodemographic as well as geographic and psychosocial differences both in the acceptation of prophylactic strategies such as surgery, and time to surgery. © 2011 médecine/sciences - Inserm / SRMS.

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…

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.

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.

Communicating research results

Science.gov (United States)

Jan Fryk

1999-01-01

A research finding is of little value until it is known and applied. Hence) communication of results should be regarded as a natural, integrated part of research) and thus addressed in the research plans from the very beginning. A clearly defined information strategy and operational goals for information activities are needed for successful communication. For maximum...

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. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

Access and benefits sharing of genetic resources and associated traditional knowledge in northern Canada: understanding the legal environment and creating effective research agreements

Directory of Open Access Journals (Sweden)

Janis Geary

2013-08-01

Full Text Available Background. Research in northern Canada focused on Aboriginal peoples has historically benefited academia with little consideration for the people being researched or their traditional knowledge (TK. Although this attitude is changing, the complexity of TK makes it difficult to develop mechanisms to preserve and protect it. Protecting TK becomes even more important when outside groups become interested in using TK or materials with associated TK. In the latter category are genetic resources, which may have commercial value and are the focus of this article. Objective. This article addresses access to and use of genetic resources and associated TK in the context of the historical power-imbalances in research relationships in Canadian north. Design. Review. Results. Research involving genetic resources and TK is becoming increasingly relevant in northern Canada. The legal framework related to genetic resources and the cultural shift of universities towards commercial goals in research influence the environment for negotiating research agreements. Current guidelines for research agreements do not offer appropriate guidelines to achieve mutual benefit, reflect unequal bargaining power or take the relationship between parties into account. Conclusions. Relational contract theory may be a useful framework to address the social, cultural and legal hurdles inherent in creating research agreements.

Seventeen years of research on genetics of resistance to Aphanomyces root rot of pea

Science.gov (United States)

Aphanomyces root rot, caused by the oomycete Aphanomyces euteiches, is a major soil borne disease of pea in many countries. Genetic resistance is considered to be a main way to control the disease. Since 2000, INRA has engaged a long-term research program to study genetic resistance to A. euteiches ...

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...

Research on interactive genetic-geological models to evaluate favourability for undiscovered uranium resources

International Nuclear Information System (INIS)

Finch, W.I.; Granger, H.C.; Lupe, R.; McCammon, R.B.

1980-01-01

Current methods of evaluating favourability for undiscovered uranium resources are unduly subjective, quite possibly inconsistent and, as a consequence, of questionable reliability. This research is aimed at reducing the subjectivity and increasing the reliability by designing an improved method that depends largely on geological data and their statistical frequency of occurrence. This progress report outlines a genetic approach to modelling the geological factors that controlled uranium mineralization in order to evaluate the favourability for the occurrence of undiscovered uranium deposits of the type modelled. A genetic model is constructed from all the factors that describe the processes, in chronological sequence, that formed uranium deposits thought to have a common origin. The field and laboratory evidence for the processes constitute a geologic-occurrence base that parallels the chronological sequence of events. The genetic model and the geologic-occurrence base are portrayed as two columns of an interactive matrix called the ''genetic-geologic model''. For each column, eight chronological stages are used to describe the overall formation of the uranium deposits. These stages consist of (1) precursor processes; (2) host-rock formation; (3) preparation of host-rock; (4) uranium-source development; (5) transport of uranium; (6) primary uranium deposition; (7) post-deposition modification; and (8) preservation. To apply the genetic-geological model to evaluate favourability, a question is posed that determines the presence or absence of each attribute listed under the geologic-occurrence base. By building a logic circuit of the attributes according to either their essential or non-essential nature, the resultant match between a well-documented control area and the test area may be determined. The degree of match is a measure of favourability for uranium occurrence as hypothesized in the genetic model

International Szent-Györgyi Prize for Progress in Cancer Research: basic and translational research recognition : Mary-Claire King received the 2016 Prize for her pioneering research that demonstrated the first evidence of genetic predisposition to breast cancer.

Science.gov (United States)

Hartmann, Hali; Zhao, Jie; Ba, Sujuan

2017-11-21

The Szent-Györgyi Prize for Progress in Cancer Research is a prestigious scientific award sponsored by the National Foundation for Cancer Research (NFCR)-a leading cancer research charitable organization in the United States that supports innovative cancer research globally with the ultimate goal to cure cancer. The coveted Szent-Györgyi Prize annually honors a scientist whose seminal discovery or body of work has resulted in, or led toward, notable contributions to cancer prevention, diagnosis, or treatment; and the discovery has had a high direct impact of saving people's lives. In addition, the prize promotes public awareness of the importance of basic cancer research and encourages the sustained investment needed to accelerate the translation of these research discoveries into new cancer treatments. In 2016, NFCR's Szent-Györgyi Prize Selection Committee was unanimous in its decision to recognize an icon in human disease genetics, Dr. Mary-Claire King, for her pioneering research that demonstrated the first evidence of genetic predisposition to breast cancer. Her proof of existence of BRCA1 gene and its location has made genetic screening for breast and ovarian cancers possible, saving lives of many people who are at high risk with inherited BRCA1 mutations.

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.

Decisional Outcomes of Maternal Disclosure of BRCA1/2 Genetic Test Results to Children

Science.gov (United States)

Tercyak, Kenneth P.; Mays, Darren; DeMarco, Tiffani A.; Peshkin, Beth N.; Valdimarsdottir, Heiddis B.; Schneider, Katherine A.; Garber, Judy E.; Patenaude, Andrea Farkas

2013-01-01

Background Although BRCA1/2 genetic testing is discouraged in minors, mothers may disclose their own results to their children. Factors affecting patients’ disclosure decisions and patient outcomes of disclosure are largely unknown. Methods Mothers (N = 221) of children ages 8-21 enrolled in this prospective study of family communication about cancer genetic testing. Patients underwent BRCA1/2 genetic counseling and testing, and completed standardized behavioral assessments prior to and 1-month following receipt of their results. Results Most patients (62.4%) disclosed BRCA1/2 test results to their child. Patients were more likely to disclose if they received negative or uninformative vs. positive results (OR = 3.11; 95% CI = 1.11 - 8.71; P = .03), their child was ≥ 13 years of age vs. younger (OR = 5.43; 95% CI = 2.18 - 13.53; P Post-decision satisfaction about disclosure was lowest among nondisclosing patients (P information is perceived as beneficial. Satisfaction with disclosure decision-making remains lowest among nondisclosing and conflicted patients. Family communication decision support adjuncts to genetic counseling are needed to help ameliorate these effects. Impact This study describes the prevalence of family communication about maternal BRCA1/2 genetic testing with minor children, and decisions and outcomes of disclosure. PMID:23825307

Critical Need for Family-Based, Quasi-Experimental Designs in Integrating Genetic and Social Science Research

Science.gov (United States)

Lahey, Benjamin B.; Turkheimer, Eric; Lichtenstein, Paul

2013-01-01

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. PMID:23927516

Public and Biobank Participant Attitudes toward Genetic Research Participation and Data Sharing

OpenAIRE

Lemke, A.A.; Wolf, W.A.; Hebert-Beirne, J.; Smith, M.E.

2010-01-01

Research assessing attitudes toward consent processes for high-throughput genomic-wide technologies and widespread sharing of data is limited. In order to develop a better understanding of stakeholder views toward these issues, this cross-sectional study assessed public and biorepository participant attitudes toward research participation and sharing of genetic research data. Forty-nine individuals participated in 6 focus groups; 28 in 3 public focus groups and 21 in 3 NUgene biorepository pa...

Patient Electronic Health Records as a Means to Approach Genetic Research in Gastroenterology.

Science.gov (United States)

Ananthakrishnan, Ashwin N; Lieberman, David

2015-10-01

Electronic health records (EHRs) are being increasingly utilized and form a unique source of extensive data gathered during routine clinical care. Through use of codified and free text concepts identified using clinical informatics tools, disease labels can be assigned with a high degree of accuracy. Analysis linking such EHR-assigned disease labels to a biospecimen repository has demonstrated that genetic associations identified in prospective cohorts can be replicated with adequate statistical power and novel phenotypic associations identified. In addition, genetic discovery research can be performed utilizing clinical, laboratory, and procedure data obtained during care. Challenges with such research include the need to tackle variability in quality and quantity of EHR data and importance of maintaining patient privacy and data security. With appropriate safeguards, this novel and emerging field of research offers considerable promise and potential to further scientific research in gastroenterology efficiently, cost-effectively, and with engagement of patients and communities. Copyright © 2015 AGA Institute. Published by Elsevier Inc. All rights reserved.

Impact of Genetic Counseling and Connexin-26 and Connexin-30 Testing on Deaf Identity and Comprehension of Genetic Test Results in a Sample of Deaf Adults: A Prospective, Longitudinal Study

Science.gov (United States)

Palmer, Christina G. S.; Boudreault, Patrick; Baldwin, Erin E.; Sinsheimer, Janet S.

2014-01-01

Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community. This study specifically evaluated the effect of genetic counseling and Connexin-26 and Connexin-30 genetic test results on participants' deaf identity and understanding of their genetic test results. Connexin-26 and Connexin-30 genetic testing was offered to participants in the context of linguistically and culturally appropriate genetic counseling. Questionnaire data collected from 209 deaf adults at four time points (baseline, immediately following pre-test genetic counseling, 1-month following genetic test result disclosure, and 6-months after result disclosure) were analyzed. Four deaf identity orientations (hearing, marginal, immersion, bicultural) were evaluated using subscales of the Deaf Identity Development Scale-Revised. We found evidence that participants understood their specific genetic test results following genetic counseling, but found no evidence of change in deaf identity based on genetic counseling or their genetic test results. This study demonstrated that culturally and linguistically appropriate genetic counseling can improve deaf clients' understanding of genetic test results, and the formation of deaf identity was not directly related to genetic counseling or Connexin-26 and Connexin-30 genetic test results. PMID:25375116

Assessment of genetic results of ionizing radiation effect on hydrobionts population

International Nuclear Information System (INIS)

Pechkurenkov, V.L.; Pokrovskaya, L.G.; Fetisov, A.N.

1987-01-01

The effect of dose value and rate on genetic results of chronic radiation with the low dose rate is estimated. At such irradiation the yield of abberant anaphases of embryos is determined by the dose value and it does not depend on the dose rate. The threshold radiation dose rate of the developing fish roe equals 2-3 cGy/h when ignoring the medium modifying factors. The estimation of possible limits of modification of genetic effects of radiation with the low rate when changing environmental factors is given. The model allowing to forecast the appearance of genetic effects of radiation with the low dose rate is constructed. The correspondence between the data obtained in laboratory experiments using organisms living in water reservoirs contaminated experimentally by radionuclides is marked

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

OpenAIRE

Gebhardt, Christiane

2016-01-01

Key message 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. Abstract 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...

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

STATEMENT: In naming population groups, we think a chief aim is to use terms that the group members use themselves, or find familiar and comfortable. The terms used in this manuscript to describe populations are as historically correct as possible and are chosen so as not to offend any population group. Two of the authors (DCP and REvdR) belong to the Coloured population, with one of the authors (REvdR) having contributed extensively to current literature on the history of the Coloured people of South Africa and served as Vice-President of the South African Institute of Race Relations. According to the 2001 South African census (http://www.statssa.gov.za/census01/HTML/CInBrief/CIB2001.pdf), "Statistics South Africa continues to classify people by population group, in order to monitor progress in moving away from the apartheid-based discrimination of the past. However, membership of a population group is now based on self-perception and self-classification, not on a legal definition. Five options were provided on the questionnaire, Black African, Coloured, Indian or Asian, White and Other. Responses in the category 'Other' were very few and were therefore imputed". We have elected to use the term Bushmen rather than San to refer to the hunter-gatherer people of Southern Africa. Although they have no collective name for themselves, this decision was based on the term Bushmen (or Bossiesman) being the more familiar to the communities themselves, while the term San is the more accepted academic classification. Understanding human genetic structure has fundamental implications for understanding the evolution and impact of human diseases. In this study, we describe the complex genetic substructure of a unique and recently admixed population arising approximately 350 years ago as a direct result of European settlement in South Africa. Analysis was performed using over 900 000 genome-wide single nucleotide polymorphisms in 20 unrelated ancestry-informative marker selected

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

2015-08-01

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. Copyright © 2015 by the Genetics Society of America.

Standards for the Reporting of Genetic Counseling Interventions in Research and Other Studies (GCIRS): an NSGC Task Force Report.

Science.gov (United States)

Hooker, Gillian W; Babu, D; Myers, M F; Zierhut, H; McAllister, M

2017-06-01

As the demand for evidence to support the value of genetic counseling increases, it is critical that reporting of genetic counseling interventions in research and other types of studies (e.g. process improvement or service evaluation studies) adopt greater rigor. As in other areas of healthcare, the appraisal, synthesis, and translation of research findings into genetic counseling practice are likely to be improved if clear specifications of genetic counseling interventions are reported when studies involving genetic counseling are published. To help improve reporting practices, the National Society of Genetic Counselors (NSGC) convened a task force in 2015 to develop consensus standards for the reporting of genetic counseling interventions. Following review by the NSGC Board of Directors, the NSGC Practice Guidelines Committee and the editorial board of the Journal of Genetic Counseling, 23 items across 8 domains were proposed as standards for the reporting of genetic counseling interventions in the published literature (GCIRS: Genetic Counseling Intervention Reporting Standards). The authors recommend adoption of these standards by authors and journals when reporting studies involving genetic counseling interventions.

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. 2016 FRAME.

Genetic Correlations between Young Horse and Dressage Competition Results in Danish Warmblood Horses

DEFF Research Database (Denmark)

Jönsson, Lina Johanna Maria; Christiansen, Karina; Holm, Maiken

2014-01-01

.13˗0.48) than the breeding goal trait of dressage competition results (0.16). Young horse results showed medium high to high genetic correlations to dressage competition results (0.32˗0.91) where most recorded young horse gait- and conformation scores contributed with considerable information to future dressage...... competition results. If considering both accuracy of each young horse trait and genetic correlation to dressage competition results, as rg×rIA, the best young horse indicator traits for future performance were capacity, trot, canter, and rideability, all under own rider. Most important conformation traits...

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

Genetic secrets: Protecting privacy and confidentiality in the genetic era. Final report

Energy Technology Data Exchange (ETDEWEB)

Rothstein, M.A. [ed.

1998-09-01

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.

Pharmacogenomics Bias - Systematic distortion of study results by genetic heterogeneity

Directory of Open Access Journals (Sweden)

Zietemann, Vera

2008-04-01

Full Text Available Background: Decision analyses of drug treatments in chronic diseases require modeling the progression of disease and treatment response beyond the time horizon of clinical or epidemiological studies. In many such models, progression and drug effect have been applied uniformly to all patients; heterogeneity in progression, including pharmacogenomic effects, has been ignored. Objective: We sought to systematically evaluate the existence, direction and relative magnitude of a pharmacogenomics bias (PGX-Bias resulting from failure to adjust for genetic heterogeneity in both treatment response (HT and heterogeneity in progression of disease (HP in decision-analytic studies based on clinical study data. Methods: We performed a systematic literature search in electronic databases for studies regarding the effect of genetic heterogeneity on the validity of study results. Included studies have been summarized in evidence tables. In the case of lacking evidence from published studies we sought to perform our own simulation considering both HT and HP. We constructed two simple Markov models with three basic health states (early-stage disease, late-stage disease, dead, one adjusting and the other not adjusting for genetic heterogeneity. Adjustment was done by creating different disease states for presence (G+ and absence (G- of a dichotomous genetic factor. We compared the life expectancy gains attributable to treatment resulting from both models and defined pharmacogenomics bias as percent deviation of treatment-related life expectancy gains in the unadjusted model from those in the adjusted model. We calculated the bias as a function of underlying model parameters to create generic results. We then applied our model to lipid-lowering therapy with pravastatin in patients with coronary atherosclerosis, incorporating the influence of two TaqIB polymorphism variants (B1 and B2 on progression and drug efficacy as reported in the DNA substudy of the REGRESS

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

Statistical methods and challenges in connectome genetics

KAUST Repository

Pluta, Dustin; Yu, Zhaoxia; Shen, Tong; Chen, Chuansheng; Xue, Gui; Ombao, Hernando

2018-01-01

The study of genetic influences on brain connectivity, known as connectome genetics, is an exciting new direction of research in imaging genetics. We here review recent results and current statistical methods in this area, and discuss some

The Collaborative Cross Resource for Systems Genetics Research of Infectious Diseases.

Science.gov (United States)

Maurizio, Paul L; Ferris, Martin T

2017-01-01

An increasing body of evidence highlights the role of host genetic variation in driving susceptibility to severe disease following pathogen infection. In order to fully appreciate the importance of host genetics on infection susceptibility and resulting disease, genetically variable experimental model systems should be employed. These systems allow for the identification, characterization, and mechanistic dissection of genetic variants that cause differential disease responses. Herein we discuss application of the Collaborative Cross (CC) panel of recombinant inbred strains to study viral pathogenesis, focusing on practical considerations for experimental design, assessment and analysis of disease responses within the CC, as well as some of the resources developed for the CC. Although the focus of this chapter is on viral pathogenesis, many of the methods presented within are applicable to studies of other pathogens, as well as to case-control designs in genetically diverse populations.

The Y chromosome as the most popular marker in genetic genealogy benefits interdisciplinary research.

Science.gov (United States)

Calafell, Francesc; Larmuseau, Maarten H D

2017-05-01

The Y chromosome is currently by far the most popular marker in genetic genealogy that combines genetic data and family history. This popularity is based on its haploid character and its close association with the patrilineage and paternal inherited surname. Other markers have not been found (yet) to overrule this status due to the low sensitivity and precision of autosomal DNA for genetic genealogical applications, given the vagaries of recombination, and the lower capacities of mitochondrial DNA combined with an in general much lower interest in maternal lineages. The current knowledge about the Y chromosome and the availability of markers with divergent mutation rates make it possible to answer questions on relatedness levels which differ in time depth; from the individual and familial level to the surnames, clan and population level. The use of the Y chromosome in genetic genealogy has led to applications in several well-established research disciplines; namely in, e.g., family history, demography, anthropology, forensic sciences, population genetics and sex chromosome evolution. The information obtained from analysing this chromosome is not only interesting for academic scientists but also for the huge and lively community of amateur genealogists and citizen-scientists, fascinated in analysing their own genealogy or surname. This popularity, however, has also some drawbacks, mainly for privacy reasons related to the DNA donor, his close family and far-related namesakes. In this review paper we argue why Y-chromosomal analysis and its genetic genealogical applications will still perform an important role in future interdisciplinary research.

Research progress in the genetics of hyperuricaemia and gout.

Science.gov (United States)

Zheng, Min; Ma, Jun-wu

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.

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

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/.

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

Science.gov (United States)

Jung, Sook; Jesudurai, Christopher; Staton, Margaret; Du, Zhidian; Ficklin, Stephen; Cho, Ilhyung; Abbott, Albert; Tomkins, Jeffrey; Main, Dorrie

2004-09-09

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. 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. 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/.

Genetic View To Stroke Occurrence

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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.

The genetic variability of the Podolica cattle breed from the Gargano area. Preliminary results

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Dario Cianci

2010-01-01

Full Text Available The Podolica cattle breed is autochthonous of Southern Italy and denoted by its particular rusticity. This study presents the preliminary results of the genetic characterization of the Podolica breed using DNA STR markers. A total of 20 microsatellite loci were analysed in 79 individuals reared in the Gargano area. Number of polymorphisms, allele fre- quencies, deviations from Hardy-Weinberg proportions, linkage disequilibrium between loci and genetic similarities between animals were calculated. The results showed a high deficiency of heterozygotes, the observed mean of het- erozygosis being 0.449, whereas the expected mean was 0.766. Many markers showed also deviations from the Hardy- Weinberg proportions and significant linkage disequilibrium between loci. However the genetic similarity within the pop- ulation was low (0.281 and the average number of alleles per locus was high (10, representing a high genetic vari- ability. In order to explain these results, a stratification of the breed in sub-populations with a high interior genetic homo- geneity but markedly differentiated one from each other could be hypothesized; this situation probably derived from non- random mating within each herd (consanguinity and from the lack of exchange of genetic material between the herds. A further study is needed on a wider sample and extending the analysis to FAO-ISAG microsatellite panel in order to con- firm this hypothesis. This could eventually provide the information necessary for the correct management of the repro- ductive schemes and for genomic traceability of meat production.

School-Level Genetic Variation Predicts School-Level Verbal IQ Scores: Results from a Sample of American Middle and High Schools

Science.gov (United States)

Beaver, Kevin M.; Wright, John Paul

2011-01-01

Research has consistently revealed that average IQ scores vary significantly across macro-level units, such as states and nations. The reason for this variation in IQ, however, has remained at the center of much controversy. One of the more provocative explanations is that IQ across macro-level units is the result of genetic differences, but…

Understanding of BRCA1/2 genetic tests results: the importance of objective and subjective numeracy.

Science.gov (United States)

Hanoch, Yaniv; Miron-Shatz, Talya; Rolison, Jonathan J; Ozanne, Elissa

2014-10-01

The majority of women (71%) who undergo BRCA1/2 testing-designed to identify genetic mutations associated with increased risk of cancer-receive results that are termed 'ambiguous' or 'uninformative negative'. How women interpret these results and the association with numerical ability was examined. In this study, 477 women at increased risk for breast and ovarian cancer were recruited via the Cancer Genetics Network. They were presented with information about the four different possible BRCA1/2 test results-positive, true negative, ambiguous and uninformative negative-and asked to indicate which of six options represents the best response. Participants were then asked which treatment options they thought a woman receiving the results should discuss with her doctor. Finally, participants completed measures of objective and subjective numeracy. Almost all of the participants correctly interpreted the positive and negative BRCA1/2 genetic test results. However, they encountered difficulties interpreting the uninformative and ambiguous BRCA1/2 genetic test results. Participants were almost equally likely to think either that the woman had learned nothing from the test result or that she was as likely to develop cancer as the average woman. Highly numerate participants were more likely to correctly interpret inconclusive test results (ambiguous, OR = 1.62; 95% CI [1.28, 2.07]; p psychological ramifications of genetic testing, healthcare professionals should consider devoting extra effort to ensuring proper comprehension of ambiguous and uninformative negative test results by women. Copyright © 2014 John Wiley & Sons, Ltd.

2008 NWFSC Tidal Freshwater Genetics Results

Energy Technology Data Exchange (ETDEWEB)

David Teel

2009-05-01

Genetic Analysis of Juvenile Chinook Salmon for inclusion in 'Ecology of Juvenile Salmon in Shallow Tidal Freshwater Habitats in the Vicinity of the Sandy River Delta, Lower Columbia River, 2008. Annual Report to Bonneville Power Administration, Contract DE-AC05-76RL01830.'

Aquaculture-oriented genetic researches in abalone: Current status ...

African Journals Online (AJOL)

Hybridization, triploidization and genetic mapping were also briefly reviewed as aquaculture-oriented genetic techniques to improve growth and other commercially important traits. Cryopreservation and other biotechnologies potentially applicable on genetic improvement were also briefly mentioned as supporting tools for ...

Genetic Research and Hungarian "Deep Ancestry"

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Nándor Dreisziger

2011-01-01

Full Text Available The past few decades saw the birth of the new science of genetics that can be used not only for medical purposes but also for the study of the past. Geneticists were quick to begin applying this science to the examination of Hungarian history, especially the subject of Hungarian origins. The purpose of this paper is to acquaint the reader with some of these studies. One study this paper will examine is itself a review of the scientific literature of early genetic studies on Hungarian origins. Other studies evaluated in this paper will be the English-language scientific publications of a team of Hungarian geneticists who over the last several years have studied the genetic inter-relatedness of 10th century and present-day Hungarian populations in the Middle Danube Valley of Central Europe. The paper comes to the conclusion that while very early genetic inquiries into Hungarian origins were often fault-ridden and are of little use now, more recent studies suggest that the currently held explanations of Hungarian ethnogenesis — especially the story of the so-called Hungarian conquest of the late 9th century — might very well be subjected to a fundamental re-assessment.

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

DEFF Research Database (Denmark)

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

2017-01-01

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......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...

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.

Institute for Genetics and Toxicology of Fission Materials. Annual report on research and development work in 1989

International Nuclear Information System (INIS)

1990-03-01

The report covers the research results achieved in 1989 in the following subject fields: Gene repair and gene regulation, biological carcinogenesis, molecular genetics of eukaryontic genes, radiotoxicology of the actinides, cellular inhalation toxicology, cellular and molecular toxicology, and in vitro fractionation and speciation of actinides. A list of publications of the Institute in 1989 shows printed original reports and conference papers. (MG) [de

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.

Regulating human genetic research in Latin America: a race to the top or a race together?

Directory of Open Access Journals (Sweden)

Rosario Isasi

2016-05-01

Full Text Available Balancing the therapeutic potential of genetic science with the adoption of policies that reflect social values has proven to be a formidable task for Latin American countries. This essay presents some reflections on human genetics research policy in Latin America and explores a path forward for policy development.

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...

Statistical methods and challenges in connectome genetics

KAUST Repository

Pluta, Dustin

2018-03-12

The study of genetic influences on brain connectivity, known as connectome genetics, is an exciting new direction of research in imaging genetics. We here review recent results and current statistical methods in this area, and discuss some of the persistent challenges and possible directions for future work.

A Comparative Analysis of Indigenous Research Guidelines to Inform Genomic Research in Indigenous Communities

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Jay Maddock

2012-05-01

Full Text Available BACKGROUND: Genetic research has potential benefits for improving health, such as identifying molecular characteristics of a disease, understanding disease prevalence and treatment, and developing treatments tailored to patients based on individual genetic characteristics of their disease. Indigenous people are often targeted for genetic research because genes are easier to study in communities that practice endogamy. Therefore, populations perceived to be more homogenous, such as Indigenous peoples, are ideal for genetic studies. While Indigenous communities remain the focal point of many genomic studies, some result in harm and unethical practice. Unfortunately, the harms of poorly formulated and unethical research involving Indigenous people have created barriers to participation that prevent critical and lifesaving research. These harms have led a number of Indigenous communities to develop guidelines for engaging with researchers to assist in safely bridging the gap between genetic research and Indigenous peoples.SPECIFIC AIMS: The specific aims of this study were: (1 to conduct an international review and comparison of Indigenous research guidelines that highlight topics regarding genetics and use of biological samples and identify commonalities and differences among ethical principles of concern to Indigenous peoples; and (2 develop policy recommendations for Indigenous populations interested in creating formal policies around the use of genetic information and protection of biological samples using data from specific aim 1.METHODS: A comparative analysis was performed to identify best research practices and recommendations for Indigenous groups from four countries: Canada, New Zealand, Australia, and the United States. The analysis examined commonalities in political relationships, which support self-determination among these Indigenous communities to control their data. Current international Indigenous guidelines were analyzed to review

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.

Intention to seek information on cancer genetics

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J.E. Andrews

2005-01-01

Full Text Available Objective. The public has a high interest in seeking personal genetic information, which holds implications for health information seeking research and health care policy. Rapid advances in cancer genetics research promise early detection, prevention and treatment, yet consumers may have greater difficulty finding and using the information they may need to make informed decisions regarding their personal health and the future of their families. Design. A statewide telephone survey was conducted of non-institutionalized Kentucky residents 18 years of age or older to investigate factors associated with the intention to seek cancer genetics information, including the need for such information seeking help. Results. The results show that intention to seek cancer genetics information, if testing were readily available, is moderately high (62.5% of those responding; n=835, and that status as a racial minority, the perception that cancer runs in one's family, and frequent worrying about cancer risk are statistically significant predictors of intent to seek genetics information. Conclusion. . We argue that an already complex health information environment will be even more difficult for individuals to navigate as genetic research becomes more ubiquitous in health care. An increase in demand for genetics information in various forms, as suggested by these results and those of other studies, implies that enduring intervention strategies are needed to help individuals acquire necessary health information literacy skills, with special attention given to racial minorities.

Recruitment and Participation of Recreational Runners in a Large Epidemiological and Genetic Research Study: Retrospective Data Analysis.

Science.gov (United States)

Manzanero, Silvia; Kozlovskaia, Maria; Vlahovich, Nicole; Hughes, David C

2018-05-23

With the increasing capacity for remote collection of both data and samples for medical research, a thorough assessment is needed to determine the association of population characteristics and recruitment methodologies with response rates. The aim of this research was to assess population representativeness in a two-stage study of health and injury in recreational runners, which consisted of an epidemiological arm and genetic analysis. The cost and success of various classical and internet-based methods were analyzed, and demographic representativeness was assessed for recruitment to the epidemiological survey, reported willingness to participate in the genetic arm of the study, actual participation, sample return, and approval for biobank storage. A total of 4965 valid responses were received, of which 1664 were deemed eligible for genetic analysis. Younger age showed a negative association with initial recruitment rate, expressed willingness to participate in genetic analysis, and actual participation. Additionally, female sex was associated with higher initial recruitment rates, and ethnic origin impacted willingness to participate in the genetic analysis (all P<.001). The sharp decline in retention through the different stages of the study in young respondents suggests the necessity to develop specific recruitment and retention strategies when investigating a young, physically active population. ©Silvia Manzanero, Maria Kozlovskaia, Nicole Vlahovich, David C Hughes. Originally published in JMIR Research Protocols (http://www.researchprotocols.org), 23.05.2018.

Behavioural changes, sharing behaviour and psychological responses after receiving direct-to-consumer genetic test results: a systematic review and meta-analysis.

Science.gov (United States)

Stewart, Kelly F J; Wesselius, Anke; Schreurs, Maartje A C; Schols, Annemie M W J; Zeegers, Maurice P

2018-01-01

It has been hypothesised that direct-to-consumer genetic tests (DTC-GTs) could stimulate health behaviour change. However, genetic testing may also lead to anxiety and distress or unnecessarily burden the health care system. The aim is to review and meta-analyse the effects of DTC-GT on (1) behaviour change, (2) psychological response and (3) medical consumption. A systematic literature search was performed in three databases, using "direct-to-consumer genetic testing" as a key search term. Random effects meta-analyses were performed when at least two comparable outcomes were available. After selection, 19 articles were included involving 11 unique studies. Seven studies involved actual consumers who paid the retail price, whereas four included participants who received free genetic testing as part of a research trial (non-actual consumers). In meta-analysis, 23% had a positive lifestyle change. More specifically, improved dietary and exercise practices were both reported by 12%, whereas 19% quit smoking. Seven percent of participants had subsequent preventive checks. Thirty-three percent shared their results with any health care professional and 50% with family and/or friends. Sub-analyses show that behaviour change was more prevalent among non-actual consumers, whereas sharing was more prevalent among actual consumers. Results on psychological responses showed that anxiety, distress and worry were low or absent and that the effect faded with time. DTC-GT has potential to be effective as a health intervention, but the right audience needs to be addressed with tailored follow-up. Research is needed to identify consumers who do and do not change behaviour or experience adverse psychological responses.

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

Employability of genetic counselors with a PhD in genetic counseling.

Science.gov (United States)

Wallace, Jody P; Myers, Melanie F; Huether, Carl A; Bedard, Angela C; Warren, Nancy Steinberg

2008-06-01

The development of a PhD in genetic counseling has been discussed for more than 20 years, yet the perspectives of employers have not been assessed. The goal of this qualitative study was to gain an understanding of the employability of genetic counselors with a PhD in genetic counseling by conducting interviews with United States employers of genetic counselors. Study participants were categorized according to one of the following practice areas: academic, clinical, government, industry, laboratory, or research. All participants were responsible for hiring genetic counselors in their institutions. Of the 30 employers interviewed, 23 envisioned opportunities for individuals with a PhD degree in genetic counseling, particularly in academic and research settings. Performing research and having the ability to be a principal investigator on a grant was the primary role envisioned for these individuals by 22/30 participants. Employers expect individuals with a PhD in genetic counseling to perform different roles than MS genetic counselors with a master's degree. This study suggests there is an employment niche for individuals who have a PhD in genetic counseling that complements, and does not compete with, master's prepared genetic counselors.

Genetic privacy.

Science.gov (United States)

Sankar, Pamela

2003-01-01

During the past 10 years, the number of genetic tests performed more than tripled, and public concern about genetic privacy emerged. The majority of states and the U.S. government have passed regulations protecting genetic information. However, research has shown that concerns about genetic privacy are disproportionate to known instances of information misuse. Beliefs in genetic determinacy explain some of the heightened concern about genetic privacy. Discussion of the debate over genetic testing within families illustrates the most recent response to genetic privacy concerns.

The relevance of animal experimental results for the assessment of radiation genetic risks in man

International Nuclear Information System (INIS)

Stephan, G.

1981-01-01

No suitable data are available from man for the quantitative assessment of genetic radiation risk. Therefore, the results from experiments on animals must be utilized. Two hypotheses are presented here in drawing analogical conclusions from one species to another. Although the extrapolation of results from animal experiments remains an open question, the use of experimental results from mice seems to be justified for an assessment of the genetic radiation risk in man. (orig.) [de

Attitudes Toward Genetic Modification Research: An Analysis of the Views of the Sputnik Generation.

Science.gov (United States)

Miller, Jon D.

1982-01-01

Utilizing data from the 1977 National Assessment of Educational Progress (NAEP) survey of young adults, summarizes attitudes toward genetic modification research and the demographic, educational, and occupational correlates of these attitudes. (Author/SK)

Genetic programming over context-free languages with linear constraints for the knapsack problem: first results.

Science.gov (United States)

Bruhn, Peter; Geyer-Schulz, Andreas

2002-01-01

In this paper, we introduce genetic programming over context-free languages with linear constraints for combinatorial optimization, apply this method to several variants of the multidimensional knapsack problem, and discuss its performance relative to Michalewicz's genetic algorithm with penalty functions. With respect to Michalewicz's approach, we demonstrate that genetic programming over context-free languages with linear constraints improves convergence. A final result is that genetic programming over context-free languages with linear constraints is ideally suited to modeling complementarities between items in a knapsack problem: The more complementarities in the problem, the stronger the performance in comparison to its competitors.

Genetic Determinants of Thrombin Generation and Their Relation to Venous Thrombosis: Results from the GAIT-2 Project

Science.gov (United States)

Martin-Fernandez, Laura; Ziyatdinov, Andrey; Carrasco, Marina; Millon, Juan Antonio; Martinez-Perez, Angel; Vilalta, Noelia; Brunel, Helena; Font, Montserrat; Hamsten, Anders; Souto, Juan Carlos; Soria, José Manuel

2016-01-01

Background Venous thromboembolism (VTE) is a common disease where known genetic risk factors explain only a small portion of the genetic variance. Then, the analysis of intermediate phenotypes, such as thrombin generation assay, can be used to identify novel genetic risk factors that contribute to VTE. Objectives To investigate the genetic basis of distinct quantitative phenotypes of thrombin generation and its relationship to the risk of VTE. Patients/Methods Lag time, thrombin peak and endogenous thrombin potential (ETP) were measured in the families of the Genetic Analysis of Idiopathic Thrombophilia 2 (GAIT-2) Project. This sample consisted of 935 individuals in 35 extended families selected through a proband with idiopathic thrombophilia. We performed also genome wide association studies (GWAS) with thrombin generation phenotypes. Results The results showed that 67% of the variation in the risk of VTE is attributable to genetic factors. The heritabilities of lag time, thrombin peak and ETP were 49%, 54% and 52%, respectively. More importantly, we demonstrated also the existence of positive genetic correlations between thrombin peak or ETP and the risk of VTE. Moreover, the major genetic determinant of thrombin generation was the F2 gene. However, other suggestive signals were observed. Conclusions The thrombin generation phenotypes are strongly genetically determined. The thrombin peak and ETP are significantly genetically correlated with the risk of VTE. In addition, F2 was identified as a major determinant of thrombin generation. We reported suggestive signals that might increase our knowledge to explain the variability of this important phenotype. Validation and functional studies are required to confirm GWAS results. PMID:26784699

Genetic Mapping

Science.gov (United States)

... greatly advanced genetics research. The improved quality of genetic data has reduced the time required to identify a ... cases, a matter of months or even weeks. Genetic mapping data generated by the HGP's laboratories is freely accessible ...

Genetic effects of radiation

International Nuclear Information System (INIS)

Selby, P.B.

1977-01-01

Many of the most important findings concerning the genetic effects of radiation have been obtained in the Biology Division of Oak Ridge National Laboratory. The paper focuses on some of the major discoveries made in the Biology Division and on a new method of research that assesses damage to the skeletons of mice whose fathers were irradiated. The results discussed have considerable influence upon estimates of genetic risk in humans from radiation, and an attempt is made to put the estimated amount of genetic damage caused by projected nuclear power development into its proper perspective

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

Science.gov (United States)

Xing, Wan-jin; 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.

Reports of the research results for the peaceful uses of atomic energy

International Nuclear Information System (INIS)

1977-01-01

Research works etc. carried out in national institutes mostly in fiscal 1975 are described in individual short reports (those works with research commissioning funds are given separately from no. 14 on; only those with institute research funds and subsidies are presented): nuclear fusion, safety, food irradiation, cancer countermeasures, agriculture and forestry (fertilization and soil, plants improvement, crops protection, and breeding improvement), medicine (drugs, environmental hygiene, genetics, pathology, etc.), mining and manufacturing (radiation chemistry, radiation measurement, etc.), power (nuclear reactor materials, and nuclear powered ship), civil engineering, activation analysis, and injuries protection. (Mori, K.)

Privacy protection and public goods: building a genetic database for health research in Newfoundland and Labrador.

Science.gov (United States)

Kosseim, Patricia; Pullman, Daryl; Perrot-Daley, Astrid; Hodgkinson, Kathy; Street, Catherine; Rahman, Proton

2013-01-01

To provide a legal and ethical analysis of some of the implementation challenges faced by the Population Therapeutics Research Group (PTRG) at Memorial University (Canada), in using genealogical information offered by individuals for its genetics research database. This paper describes the unique historical and genetic characteristics of the Newfoundland and Labrador founder population, which gave rise to the opportunity for PTRG to build the Newfoundland Genealogy Database containing digitized records of all pre-confederation (1949) census records of the Newfoundland founder population. In addition to building the database, PTRG has developed the Heritability Analytics Infrastructure, a data management structure that stores genotype, phenotype, and pedigree information in a single database, and custom linkage software (KINNECT) to perform pedigree linkages on the genealogy database. A newly adopted legal regimen in Newfoundland and Labrador is discussed. It incorporates health privacy legislation with a unique research ethics statute governing the composition and activities of research ethics boards and, for the first time in Canada, elevating the status of national research ethics guidelines into law. The discussion looks at this integration of legal and ethical principles which provides a flexible and seamless framework for balancing the privacy rights and welfare interests of individuals, families, and larger societies in the creation and use of research data infrastructures as public goods. The complementary legal and ethical frameworks that now coexist in Newfoundland and Labrador provide the legislative authority, ethical legitimacy, and practical flexibility needed to find a workable balance between privacy interests and public goods. Such an approach may also be instructive for other jurisdictions as they seek to construct and use biobanks and related research platforms for genetic research.

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

Directory of Open Access Journals (Sweden)

Luiza Monteavaro Mariath

2017-05-01

Full Text Available Abstract 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.

The perforamance of genetic algorithms on Walsh polynomials: Some anomalous results and their explanation

International Nuclear Information System (INIS)

Forrest, S.

1991-01-01

In this paper we discuss a number of seemingly anomalous results reported by Tanese concerning the performance of the genetic algorithm (GA) on a subclass of Walsh polynomials. Tanese found that the GA optimized these functions poorly and that a partitioning of a single large population into a number of smaller independent populations seemed to improve performance. We reexamine these results experimentally and theoretically, and propose and evaluate some explanations. In addition, we examine the question of what are reasonable and appropriate ways to measure the performance of genetic algorithms. 11 refs., 1 tab

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.

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.

The current state of research on psychiatric genetics in Poland and the world: A report covering recent years

Directory of Open Access Journals (Sweden)

Anna Grzywacz

2018-01-01

Full Text Available The aim of this article was to review the results of research carried out in recent years in relation to genetic studies in psychiatry. The authors’ focus is on the selected disorders, with particular emphasis on the reports from Poland. For this purpose, the most often mentioned studies describing genes and biomarkers involved in psychiatry were selected. Genetic polymorphisms were described in relation to schizophrenia, alcoholism, addiction to psychoactive substances, autistic spectrum, unipolar depression and bipolar disorder, eating disorders and other psychiatric disorders. Characterizing the impact of inheritance factors on the processes in the central nervous system, it can be observed that some biological mechanisms forms associations with tested genetic variants and this combination is linked with the risk of mental disorders. To understand the role of psychiatric genetics, surveys which join genotype and phenotype associations (endophenotype are essential. It seems important to study and search for associations of genes polymorphisms and biomarkers with mental and psychiatric disorders in order to better understanding the biological basis of the disease and more effective treatment of patients. In many cases, the variability analysis of selected genes sheds new light on understanding the etiology of diseases and mental disorders. Genetics is a powerful technique which allows us to study the impact of the inherited variance on changes in mental state, even without having prior knowledge about biological changes.

Editor’s choice: grapevine genetics are not just for researchers but also important to consumers

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Pinder RM

2013-04-01

Full Text Available Roger M PinderInternational Journal of Wine Research, York, UKThe genetic profiling of Vitis vinifera species has long been a rather esoteric interest of researchers investigating the family relationships between different wine grapes, partly as a surer way of identification than the traditional study of vine leaves known as ampelography. Two recent publications, each examining more than 1000 wine grape varieties, have expanded the field not only for the academic researcher1 but also for the consumer.2 The first publication has already been discussed in an editorial in this journal,3 but the latter is a newly published tome of more than 1200 pages authored by two distinguished Masters of Wine from the UK, Jancis Robinson and Julia Harding, and by the academic researcher José Vouillamoz from the University of Neuchatel, Neuchatel, Switzerland, who is responsible for the Swiss Vitis Microsatellite Database (SVMD. The new book covers not only the genetics of wine grapes but also viticultural characteristics, places of cultivation, and the various wines and their taste. Some of these factors are more important to wine consumers than to researchers.

Privacy protection and public goods: building a genetic database for health research in Newfoundland and Labrador

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Pullman, Daryl; Perrot-Daley, Astrid; Hodgkinson, Kathy; Street, Catherine; Rahman, Proton

2013-01-01

Objective To provide a legal and ethical analysis of some of the implementation challenges faced by the Population Therapeutics Research Group (PTRG) at Memorial University (Canada), in using genealogical information offered by individuals for its genetics research database. Materials and methods This paper describes the unique historical and genetic characteristics of the Newfoundland and Labrador founder population, which gave rise to the opportunity for PTRG to build the Newfoundland Genealogy Database containing digitized records of all pre-confederation (1949) census records of the Newfoundland founder population. In addition to building the database, PTRG has developed the Heritability Analytics Infrastructure, a data management structure that stores genotype, phenotype, and pedigree information in a single database, and custom linkage software (KINNECT) to perform pedigree linkages on the genealogy database. Discussion A newly adopted legal regimen in Newfoundland and Labrador is discussed. It incorporates health privacy legislation with a unique research ethics statute governing the composition and activities of research ethics boards and, for the first time in Canada, elevating the status of national research ethics guidelines into law. The discussion looks at this integration of legal and ethical principles which provides a flexible and seamless framework for balancing the privacy rights and welfare interests of individuals, families, and larger societies in the creation and use of research data infrastructures as public goods. Conclusion The complementary legal and ethical frameworks that now coexist in Newfoundland and Labrador provide the legislative authority, ethical legitimacy, and practical flexibility needed to find a workable balance between privacy interests and public goods. Such an approach may also be instructive for other jurisdictions as they seek to construct and use biobanks and related research platforms for genetic research. PMID

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.

Genetical variability of Gladioli as the result of gamma-radiation

International Nuclear Information System (INIS)

Jakota, L.I.; Murin, A.V.

1994-01-01

In the starting material of Gladioli, got in the result of Y-radiation, the forms with white spots on the petals were observed. The Gladioli form 165-81 is distinguished by low growth and middle early flowering. The flower form is triangular. Basic pigmentation is red. White spots of different size on the petals were observed. The investigation was made in 1992 in the field of genetical variability of Gladioli. The Gladioli form 165-81 was irradiated with gamma-radiation dose 30 Gr. As a result the depression of biometric indicators was observed. Consequently, 30 Gr is a mutant dose for Gladioli

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.

Genetic diversity of six populations of red hybrid tilapia, using microsatellites genetic markers

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Boris Briñez R.

2011-05-01

Full Text Available Objective. To determine and evaluate the genetic diversity of six populations of red hybrid tilapia, with the purpose to assess the potential benefit of a future breeding program conducted at the Research Center for Aquaculture (Ceniacua, Colombia. Material and methods. A total of 300 individuals, representing a wide genetic variability, were genotyped using a fluorescent microsatellite marker set of 5 gene-based SSRs in 6 different farms belonging to 4 States of Colombia. Results. The result showed that the mean number of alleles per locus per population was 8.367. The population 5 had the highest mean number of alleles with 9.6 alleles, followed by population 4 with 9.4 alleles, population 2 with 9.2, population 3 with 8.0, population 1 with 7.2 and population 6 with 6.8 alleles. The analysis of the distribution of genetic variation was (17.32% among population, while among individuals within populations was (28.55% and within individuals was high (54.12%. The standard diversity indices showed that population 4 was the more variable (mean He=0.837 followed by population 1 (mean He=0.728, population 3 (mean He=0.721, population 5 (mean He=0.705, population 2 (mean He=0.690, population 6 (mean He=0.586. Highly significant deviations from Hardy–Weinberg, exhibited all of the populations, mostly due to deficits of heterozygotes. Genotype frequencies at loci UNH 106 of population 5 and loci UNH 172 of population 6 were Hardy-Weinberg equilibrium (HWE. Conclusions. The results of this study, contribute to the genetic breeding program of Tilapia, conduced by the Research Center for Aquaculture. The Fst distance showed that the samples are differentiated genetically and it is possible to use at the beginning of the genetic program. However, it is recommended to introduce others individuals to the crossbreeding program.

Consumers' cognitions with regard to genetically modified foods: Results of a qualitative study in four countries

DEFF Research Database (Denmark)

Bredahl, Lone

1999-01-01

Italy and the United Kingdom. In all four countries, however, genetic modification was associated with unnaturalness and low trustworthiness of the resulting product, independently of whether the genetically modified material was traceable in the product. Moral considerations were voiced as well...

Cancer Genetics Services Directory

Science.gov (United States)

... Services Directory Cancer Prevention Overview Research NCI Cancer Genetics Services Directory This directory lists professionals who provide services related to cancer genetics (cancer risk assessment, genetic counseling, genetic susceptibility testing, ...

How Sensitive Is Genetic Data?

Science.gov (United States)

Sariyar, Murat; Suhr, Stephanie; Schlünder, Irene

2017-12-01

The rising demand to use genetic data for research goes hand in hand with an increased awareness of privacy issues related to its use. Using human genetic data in a legally compliant way requires an examination of the legal basis as well as an assessment of potential disclosure risks. Focusing on the relevant legal framework in the European Union, we discuss open questions and uncertainties around the handling of genetic data in research, which can result in the introduction of unnecessary hurdles for data sharing. First, we discuss defining features and relative disclosure risks of some DNA-related biomarkers, distinguishing between the risk for disclosure of (1) the identity of an individual, (2) information about an individual's health and behavior, including previously unknown phenotypes, and (3) information about an individual's blood relatives. Second, we discuss the European legal framework applicable to the use of DNA-related biomarkers in research, the implications of including both inherited and acquired traits in the legal definition, as well as the issue of "genetic exceptionalism"-the notion that genetic information has inherent characteristics that require different considerations than other health and medical information. Finally, by mapping the legal to specific technical definitions, we draw some initial conclusions concerning how sensitive different types of "genetic data" may actually be. We argue that whole genome sequences may justifiably be considered "exceptional" and require special protection, whereas other genetic data that do not fulfill the same criteria should be treated in a similar manner to other clinical data. This kind of differentiation should be reflected by the law and/or other governance frameworks as well as agreed Codes of Conduct when using the term "genetic data."

Privacy and ethics in pediatric environmental health research-part I: genetic and prenatal testing.

Science.gov (United States)

Fisher, Celia B

2006-10-01

The pressing need for empirically informed public policies aimed at understanding and promoting children's health has challenged environmental scientists to modify traditional research paradigms and reevaluate their roles and obligations toward research participants. Methodologic approaches to children's environmental health research raise ethical challenges for which federal regulations may provide insufficient guidance. In this article I begin with a general discussion of privacy concerns and informed consent within pediatric environmental health research contexts. I then turn to specific ethical challenges associated with research on genetic determinants of environmental risk, prenatal studies and maternal privacy, and data causing inflicted insight or affecting the informational rights of third parties.

Perspectives on Genetic and Genomic Technologies in an Academic Medical Center: The Duke Experience

Science.gov (United States)

Katsanis, Sara Huston; Minear, Mollie A.; Vorderstrasse, Allison; Yang, Nancy; Reeves, Jason W.; Rakhra-Burris, Tejinder; Cook-Deegan, Robert; Ginsburg, Geoffrey S.; Simmons, Leigh Ann

2015-01-01

In this age of personalized medicine, genetic and genomic testing is expected to become instrumental in health care delivery, but little is known about its actual implementation in clinical practice. Methods. We surveyed Duke faculty and healthcare providers to examine the extent of genetic and genomic testing adoption. We assessed providers’ use of genetic and genomic testing options and indications in clinical practice, providers’ awareness of pharmacogenetic applications, and providers’ opinions on returning research-generated genetic test results to participants. Most clinician respondents currently use family history routinely in their clinical practice, but only 18 percent of clinicians use pharmacogenetics. Only two respondents correctly identified the number of drug package inserts with pharmacogenetic indications. We also found strong support for the return of genetic research results to participants. Our results demonstrate that while Duke healthcare providers are enthusiastic about genomic technologies, use of genomic tools outside of research has been limited. Respondents favor return of research-based genetic results to participants, but clinicians lack knowledge about pharmacogenetic applications. We identified challenges faced by this institution when implementing genetic and genomic testing into patient care that should inform a policy and education agenda to improve provider support and clinician-researcher partnerships. PMID:25854543

Perspectives on Genetic and Genomic Technologies in an Academic Medical Center: The Duke Experience

Directory of Open Access Journals (Sweden)

Sara Huston Katsanis

2015-04-01

Full Text Available In this age of personalized medicine, genetic and genomic testing is expected to become instrumental in health care delivery, but little is known about its actual implementation in clinical practice. Methods. We surveyed Duke faculty and healthcare providers to examine the extent of genetic and genomic testing adoption. We assessed providers’ use of genetic and genomic testing options and indications in clinical practice, providers’ awareness of pharmacogenetic applications, and providers’ opinions on returning research-generated genetic test results to participants. Most clinician respondents currently use family history routinely in their clinical practice, but only 18 percent of clinicians use pharmacogenetics. Only two respondents correctly identified the number of drug package inserts with pharmacogenetic indications. We also found strong support for the return of genetic research results to participants. Our results demonstrate that while Duke healthcare providers are enthusiastic about genomic technologies, use of genomic tools outside of research has been limited. Respondents favor return of research-based genetic results to participants, but clinicians lack knowledge about pharmacogenetic applications. We identified challenges faced by this institution when implementing genetic and genomic testing into patient care that should inform a policy and education agenda to improve provider support and clinician-researcher partnerships.

[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.

Scale dependent inference in landscape genetics

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Samuel A. Cushman; Erin L. Landguth

2010-01-01

Ecological relationships between patterns and processes are highly scale dependent. This paper reports the first formal exploration of how changing scale of research away from the scale of the processes governing gene flow affects the results of landscape genetic analysis. We used an individual-based, spatially explicit simulation model to generate patterns of genetic...

Genetic programming theory and practice XII

CERN Document Server

Riolo, Rick; Kotanchek, Mark

2015-01-01

These contributions, written by the foremost international researchers and practitioners of Genetic Programming (GP), explore the synergy between theoretical and empirical results on real-world problems, producing a comprehensive view of the state of the art in GP. Topics in this volume include: gene expression regulation, novel genetic models for glaucoma, inheritable epigenetics, combinators in genetic programming, sequential symbolic regression, system dynamics, sliding window symbolic regression, large feature problems, alignment in the error space, HUMIE winners, Boolean multiplexer funct

Genetic genealogy: the Woodson family's experience.

Science.gov (United States)

Williams, Sloan R

2005-06-01

In 1998, Foster and colleagues published the results of a genetic study intended to test whether Thomas Jefferson could have fathered any of Sally Hemings' children. They found that the Jefferson Y chromosome haplotype matched that of a descendant of Hemings' youngest child, but not that of the descendants of the eldest son, Thomas Woodson. The Woodson descendants were shocked by the study's finding, which disagreed with their family oral history. They were suspicious of the study conclusions because of the methods used in recruiting participants for the study and the manner in which they learned of the results. The Woodsons' experience as participants in one of the first examples of genetic genealogy illustrates several issues that both geneticists and amateur genetic genealogists will face in studies of this kind. Misperceptions about the relationship between biology and race, and group genetics in general, can make the interpretation of genetic data difficult. Continuing collaborations between the media and the scientific community will help the public to better understand the risks as well as the benefits of genetic genealogy. Researchers must decide prior to beginning their research what role the human subjects will play in the study and when they will be notified of the study's conclusions. Amateur genetic genealogists should anticipate unexpected outcomes, such as the identification of nonpaternity, to minimize any harmful effects to study participants. Although modern genetic methods provide a powerful new tool for genealogical study, they cannot resolve all genealogical issues, as this study shows, and can involve unanticipated risks to the participants.

Frequently Asked Questions about Genetic and Genomic Science

Science.gov (United States)

... Genetic and Genomic Science and Research FAQ About Clinical Research FAQ About Genetic Research FAQ About Genetic and Genomic Science See Also: Talking Glossary of Genetic Terms Definitions for the genetic terms used on this page ...

Genetic Testing for Wolfram Syndrome Mutations in a Sample of 71 Patients with Hereditary Optic Neuropathy and Negative Genetic Test Results for OPA1/OPA3/LHON.

Science.gov (United States)

Galvez-Ruiz, Alberto; Galindo-Ferreiro, Alicia; Schatz, Patrik

2018-04-01

In this study, the authors present a sample of 71 patients with hereditary optic neuropathy and negative genetic test results for OPA1/OPA3/LHON. All of these patients later underwent genetic testing to rule out WFS. As a result, 53 patients (74.7%) were negative and 18 patients (25.3%) were positive for some type of mutation or variation in the WFS gene. The authors believe that this study is interesting because it shows that a sizeable percentage (25.3%) of patients with hereditary optic 25 neuropathy and negative genetic test results for OPA1/OPA3/LHON had WFS mutations or variants.

Access and benefits sharing of genetic resources and associated traditional knowledge in northern Canada: understanding the legal environment and creating effective research agreements.

Science.gov (United States)

Geary, Janis; Jardine, Cynthia G; Guebert, Jenilee; Bubela, Tania

2013-01-01

Research in northern Canada focused on Aboriginal peoples has historically benefited academia with little consideration for the people being researched or their traditional knowledge (TK). Although this attitude is changing, the complexity of TK makes it difficult to develop mechanisms to preserve and protect it. Protecting TK becomes even more important when outside groups become interested in using TK or materials with associated TK. In the latter category are genetic resources, which may have commercial value and are the focus of this article. This article addresses access to and use of genetic resources and associated TK in the context of the historical power-imbalances in research relationships in Canadian north. Review. Research involving genetic resources and TK is becoming increasingly relevant in northern Canada. The legal framework related to genetic resources and the cultural shift of universities towards commercial goals in research influence the environment for negotiating research agreements. Current guidelines for research agreements do not offer appropriate guidelines to achieve mutual benefit, reflect unequal bargaining power or take the relationship between parties into account. Relational contract theory may be a useful framework to address the social, cultural and legal hurdles inherent in creating research agreements.

The genetic basis of music ability

Science.gov (United States)

Tan, Yi Ting; McPherson, Gary E.; Peretz, Isabelle; Berkovic, Samuel F.; Wilson, Sarah J.

2014-01-01

Music is an integral part of the cultural heritage of all known human societies, with the capacity for music perception and production present in most people. Researchers generally agree that both genetic and environmental factors contribute to the broader realization of music ability, with the degree of music aptitude varying, not only from individual to individual, but across various components of music ability within the same individual. While environmental factors influencing music development and expertise have been well investigated in the psychological and music literature, the interrogation of possible genetic influences has not progressed at the same rate. Recent advances in genetic research offer fertile ground for exploring the genetic basis of music ability. This paper begins with a brief overview of behavioral and molecular genetic approaches commonly used in human genetic analyses, and then critically reviews the key findings of genetic investigations of the components of music ability. Some promising and converging findings have emerged, with several loci on chromosome 4 implicated in singing and music perception, and certain loci on chromosome 8q implicated in absolute pitch and music perception. The gene AVPR1A on chromosome 12q has also been implicated in music perception, music memory, and music listening, whereas SLC6A4 on chromosome 17q has been associated with music memory and choir participation. Replication of these results in alternate populations and with larger samples is warranted to confirm the findings. Through increased research efforts, a clearer picture of the genetic mechanisms underpinning music ability will hopefully emerge. PMID:25018744

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

Home; Journals; Journal of Genetics. FAROOQ AHMAD. Articles written in Journal of Genetics. Volume 96 Issue 6 December 2017 pp 1005-1014 Research article. Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes · MUHAMMAD UMAIR HEIDE SEIDEL ...

Journal of Genetics | Indian Academy of Sciences

Indian Academy of Sciences (India)

Home; Journals; Journal of Genetics. MUHAMMAD UMAIR. Articles written in Journal of Genetics. Volume 96 Issue 6 December 2017 pp 1005-1014 Research article. Ellis–van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes · MUHAMMAD UMAIR HEIDE ...

Hybrid Modeling KMeans – Genetic Algorithms in the Health Care Data

Directory of Open Access Journals (Sweden)

Tessy Badriyah

2013-06-01

Full Text Available K-Means is one of the major algorithms widely used in clustering due to its good computational performance. However, K-Means is very sensitive to the initially selected points which randomly selected, and therefore it does not always generate optimum solutions. Genetic algorithm approach can be applied to solve this problem. In this research we examine the potential of applying hybrid GA- KMeans with focus on the area of health care data. We proposed a new technique using hybrid method combining KMeans Clustering and Genetic Algorithms, called the “Hybrid K-Means Genetic Algorithms” (HKGA. HKGA combines the power of Genetic Algorithms and the efficiency of K-Means Clustering. We compare our results with other conventional algorithms and also with other published research as well. Our results demonstrate that the HKGA achieves very good results and in some cases superior to other methods. Keywords: Machine Learning, K-Means, Genetic Algorithms, Hybrid KMeans Genetic Algorithm (HGKA.

Genetic effects from internally deposited radionuclides

International Nuclear Information System (INIS)

Anon.

1987-01-01

It was learned in the late 1920's that ionizing radiation could produce genetic effects such as gene mutations and chromosome aberrations. However, at least until 1945, the focus on interest in radiation protection was primarily on somatic effects manifested in the individual exposed. Studies of the genetic effects of radiation using drosophila, however, refocused attention on effects transmitted to the exposed individuals offspring and concern over fallout in the 1950's resulted in efforts to estimate the genetic effects from exposure of human populations to internally deposited radionuclides. No human populations have been identified with burdens of internally deposited radioactive materials which have been shown to produce evidence of transmissible genetic damage. As a result, the research approach has been one in which macromolecular, cellular, and whole animal genetic studies have been combined to estimate genetic effects on humans following the deposition of radioactive materials in the body. The purpose of this report is to update the information available from animal and cellular experiments that relates genetic effects to deposited activity and dose from internally deposited radioactive materials

Research results of the Optimiturve research program in 1991

International Nuclear Information System (INIS)

Alakangas, E.

1992-01-01

Optimiturve research program is one of the energy research programs funded by the Ministry of Trade and Industry of Finland. The main target of the program is double the annual hectare yield of peat dried by solar radiation to decrease the peat production costs, to speed up the circulation of capital invested to peat production with the aid of a new production method developed in this research, and hence improve the price competitivity of peat. The targets of the research program are expected to be completed by improving the drying of peat, the efficiency of the peat production machinery, and by developing peat production techniques. The program was started in 1988, and the targets are to be fulfilled up to year 1993. The research program is carried out in cooperation with universities, research organizations and peat producers. This publication consists of the results of the ongoing projects in the Optimiturve research program in 1991. The aim, the contents and the main results of the 18 projects are presented. At the end of this publication there is a list of the reports published in Reports series

Preliminary results on observation of genetic relations among the exotic cosmic-ray phenomena

International Nuclear Information System (INIS)

Hasegawa, S.

1984-01-01

In order to see the genetic hypothesis on the exotic interactions, a systematic study is made for the Chiron-type families on their secondary interactions in the emulsion chamber, and the results are presented. (L.C.) [pt

[Public health, genetics and ethics].

Science.gov (United States)

Kottow, Miguel H

2002-10-01

Genetics research has shown enormous developments in recent decades, although as yet with only limited clinical application. Bioethical analysis has been unable to deal with the vast problems of genetics because emphasis has been put on the principlism applied to both clinical and research bioethics. Genetics nevertheless poses its most complex moral dilemmas at the public level, where a social brand of ethics ought to supersede the essentially interpersonal perspective of principlism. A more social understanding of ethics in genetics is required to unravel issues such as research and clinical explorations, ownership and patents, genetic manipulation, and allocation of resources. All these issues require reflection based on the requirements of citizenry, consideration of common assets, and definition of public policies in regulating genetic endeavors and protecting the society as a whole Bioethics has privileged the approach to individual ethical issues derived from genetic intervention, thereby neglecting the more salient aspects of genetics and social ethics.

Psychologic distress after disclosure of genetic test results regarding hereditary nonpolyposis colorectal carcinoma.

Science.gov (United States)

Murakami, Yoshie; Okamura, Hitoshi; Sugano, Kokichi; Yoshida, Teruhiko; Kazuma, Keiko; Akechi, Tatsuo; Uchitomi, Yosuke

2004-07-15

To the authors' knowledge, there have been few studies of the psychologic distress after disclosure of genetic test results for hereditary nonpolyposis colorectal carcinoma (HNPCC). The objectives of this study were to identify the prevalence rates and predictors of psychologic distress and to evaluate the feelings of guilt after disclosure of the test results in Japanese probands and unaffected relatives. Probands and unaffected relatives were interviewed immediately after the first genetic counseling session for HNPCC and again 1 month after disclosure of the genetic test results. The prevalence of major and minor depression, acute stress disorder (ASD), posttraumatic stress disorder (PTSD), and posttraumatic stress symptoms (PTSS) were assessed using the Structured Clinical Interview based on the Diagnostic and Statistical Manual of Mental Disorders, 3rd edition revised (DSM-III-R) or the DSM-IV; feelings of guilt were investigated using a numeric scale and a semistructured interview. Among 47 participants who completed the baseline interview, 42 participants (89%) completed the 1-month follow-up interview. Although none of the participants met the criteria for major depression, ASD, or PTSD at the follow-up interview, 3 of 42 participants (7%) met the criteria for minor depression and 2 participants (5%) had PTSS. The only predictor of psychologic distress found was the presence of a history of major or minor depression (odds ratio, 19.41; 95% confidence interval, 1.42-264.95; P depression and PTSS. Copyright 2004 American Cancer Society.

A Systematic Review of Genetic Testing and Lifestyle Behaviour Change: Are We Using High-Quality Genetic Interventions and Considering Behaviour Change Theory?

Science.gov (United States)

Horne, Justine; Madill, Janet; O'Connor, Colleen; Shelley, Jacob; Gilliland, Jason

2018-04-10

Studying the impact of genetic testing interventions on lifestyle behaviour change has been a priority area of research in recent years. Substantial heterogeneity exists in the results and conclusions of this literature, which has yet to be explained using validated behaviour change theory and an assessment of the quality of genetic interventions. The theory of planned behaviour (TPB) helps to explain key contributors to behaviour change. It has been hypothesized that personalization could be added to this theory to help predict changes in health behaviours. This systematic review provides a detailed, comprehensive identification, assessment, and summary of primary research articles pertaining to lifestyle behaviour change (nutrition, physical activity, sleep, and smoking) resulting from genetic testing interventions. The present review further aims to provide in-depth analyses of studies conducted to date within the context of the TPB and the quality of genetic interventions provided to participants while aiming to determine whether or not genetic testing facilitates changes in lifestyle habits. This review is timely in light of a recently published "call-to-action" paper, highlighting the need to incorporate the TPB into personalized healthcare behaviour change research. Three bibliographic databases, one key website, and article reference lists were searched for relevant primary research articles. The PRISMA Flow Diagram and PRISMA Checklist were used to guide the search strategy and manuscript preparation. Out of 32,783 titles retrieved, 26 studies met the inclusion criteria. Three quality assessments were conducted and included: (1) risk of bias, (2) quality of genetic interventions, and (3) consideration of theoretical underpinnings - primarily the TPB. Risk of bias in studies was overall rated to be "fair." Consideration of the TPB was "poor," with no study making reference to this validated theory. While some studies (n = 11; 42%) made reference to other

Inbred or Outbred? Genetic Diversity in Laboratory Rodent Colonies

Science.gov (United States)

Brekke, Thomas D.; Steele, Katherine A.; Mulley, John F.

2017-01-01

Nonmodel rodents are widely used as subjects for both basic and applied biological research, but the genetic diversity of the study individuals is rarely quantified. University-housed colonies tend to be small and subject to founder effects and genetic drift; so they may be highly inbred or show substantial genetic divergence from other colonies, even those derived from the same source. Disregard for the levels of genetic diversity in an animal colony may result in a failure to replicate results if a different colony is used to repeat an experiment, as different colonies may have fixed alternative variants. Here we use high throughput sequencing to demonstrate genetic divergence in three isolated colonies of Mongolian gerbil (Meriones unguiculatus) even though they were all established recently from the same source. We also show that genetic diversity in allegedly “outbred” colonies of nonmodel rodents (gerbils, hamsters, house mice, deer mice, and rats) varies considerably from nearly no segregating diversity to very high levels of polymorphism. We conclude that genetic divergence in isolated colonies may play an important role in the “replication crisis.” In a more positive light, divergent rodent colonies represent an opportunity to leverage genetically distinct individuals in genetic crossing experiments. In sum, awareness of the genetic diversity of an animal colony is paramount as it allows researchers to properly replicate experiments and also to capitalize on other genetically distinct individuals to explore the genetic basis of a trait. PMID:29242387

Sesame improvement by induced mutations: Results of the co-ordinated research project and recommendation for future studies

International Nuclear Information System (INIS)

Zanten, L. van

2001-01-01

The FAO/IAEA Co-ordinated Research Project has brought together sesame breeders from 11 countries. They, together with pathologists, agronomists and physiologists, have made considerable effort to advance the genetic improvement in sesame. The results and conclusions from this project cover the mutation techniques used for the genetic improvement of various aspects of sesame. These recommendations do not only deal with the application of mutation induction, but also with the wider plant breeding related objectives and methods to be considered for this semi-domesticated crop. It is clear that more advanced techniques can and should be incorporated in the process which would enhance the genetic improvement. Although five years is a relatively limited time in a plant breeding programme, the participants have been able to produce and make available a considerable pool of agronomically interesting mutant sesame germplasm. The participants in the CRP considered that, together with other specialists, plant breeders can gain fuller benefit from the mutations induced by radiation or chemicals. Work on these mutants must continue in co-operation/consultation with plant physiologists and pathologists, and with biotechnologists who may in the future be able to provide in the future methods for introducing beneficial traits from other crops into sesame. The sesame programme should include scientists from the Member States where sesame grows and scientists from developed countries who may have greater access to physiological and molecular research facilities. (author)

The redesigned Forensic Research/Reference on Genetics-knowledge base, FROG-kb.

Science.gov (United States)

Kidd, Kenneth K; Soundararajan, Usha; Rajeevan, Haseena; Pakstis, Andrew J; Moore, Katherine N; Ropero-Miller, Jeri D

2018-03-01

The Forensic Resource/Reference on Genetics-knowledge base (FROG-kb) web site was introduced in 2011 and in the five years since the previous publication ongoing research into how the database can better serve forensics has resulted in extensive redesign of the database interface and functionality. Originally designed as a prototype to support forensic use of single nucleotide polymorphisms (SNPs), FROG-kb provides a freely accessible web interface that facilitates forensic practice and can be useful for teaching and research. Based on knowledge gained through its use, the web interface has been redesigned for easier navigation through the multiple components. The site also has functional enhancements, extensive new documentation, and new reference panels of SNPs with new curated data. FROG-kb focuses on single nucleotide polymorphisms (SNPs) and provides reference population data for several published panels of individual identification SNPs (IISNPs) and several published panels of ancestry inference SNPs (AISNPs). For each of the various marker panels with reference population data, FROG-kb calculates random match probabilities (RMP) and relative likelihoods of ancestry for a user-entered genotype profile (either completely or partially specified). Example genotype profiles are available and the User's Manual presents interpretation guidelines for the calculations. The extensive documentation along with ongoing updates makes FROG-kb a comprehensive tool in facilitating use of SNPs in forensic practice and education. An overview of the new FROG-kb with examples and material explaining the results of its use are presented here. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

Philosophy of race meets population genetics.

Science.gov (United States)

Spencer, Quayshawn

2015-08-01

In this paper, I respond to four common semantic and metaphysical objections that philosophers of race have launched at scholars who interpret recent human genetic clustering results in population genetics as evidence for biological racial realism. I call these objections 'the discreteness objection', 'the visibility objection', 'the very important objection', and 'the objectively real objection.' After motivating each objection, I show that each one stems from implausible philosophical assumptions about the relevant meaning of 'race' or the nature of biological racial realism. In order to be constructive, I end by offering some advice for how we can productively critique attempts to defend biological racial realism based on recent human genetic clustering results. I also offer a clarification of the relevant human-population genetic research. Copyright © 2015 Elsevier Ltd. All rights reserved.

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

Science.gov (United States)

Cook, Lola; Schulze, Jeanine

2017-12-01

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.

RESEARCH ARTICLE Genetic control of Yellow Vein Mosaic Virus ...

Indian Academy of Sciences (India)

sony

Qualitative genetic analysis done on the basis of segregation pattern of ..... First author acknowledges the financial help rendered by Jawaharlal Nehru Memorial Fund, New. Delhi ... Indian Journal of Genetics and Plant Breeding 22, 137-38.

Genetic aspects of pathological gambling: a complex disorder with shared genetic vulnerabilities.

Science.gov (United States)

Lobo, Daniela S S; Kennedy, James L

2009-09-01

To summarize and discuss findings from genetic studies conducted on pathological gambling (PG). Searches were conducted on PubMed and PsychInfo databases using the keywords: 'gambling and genes', 'gambling and family' and 'gambling and genetics', yielding 18 original research articles investigating the genetics of PG. Twin studies using the Vietnam Era Twin Registry have found that: (i) the heritability of PG is estimated to be 50-60%; (ii) PG and subclinical PG are a continuum of the same disorder; (iii) PG shares genetic vulnerability factors with antisocial behaviours, alcohol dependence and major depressive disorder; (iv) genetic factors underlie the association between exposure to traumatic life-events and PG. Molecular genetic investigations on PG are at an early stage and published studies have reported associations with genes involved in the brain's reward and impulse control systems. Despite the paucity of studies in this area, published studies have provided considerable evidence of the influence of genetic factors on PG and its complex interaction with other psychiatric disorders and environmental factors. The next step would be to investigate the association and interaction of these variables in larger molecular genetic studies with subphenotypes that underlie PG. Results from family and genetic investigations corroborate further the importance of understanding the biological underpinnings of PG in the development of more specific treatment and prevention strategies.

Genetics of Pseudococcusmicrocirculus on orchids RESEARCH

Indian Academy of Sciences (India)

Navya

Genetic Structure of Pseudococcusmicrocirculus (Hemiptera: .... these orchids are listed as endangered on Florida's Regulated Plant Index (Coile and Garland 2003). .... other samples, which we did not have sufficient statistical power to detect. ... males and minute first instar nymphs can use wind currents for dispersal.

Genetic testing in the epilepsies—Report of the ILAE Genetics Commission

OpenAIRE

Ottman, Ruth; Hirose, Shinichi; Jain, Satish; Lerche, Holger; Lopes-Cendes, Iscia; Noebels, Jeffrey L.; Serratosa, José; Zara, Federico; Scheffer, Ingrid E.

2010-01-01

In this report, the International League Against Epilepsy (ILAE) Genetics Commission discusses essential issues to be considered with regard to clinical genetic testing in the epilepsies. Genetic research on the epilepsies has led to the identification of more than 20 genes with a major effect on susceptibility to idiopathic epilepsies. The most important potential clinical application of these discoveries is genetic testing: the use of genetic information, either to clarify the diagnosis in ...

[The role of the genetics history in genetics teaching].

Science.gov (United States)

Li, Ming-Hui

2006-08-01

The research of the scientific history and development status reflect the science and technology level of a nation. The genetic history is one of the branches of the life science and the 21st century is life science century. The genetics history in the teaching of genetics not only can help students get familiar with the birth and development of genetics, but also enhance their thinking ability and scientific qualities. The roles and approaches of teaching are discussed in this paper.

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.

Future possibilities in migraine genetics

DEFF Research Database (Denmark)

Rudkjøbing, Laura Aviaja; Esserlind, Ann-Louise; Olesen, Jes

2012-01-01

Migraine with and without aura (MA and MO, respectively) have a strong genetic basis. Different approaches using linkage-, candidate gene- and genome-wide association studies have been explored, yielding limited results. This may indicate that the genetic component in migraine is due to rare...... variants; capturing these will require more detailed sequencing in order to be discovered. Next-generation sequencing (NGS) techniques such as whole exome and whole genome sequencing have been successful in finding genes in especially monogenic disorders. As the molecular genetics research progresses......, the technology will follow, rendering these approaches more applicable in the search for causative migraine genes in MO and MA. To date, no studies using NGS in migraine genetics have been published. In order to gain insight into the future possibilities of migraine genetics, we have looked at NGS studies...

Partial Results Regarding the Genetic Analysis of Thoroughbred Horse from Cislău Studfarm: Reproductive Isolation and Age Structure

Directory of Open Access Journals (Sweden)

Marius Maftei

2011-05-01

Full Text Available This study is a part of an ample research concerning the genetic analysis (history of Thoroughbred horses from Cislău studfarm. The genetic analysis studies are a part of Animal Genetic Resources Management because just start of them we elaborate the strategies for inbreeding management. This study has as purpose to present two important aspects of genetic analysis: reproductive isolation level and age structure.This parameters has a capital importance in animal breeding because there has a directly influence in animal population evolution. The reproductive isolation situation was quantified using the relation elaborated by S. Wright in 1921. The age structure situation is based on the age distribution histogram. The analysis showed that the Nonius horse from Izvin stud is a reproductively isolated population and have its own evolutionary path. Age structure is not balanced with negative repercurssions on generation interval.

Protecting genetic privacy.

Science.gov (United States)

Roche, P A; Annas, G J

2001-05-01

This article outlines the arguments for and against new rules to protect genetic privacy. We explain why genetic information is different to other sensitive medical information, why researchers and biotechnology companies have opposed new rules to protect genetic privacy (and favour anti-discrimination laws instead), and discuss what can be done to protect privacy in relation to genetic-sequence information and to DNA samples themselves.

Determinants of consumer attitudes and purchase intentions with regard to genetically modified foods: Results of a cross-national survey

DEFF Research Database (Denmark)

Bredahl, Lone

2000-01-01

purchasing the products, which were, in turn, significantly influenced by overall attitudes towards genetic modification in food production through their effects on beliefs that consumer hold about the quality and trustworthiness of the products. 6. The results clearly verify that consumer acceptance...... the results of a survey which was carried out in Denmark, Germany, Italy and the United Kingdom to investigate the formation of consumer attitudes towards genetic modification in food production and of purchase decisions with regard to genetically modified yoghurt and beer. Altogether, 2031 consumers were...... towards nature and attitude towards technology. These general attitudes were found to influence attitudes towards genetic modification through their impact on perceived risks and benefits of the technology. In Denmark, Germany and the United Kingdom, perceived risks of applying genetic modification...

Exploration of genetic susceptibility factors for Parkinson's disease ...

Indian Academy of Sciences (India)

1Neurosciences Research Group, School of Medicine and Institute of Genetics, Universidad Nacional de Colombia, Bogotá ... factors for Parkinson's disease in a South American sample. J. Genet. 89, ... In the current work, we report the results of a system- ..... Synaptic dysfunction and oxidative stress in Alzheimer's disease:.

Cognitive Development, Genetics Problem Solving, and Genetics Instruction: A Critical Review.

Science.gov (United States)

Smith, Mike U.; Sims, O. Suthern, Jr.

1992-01-01

Review of literature concerning problem solving in genetics and Piagetian stage theory. Authors conclude the research suggests that formal-operational thought is not strictly required for the solution of the majority of classical genetics problems; however, some genetic concepts are difficult for concrete operational students to understand.…

Cisplatin resistance: a cellular self-defense mechanism resulting from multiple epigenetic and genetic changes.

Science.gov (United States)

Shen, Ding-Wu; Pouliot, Lynn M; Hall, Matthew D; Gottesman, Michael M

2012-07-01

Cisplatin is one of the most effective broad-spectrum anticancer drugs. Its effectiveness seems to be due to the unique properties of cisplatin, which enters cells via multiple pathways and forms multiple different DNA-platinum adducts while initiating a cellular self-defense system by activating or silencing a variety of different genes, resulting in dramatic epigenetic and/or genetic alternations. As a result, the development of cisplatin resistance in human cancer cells in vivo and in vitro by necessity stems from bewilderingly complex genetic and epigenetic changes in gene expression and alterations in protein localization. Extensive published evidence has demonstrated that pleiotropic alterations are frequently detected during development of resistance to this toxic metal compound. Changes occur in almost every mechanism supporting cell survival, including cell growth-promoting pathways, apoptosis, developmental pathways, DNA damage repair, and endocytosis. In general, dozens of genes are affected in cisplatin-resistant cells, including pathways involved in copper metabolism as well as transcription pathways that alter the cytoskeleton, change cell surface presentation of proteins, and regulate epithelial-to-mesenchymal transition. Decreased accumulation is one of the most common features resulting in cisplatin resistance. This seems to be a consequence of numerous epigenetic and genetic changes leading to the loss of cell-surface binding sites and/or transporters for cisplatin, and decreased fluid phase endocytosis.

Recent Research Trends in Genetic Algorithm Based Flexible Job Shop Scheduling Problems

OpenAIRE

Amjad, Muhammad Kamal; Butt, Shahid Ikramullah; Kousar, Rubeena; Ahmad, Riaz; Agha, Mujtaba Hassan; Faping, Zhang; Anjum, Naveed; Asgher, Umer

2018-01-01

Flexible Job Shop Scheduling Problem (FJSSP) is an extension of the classical Job Shop Scheduling Problem (JSSP). The FJSSP is known to be NP-hard problem with regard to optimization and it is very difficult to find reasonably accurate solutions of the problem instances in a rational time. Extensive research has been carried out in this area especially over the span of the last 20 years in which the hybrid approaches involving Genetic Algorithm (GA) have gained the most popularity. Keeping in...

Genetics of hereditary neurological disorders in children.

Science.gov (United States)

Huang, Yue; Yu, Sui; Wu, Zhanhe; Tang, Beisha

2014-04-01

Hereditary neurological disorders (HNDs) are relatively common in children compared to those occurring in adulthood. Recognising clinical manifestations of HNDs is important for the selection of genetic testing, genetic testing results interpretation, and genetic consultation. Meanwhile, advances in next generation sequencing (NGS) technologies have significantly enabled the discovery of genetic causes of HNDs and also challenge paediatricians on applying genetic investigation. Combination of both clinical information and advanced technologies will enhance the genetic test yields in clinical setting. This review summarises the clinical presentations as well as genetic causes of paediatric neurological disorders in four major areas including movement disorders, neuropsychiatric disorders, neuron peripheral disorders and epilepsy. The aim of this review is to help paediatric neurologists not only to see the clinical features but also the complex genetic aspect of HNDs in order to utilise genetic investigation confidently in their clinical practice. A smooth transition from research based to clinical use of comprehensive genetic testing in HNDs in children could be foreseen in the near future while genetic testing, genetic counselling and genetic data interpretation are in place appropriately.

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.

[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.

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

Science.gov (United States)

Chen, Fan-guo; Li, Qing-qing

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.

Effectiveness of students worksheet based on mastery learning in genetics subject

Science.gov (United States)

Megahati, R. R. P.; Yanti, F.; Susanti, D.

2018-05-01

Genetics is one of the subjects that must be followed by students in Biology education department. Generally, students do not like the genetics subject because of genetics concepts difficult to understand and the unavailability of a practical students worksheet. Consequently, the complete learning process (mastery learning) is not fulfilled and low students learning outcomes. The aim of this study develops student worksheet based on mastery learning that practical in genetics subject. This research is a research and development using 4-D models. The data analysis technique used is the descriptive analysis that describes the results of the practicalities of students worksheets based on mastery learning by students and lecturer of the genetic subject. The result is the student worksheet based on mastery learning on genetics subject are to the criteria of 80,33% and 80,14%, which means that the students worksheet practical used by lecturer and students. Student’s worksheet based on mastery learning effective because it can increase the activity and student learning outcomes.

Introduction to mutation breeding and genetic research of soybean in China

International Nuclear Information System (INIS)

Zhan Mingkui; Zhao Jingrong

1988-01-01

This paper summarized the achievements and developments in mutation breeding and genetic research of soybean. The optimal irradiation dosage was determined for 22 varieties of soybean which have been released and popularized so far. Analyses of mutants, mutant characters and mutation frequency in the generations of M 1 , M 2 and M 3 of soybean were carried out and a procedure of mutation breeding was described. Discussion of the effect of different radiant agents, the selection of progeny induced by radiation, the breeding method by combining mutation with hybridization and resistant varieties with good quality ones have been conducted

Recent Research Trends in Genetic Algorithm Based Flexible Job Shop Scheduling Problems

Directory of Open Access Journals (Sweden)

Muhammad Kamal Amjad

2018-01-01

Full Text Available Flexible Job Shop Scheduling Problem (FJSSP is an extension of the classical Job Shop Scheduling Problem (JSSP. The FJSSP is known to be NP-hard problem with regard to optimization and it is very difficult to find reasonably accurate solutions of the problem instances in a rational time. Extensive research has been carried out in this area especially over the span of the last 20 years in which the hybrid approaches involving Genetic Algorithm (GA have gained the most popularity. Keeping in view this aspect, this article presents a comprehensive literature review of the FJSSPs solved using the GA. The survey is further extended by the inclusion of the hybrid GA (hGA techniques used in the solution of the problem. This review will give readers an insight into use of certain parameters in their future research along with future research directions.

Translation and genetic criticism : genetic and editorial approaches to the 'untranslatable' in Joyce and Beckett

OpenAIRE

Hulle, Van, Dirk

2015-01-01

Abstract: Genetics of translation may suggest a unidirectional link between two fields of research (genetic criticism applied to translation), but there are many ways in which translation and genetic criticism interact. This article's research hypothesis is that an exchange of ideas between translation studies and genetic criticism can be mutually beneficial in more than one way. The main function of this exchange is to enhance a form of textual awareness, and to realize this enhanced textual...

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…

Conservation genetics of managed ungulate populations

Science.gov (United States)

Scribner, Kim T.

1993-01-01

Natural populations of many species are increasingly impacted by human activities. Perturbations are particularly pronunced for large ungulates due in part to sport and commercial harvest, to reductions and fragmentation of native habitat, and as the result of reintroductions. These perturbations affect population size, sex and age composition, and population breeding structure, and as a consequence affect the levels and partitioning of genetic variation. Three case histories highlighting long-term ecological genetic research on mule deer Odocoileus hemionus (Rafinesque, 1817), white-tailed deer O. virginianus (Zimmermann, 1780), and Alpine ibex Capra i. ibex Linnaeus, 1758 are presented. Joint examinations of population ecological and genetic data from several populations of each species reveal: (1) that populations are not in genetic equilibrium, but that allele frequencies and heterozygosity change dramatically over time and among cohorts produced in successive years, (2) populations are genetically structured over short and large geographic distances reflecting local breeding structure and patterns of gene flow, respectively; however, this structure is quite dynamic over time, due in part to population exploitation, and (3) restocking programs are often undertaken with small numbers of founding individuals resulting in dramatic declines in levels of genetic variability and increasing levels of genetic differentiation among populations due to genetic drift. Genetic characteristics have and will continue to provide valuable indirect sources of information relating enviromental and human perturbations to changes in population processes.

Genetic screening: programs, principles, and research--thirty years later. Reviewing the recommendations of the Committee for the Study of Inborn Errors of Metabolism (SIEM).

Science.gov (United States)

Simopoulos, A P

2009-01-01

Screening programs for genetic diseases and characteristics have multiplied in the last 50 years. 'Genetic Screening: Programs, Principles, and Research' is the report of the Committee for the Study of Inborn Errors of Metabolism (SIEM Committee) commissioned by the Division of Medical Sciences of the National Research Council at the National Academy of Sciences in Washington, DC, published in 1975. The report is considered a classic in the field worldwide, therefore it was thought appropriate 30 years later to present the Committee's modus operandi and bring the Committee's recommendations to the attention of those involved in genetics, including organizational, educational, legal, and research aspects of genetic screening. The Committee's report anticipated many of the legal, ethical, economic, social, medical, and policy aspects of genetic screening. The recommendations are current, and future committees should be familiar with them. In 1975 the Committee stated: 'As new screening tests are devised, they should be carefully reviewed. If the experimental rate of discovery of new genetic characteristics means an accelerating rate of appearance of new screening tests, now is the time to develop the medical and social apparatus to accommodate what later on may otherwise turn out to be unmanageable growth.' What a prophetic statement that was. If the Committee's recommendations had been implemented on time, there would be today a federal agency in existence, responsive and responsible to carry out the programs and support research on various aspects of genetic screening, including implementation of a federal law that protects consumers from discrimination by their employers and the insurance industry on the basis of genetic information. Copyright 2008 S. Karger AG, Basel.

Grandmothers as gems of genetic wisdom: exploring South African traditional beliefs about the causes of childhood genetic disorders.

Science.gov (United States)

Penn, Claire; Watermeyer, Jennifer; MacDonald, Carol; Moabelo, Colleen

2010-02-01

With its diverse cultural and linguistic profile, South Africa provides a unique context to explore contextual influences on the process of genetic counseling. Prior research suggests intergenerational differences regarding models of causation which influence treatment-seeking paths. This pilot study therefore aimed to explore South African traditional beliefs regarding common childhood genetic disorders. Three focus groups were conducted with fifteen grandmothers from different cultural backgrounds in an urban community. Questions pertained to the role of the grandmother, traditional beliefs regarding causes of genetic disorders, explanations of heredity, and prevention and management of genetic disorders. Results indicate a variety of cultural explanations for causes of childhood genetic disorders. These causes can be classified into categories related to lifestyle, behavior, social issues, culture, religion, genetic, and familial causes. Prevention and treatment issues are also highlighted. These findings have implications for genetic counseling practice, which needs to include a greater focus on cultural issues.

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.

Loss of genetic diversity in Maculinea populations over 10 years

DEFF Research Database (Denmark)

Nash, David Richard; Lomborg, Andreas Eg

I will present the results of research on the population genetics of Maculinea alcon and M. arion in Southern scandinavia, which shows a strong decrease in genetic diversity in most populations, even if those populations are apparently otherwise healthy....

Research for genetic instability of human genome

International Nuclear Information System (INIS)

Hori, T.; Takahashi, E.; Tsuji, H.; Yamauchi, M.; Murata, M.

1992-01-01

In the present review paper, the potential relevance of chromosomal fragile sites to carcinogenesis and mutagenesis is discussed based on our own and other's studies. Recent evidence indicate that fragile sites may act as predisposition factors involved in chromosomal instability of the human genome and that the sites may be preferential targets for various DNA damaging agents including ionizing radiation. It is also demonstrated that some critical genomic rearrangements at the fragile sites may contribute towards oncogenesis and that individuals carrying heritable form of fragile site may be at the risk. Although clinical significance of autosomal fragile sites has been a matter of discussion, a fragile site of the X chromosome is known to be associated with an X-linked genetic diseases, called fragile X syndrome. Molecular events leading to the fragile X syndrome have recently been elucidated. The fragile X genotype can be characterized by an increased amount of p(CCG)n repeat DNA sequence in the FMR-1 gene and the repeated sequences are shown to be unstable in both meiosis and mitosis. These repeats might exhibit higher mutation rate than is generally seen in the human genome. Further studies on the fragile sites in molecular biology and radiation biology will yield relevant data to the molecular mechanisms of genetic instability of the human genome as well as to better assessment of genetic effect of ionizing radiation. (author)

Insect chromosomes preparing methods for genetic researches

African Journals Online (AJOL)

STORAGESEVER

2009-01-05

Jan 5, 2009 ... Ankara University Faculty of Science Department of Biology Tandogan Ankara Turkey. Accepted 21 ... intraspecific level; and the genetics evolution of the groups of .... Animal cytology and evolution Cambridge University. Press.

[The genetics of addictions].

Science.gov (United States)

Ibañez Cuadrado, Angela

2008-01-01

The addictions are common chronic psychiatric diseases which represent a serious worldwide public-health problem. They have a high prevalence and negative effects at individual, family and societal level, with a high sanitary cost. Epidemiological genetic research has revealed that addictions are moderately to highly heritable. Also the investigation has evidenced that environmental and genetic factors contribute to individual differences in vulnerability to addictions. Advances in the neurobiology of addiction joined to the development of new molecular genetic technologies, have led to the identification of a variety of underlying genes and pathways in addiction process, leading to the description of common molecular mechanisms in substance and behaviour dependencies. Identifying gene-environment interactions is a crucial issue in future research. Other major goal in genetic research is the identification of new therapeutic targets for treatment and prevention.

Adults' perceptions of genetic counseling and genetic testing.

Science.gov (United States)

Houfek, Julia Fisco; Soltis-Vaughan, Brigette S; Atwood, Jan R; Reiser, Gwendolyn M; Schaefer, G Bradley

2015-02-01

This study described the perceptions of genetic counseling and testing of adults (N = 116) attending a genetic education program. Understanding perceptions of genetic counseling, including the importance of counseling topics, will contribute to patient-focused care as clinical genetic applications for common, complex disorders evolve. Participants completed a survey addressing: the importance of genetic counseling topics, benefits and negative effects of genetic testing, and sharing test results. Topics addressing practical information about genetic conditions were rated most important; topics involving conceptual genetic/genomic principles were rated least important. The most frequently identified benefit and negative effect of testing were prevention/early detection/treatment and psychological distress. Participants perceived that they were more likely to share test results with first-degree than other relatives. Findings suggest providing patients with practical information about genetic testing and genetic contributions to disease, while also determining whether their self-care abilities would be enhanced by teaching genetic/genomic principles. Copyright © 2014 Elsevier Inc. All rights reserved.

Research on optimization of combustion efficiency of thermal power unit based on genetic algorithm

Science.gov (United States)

Zhou, Qiongyang

2018-04-01

In order to improve the economic performance and reduce pollutant emissions of thermal power units, the characteristics of neural network in establishing boiler combustion model are analyzed based on the analysis of the main factors affecting boiler efficiency by using orthogonal method. In addition, on the basis of this model, the genetic algorithm is used to find the best control amount of the furnace combustion in a certain working condition. Through the genetic algorithm based on real number encoding and roulette selection is concluded: the best control quantity at a condition of furnace combustion can be combined with the boiler combustion system model for neural network training. The precision of the neural network model is further improved, and the basic work is laid for the research of the whole boiler combustion optimization system.

Ordering molecular genetic tests and reporting results: practices in laboratory and clinical settings.

Science.gov (United States)

Lubin, Ira M; Caggana, Michele; Constantin, Carolyn; Gross, Susan J; Lyon, Elaine; Pagon, Roberta A; Trotter, Tracy L; Wilson, Jean Amos; McGovern, Margaret M

2008-09-01

Previous studies have suggested that patient care may be compromised as a consequence of poor communication between clinicians and laboratory professionals in cases in which molecular genetic test results are reported. To understand better the contributing factors to such compromised care, we investigated both pre- and postanalytical processes using cystic fibrosis mutation analysis as our model. We found that although the majority of test requisition forms requested patient/family information that was necessary for the proper interpretation of test results, in many cases, these data were not provided by the individuals filling out the forms. We found instances in which result reports for simulated diagnostic testing described individuals as carriers where only a single mutation was found with no comment pertaining to a diagnosis of cystic fibrosis. Similarly, reports based on simulated scenarios for carrier testing were problematic when no mutations were identified, and the patient's race/ethnicity and family history were not discussed in reference to residual risk of disease. Remarkably, a pilot survey of obstetrician-gynecologists revealed that office staff, including secretaries, often helped order genetic tests and reported test results to patients, raising questions about what efforts are undertaken to ensure personnel competency. These findings are reviewed in light of what efforts should be taken to improve the quality of test-ordering and result-reporting practices.

Psychosocial and Clinical Factors Associated with Family Communication of Cancer Genetic Test Results among Women Diagnosed with Breast Cancer at a Young Age.

Science.gov (United States)

Elrick, Ashley; Ashida, Sato; Ivanovich, Jennifer; Lyons, Sarah; Biesecker, Barbara B; Goodman, Melody S; Kaphingst, Kimberly A

2017-02-01

Genetic test results have medical implications beyond the patient that extend to biological family members. We examined psychosocial and clinical factors associated with communication of genetic test results within families. Women (N = 1080) diagnosed with breast cancer at age 40 or younger completed an online survey; 920 women that reported prior cancer genetic testing were included in analysis. We examined the proportion of immediate family members to whom they communicated genetic test results, and built multivariable regression models to examine clinical and psychosocial variables associated with the proportion score. Participants were most likely to communicate test results to their mother (83 %) and least likely to their son (45 %). Participants who carried a BRCA mutation (OR = 1.34; 95 % CI = 1.06, 1.70), had higher interest in genomic information (OR = 1.55; 95 % CI = 1.26, 1.91) and lower genetic worry (OR = 0.91; 95 % CI = 0.86, 0.96) communicated genetic test results to a greater proportion of their immediate family members. Participants with a BRCA1/2 mutation shared their genetic test results with more male family members (OR = 1.72; 95 % CI = 1.02, 2.89). Our findings suggest that patients with high worry about genetic risks, low interest in genomic information, or receive a negative genetic test result will likely need additional support to encourage family communication.

Managing sensitive phenotypic data and biomaterial in large-scale collaborative psychiatric genetic research projects: practical considerations.

Science.gov (United States)

Demiroglu, S Y; Skrowny, D; Quade, M; Schwanke, J; Budde, M; Gullatz, V; Reich-Erkelenz, D; Jakob, J J; Falkai, P; Rienhoff, O; Helbing, K; Heilbronner, U; Schulze, T G

2012-12-01

Large-scale collaborative research will be a hallmark of future psychiatric genetic research. Ideally, both academic and non-academic institutions should be able to participate in such collaborations to allow for the establishment of very large samples in a straightforward manner. Any such endeavor requires an easy-to-implement information technology (IT) framework. Here we present the requirements for a centralized framework and describe how they can be met through a modular IT toolbox.

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)

Outline of the results of test and research at expense of entrusting research on atomic energy peaceful utilization, 1980

International Nuclear Information System (INIS)

1982-03-01

The test research on the substances promoting the recovery from radiation injuries, the research on the security of the facilities using radioisotopes in earthquakes, the test research on the distribution and behavior of radioactive nuclides in environment for the evaluation of exposure dose, the test research on the rate of scattering of RIs, the measurement and dose evaluation of gaseous radioactive nuclides, the research on the measuring techniques for medium and high concentration gaseous tritium, the test research on the evaluation of the effect of low dose radiation on living things, the epidemiological research on low dose effect, the research on the genetic safety of irradiated foods, the test research on the development of radiation sensitizers to cancer cells, the research on the automation and acceleration of the production of short life RI-labeled compounds, the test research on the safety of high performance air filters for nuclear fuel facilities, the test research on the evaluation of the impact properties of nuclear fuel-transporting casks loaded on vehicles, the research on the application of improved security measures to large scale reprocessing facilities, and the test research on the protection capability of countercollision structures for nuclear ships are outlined. (Kako, I.)

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)…

Research for genetic instability of human genome

Energy Technology Data Exchange (ETDEWEB)

Hori, T.; Takahashi, E.; Tsuji, H.; Yamauchi, M. (National Inst. of Radiological Sciences, Chiba (Japan)); Murata, M.

1992-01-01

In the present review paper, the potential relevance of chromosomal fragile sites to carcinogenesis and mutagenesis is discussed based on our own and other's studies. Recent evidence indicate that fragile sites may act as predisposition factors involved in chromosomal instability of the human genome and that the sites may be preferential targets for various DNA damaging agents including ionizing radiation. It is also demonstrated that some critical genomic rearrangements at the fragile sites may contribute towards oncogenesis and that individuals carrying heritable form of fragile site may be at the risk. Although clinical significance of autosomal fragile sites has been a matter of discussion, a fragile site of the X chromosome is known to be associated with an X-linked genetic diseases, called fragile X syndrome. Molecular events leading to the fragile X syndrome have recently been elucidated. The fragile X genotype can be characterized by an increased amount of p(CCG)n repeat DNA sequence in the FMR-1 gene and the repeated sequences are shown to be unstable in both meiosis and mitosis. These repeats might exhibit higher mutation rate than is generally seen in the human genome. Further studies on the fragile sites in molecular biology and radiation biology will yield relevant data to the molecular mechanisms of genetic instability of the human genome as well as to better assessment of genetic effect of ionizing radiation. (author).

Insect-resistant genetically modified rice in China: from research to commercialization.

Science.gov (United States)

Chen, Mao; Shelton, Anthony; Ye, Gong-yin

2011-01-01

From the first insect-resistant genetically modified (IRGM) rice transformation in 1989 in China to October 2009 when the Chinese Ministry of Agriculture issued biosafety certificates for commercial production of two cry1Ab/Ac Bacillus thuringiensis (Bt) lines, China made a great leap forward from IRGM rice basic research to potential commercialization of the world's first IRGM rice. Research has been conducted on developing IRGM rice, assessing its environmental and food safety impacts, and evaluating its socioeconomic consequences. Laboratory and field tests have confirmed that these two Bt rice lines can provide effective and economic control of the lepidopteran complex on rice with less risk to the environment than present practices. Commercializing these Bt plants, while developing other GM plants that address the broader complex of insects and other pests, will need to be done within a comprehensive integrated pest management program to ensure the food security of China and the world.

Cordova: web-based management of genetic variation data.

Science.gov (United States)

Ephraim, Sean S; Anand, Nikhil; DeLuca, Adam P; Taylor, Kyle R; Kolbe, Diana L; Simpson, Allen C; Azaiez, Hela; Sloan, Christina M; Shearer, A Eliot; Hallier, Andrea R; Casavant, Thomas L; Scheetz, Todd E; Smith, Richard J H; Braun, Terry A

2014-12-01

Cordova is an out-of-the-box solution for building and maintaining an online database of genetic variations integrated with pathogenicity prediction results from popular algorithms. Our primary motivation for developing this system is to aid researchers and clinician-scientists in determining the clinical significance of genetic variations. To achieve this goal, Cordova provides an interface to review and manually or computationally curate genetic variation data as well as share it for clinical diagnostics and the advancement of research. Cordova is open source under the MIT license and is freely available for download at https://github.com/clcg/cordova. Published by Oxford University Press. This work is written by US Government employees and is in the public domain in the US.

[Research progress in genetic abnormalities and etiological factors of congenital anorectal malformation].

Science.gov (United States)

Zhang, Yanli; Ren, Hongxia

2016-01-01

Congenital anorectal malformation (ARM) is one of the most common gastrointestinal congenital diseases, accounting for 1/4 in digestive tract malformation, and is one of the congenital malformations in routine surveillance by the World Health Organization. Because of the variety of risk factors and the complexity of the pathological changes, etiology of ARM is still not clear. It is mostly considered that ARM is resulted from hereditary factors and environmental factors in the development of embryogenesis. Through animal experiments, scholars have found that Hox, Shh, Fgf, Wnt, Cdx and TCF4, Eph and ephrin play crucial role during the development of digestive tract. When the genes/signaling pathway dysfunction occurs, ARM may happen. In addition, ARM is related to the external factors in pregnancy. Because of the complexity of related factors in the development of human embryogenesis, the research progress of human ARM is very slow. This paper reviews relevant literatures in genetic factors and environmental factors, in order to provide the theoretical basis for the treatment and prevention of ARM.

Understanding the cognitive and genetic underpinnings of procrastination: Evidence for shared genetic influences with goal management and executive function abilities.

Science.gov (United States)

Gustavson, Daniel E; Miyake, Akira; Hewitt, John K; Friedman, Naomi P

2015-12-01

Previous research has suggested that individual differences in procrastination are tied to everyday goal-management abilities, but little research has been conducted on specific cognitive abilities that may underlie tendencies for procrastination, such as executive functions (EFs). In this study, we used behavioral genetics methodology to investigate 2 hypotheses about the relationships between procrastination and EF ability: (a) that procrastination is negatively correlated with general EF ability, and (b) that this relationship is due to the genetic components of procrastination that are most related to other everyday goal-management abilities. The results confirmed both of these hypotheses. Procrastination was related to worse general EF ability at both the phenotypic and genetic levels, and this relationship was due to the component of procrastination shared with self-report measures of everyday goal-management failures. These results were observed even after controlling for potential self-report biases stemming from the urge to respond in a socially desirable manner. Together, these findings provide strong evidence for growing theories of procrastination emphasizing the importance of goal-related cognitive abilities and further highlight important genetic influences that underlie procrastination. (c) 2015 APA, all rights reserved).

Genetic distance estimates and variable factors distinguishing between goat Kacang, Muara and Samosir

Science.gov (United States)

Hamdan; Saputra, H.; Mirwandhono, E.; Hasnudi; Sembiring, I.; Umar, S.; Ginting, N.; Alwiyah

2018-02-01

The purpose of this research was to look the genetic distance and factors distinguishing variable betwen types of goats in North Sumatera. This research have been conducted in PayaBakung, Hamparan Perak and Klambir Lima village, Deli Serdang district, Batu Binumbun, Aritonang, HutaGinjang village, Muarasubdistrict, North Tapanuli district and ParbabaDolok, Siopat Sosor, Sinabulan village, Ronggur Nihuta Pangururan village, Sitonggi-tonggi village in the subdistrict RonggurNihuta, Samosir district of the month of July 2016. The data was analyzed using descriptive, discriminants, canonical, Principal Component Analysis, Distance genetic and Tree Phylogenetic. The result showed that the nearest genetic distance goat found in Kacang and Samosir (1.973), and the farthest genetic distnace find in Samosir and Muara (8.671). The variables made it difference was goat race Base Rim Horn (0.856) and Long Horn (0.878). Genetic distance values most far between Muaragoat with Samosir goat was (8.671). The conclude that the crossing superior result, must be cross between two goat types with value genetics most distance. It will have a better chance heterosis in cross result.

Search Results | IDRC - International Development Research Centre

International Development Research Centre (IDRC) Digital Library (Canada)

Results 1 - 10 of 9580 ... New partnership to support Ebola research teams ... population health research, and/or social science research in th ... Journal articles ... is a highly configurable open source electronic medical record system focused on ...

US genetic regulations: bacterial field trial to go ahead.

Science.gov (United States)

Budiansky, S

The National Institutes of Health's Recombinant DNA Advisory Committee (RAC) has approved a commercial proposal by Advanced Genetic Sciences Inc. to field-test recombinant ice-nucleating bacteria. Its decision came two weeks after a federal judge halted a similar trial by researchers from the University of California at Berkeley, and barred RAC from approving other federally-funded research that would release genetically-engineered organisms into the environment. The ruling, which resulted from an action filed by activist Jeremy Rifkin, exempted privately-funded research. RAC will continue to review commercial proposals, which are submitted voluntarily and are not legally bound by the committee decisions.

Does a medical history of hypertension influence disclosing genetic testing results of the risk for salt-sensitive hypertension, in primary care?

Directory of Open Access Journals (Sweden)

Okayama M

2016-07-01

Full Text Available Masanobu Okayama,1,2 Taro Takeshima,2 Masanori Harada,3 Ryusuke Ae,4 Eiji Kajii2 1Division of Community Medicine and Medical Education, Kobe University Graduate School of Medicine, Kobe, Hyogo, 2Division of Community and Family Medicine, Center for Community Medicine, Jichi Medical University, Shimotsuke, Tochigi, 3Department of Support of Rural Medicine, Yamaguchi Grand Medical Center, Hofu, Yamaguchi, 4Division of Public Health, Center for Community Medicine, Jichi Medical University, Shimotsuke, Tochigi, Japan Objective: Disclosing genetic testing results may contribute to the prevention and management of many common diseases. However, whether the presence of a disease influences these effects is unclear. This study aimed to clarify the difference in the effects of disclosing genetic testing results of the risk for developing salt-sensitive hypertension on the behavioral modifications with respect to salt intake in hypertensive and nonhypertensive patients.Methods: A cross-sectional study using a self-administered questionnaire was conducted for outpatients aged >20 years (N=2,237 at six primary care clinics and hospitals in Japan. The main factors assessed were medical histories of hypertension, salt preferences, reduced salt intakes, and behavior modifications for reducing salt intake. Behavioral modifications of participants were assessed using their behavior stages before and after disclosure of the hypothetical genetic testing results. Results: Of the 2,237 participants, 1,644 (73.5% responded to the survey. Of these respondents, 558 (33.9% patients were hypertensive and 1,086 (66.1% were nonhypertensive. After being notified of the result “If with genetic risk”, the nonhypertensive participants were more likely to make positive behavioral modifications compared to the hypertensive patients among all participants and in those aged <65 years (adjusted relative ratio [ad-RR], 1.76; 95% confidence interval, 1.12−2.76 and ad-RR, 1

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.

Evaluating human genetic diversity

National Research Council Canada - National Science Library

This book assesses the scientific value and merit of research on human genetic differences--including a collection of DNA samples that represents the whole of human genetic diversity--and the ethical...

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

Directory of Open Access Journals (Sweden)

ELIZA CAUIA

2008-10-01

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.

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.

Confidence crisis of results in biomechanics research.

Science.gov (United States)

Knudson, Duane

2017-11-01

Many biomechanics studies have small sample sizes and incorrect statistical analyses, so reporting of inaccurate inferences and inflated magnitude of effects are common in the field. This review examines these issues in biomechanics research and summarises potential solutions from research in other fields to increase the confidence in the experimental effects reported in biomechanics. Authors, reviewers and editors of biomechanics research reports are encouraged to improve sample sizes and the resulting statistical power, improve reporting transparency, improve the rigour of statistical analyses used, and increase the acceptance of replication studies to improve the validity of inferences from data in biomechanics research. The application of sports biomechanics research results would also improve if a larger percentage of unbiased effects and their uncertainty were reported in the literature.

Shedding subspecies: The influence of genetics on reptile subspecies taxonomy.

Science.gov (United States)

Torstrom, Shannon M; Pangle, Kevin L; Swanson, Bradley J

2014-07-01

The subspecies concept influences multiple aspects of biology and management. The 'molecular revolution' altered traditional methods (morphological traits) of subspecies classification by applying genetic analyses resulting in alternative or contradictory classifications. We evaluated recent reptile literature for bias in the recommendations regarding subspecies status when genetic data were included. Reviewing characteristics of the study, genetic variables, genetic distance values and noting the species concepts, we found that subspecies were more likely elevated to species when using genetic analysis. However, there was no predictive relationship between variables used and taxonomic recommendation. There was a significant difference between the median genetic distance values when researchers elevated or collapsed a subspecies. Our review found nine different concepts of species used when recommending taxonomic change, and studies incorporating multiple species concepts were more likely to recommend a taxonomic change. Since using genetic techniques significantly alter reptile taxonomy there is a need to establish a standard method to determine the species-subspecies boundary in order to effectively use the subspecies classification for research and conservation purposes. Copyright © 2014 Elsevier Inc. All rights reserved.

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.

Institutional review board perspectives on obligations to disclose genetic incidental findings to research participants.

Science.gov (United States)

Gliwa, Catherine; Yurkiewicz, Ilana R; Lehmann, Lisa Soleymani; Hull, Sara Chandros; Jones, Nathan; Berkman, Benjamin E

2016-07-01

Researchers' obligations to disclose genetic incidental findings (GIFs) have been widely debated, but there has been little empirical study of the engagement of institutional review boards (IRBs) with this issue. This article presents data from the first extensive (n = 796) national survey of IRB professionals' understanding of, experience with, and beliefs surrounding GIFs. Most respondents had dealt with questions about GIFs (74%), but only a minority (47%) felt prepared to address them. Although a majority believed that there is an obligation to disclose GIFs (78%), there is still not consensus about the supporting ethical principles. Respondents generally did not endorse the idea that researchers' additional time and effort (7%), and lack of resources (29%), were valid reasons for diminishing a putative obligation. Most (96%) supported a right not to know, but this view became less pronounced (63%) when framed in terms of specific case studies. IRBs are actively engaged with GIFs but have not yet reached consensus. Respondents were uncomfortable with arguments that could be used to limit an obligation to return GIFs. This could indicate that IRBs are providing some of the impetus for the trend toward returning GIFs, although questions remain about the relative contribution of other stakeholders.Genet Med 18 7, 705-711.

Genetic basis of arrhythmogenic cardiomyopathy.

Science.gov (United States)

Karmouch, Jennifer; Protonotarios, Alexandros; Syrris, Petros

2018-05-01

To date 16 genes have been associated with arrhythmogenic cardiomyopathy (ACM). Mutations in these genes can lead to a broad spectrum of phenotypic expression ranging from disease affecting predominantly the right or left ventricle, to biventricular subtypes. Understanding the genetic causes of ACM is important in diagnosis and management of the disorder. This review summarizes recent advances in molecular genetics and discusses the application of next-generation sequencing technology in genetic testing in ACM. Use of next-generation sequencing methods has resulted in the identification of novel causative variants and genes for ACM. The involvement of filamin C in ACM demonstrates the genetic overlap between ACM and other types of cardiomyopathy. Putative pathogenic variants have been detected in cadherin 2 gene, a protein involved in cell adhesion. Large genomic rearrangements in desmosome genes have been systematically investigated in a cohort of ACM patients. Recent studies have identified novel causes of ACM providing new insights into the genetic spectrum of the disease and highlighting an overlapping phenotype between ACM and dilated cardiomyopathy. Next-generation sequencing is a useful tool for research and genetic diagnostic screening but interpretation of identified sequence variants requires caution and should be performed in specialized centres.

Genetic Pathways to Insomnia

OpenAIRE

Mackenzie J. Lind; Philip R. Gehrman

2016-01-01

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 identif...

Consideration of genetic contributions to the risk for spasmodic dysphonia.

Science.gov (United States)

Sharma, Nutan; Franco, Ramon A

2011-09-01

Spasmodic dysphonia, a form of the neurologic condition known as dystonia, results from involuntary spasms of the larynx, producing interruptions of speech and changes in voice quality. The pathogenesis of spasmodic dysphonia is not well understood. However, several genetic mutations have been identified that cause different forms of dystonia. In some individuals, these genetic mutations result in spasmodic dysphonia, either with no other signs of dystonia or as part of a broader dystonia phenotype. Thus, research in the growing field of dystonia genetics may help to inform our understanding of the pathogenesis of spasmodic dysphonia.

Genetic composition of laboratory stocks of the self-fertilizing fish Kryptolebias marmoratus: a valuable resource for experimental research.

Directory of Open Access Journals (Sweden)

Andrey Tatarenkov

2010-09-01

Full Text Available The hermaphroditic Mangrove Killifish, Kryptolebias marmoratus, is the world's only vertebrate that routinely self-fertilizes. As such, highly inbred and presumably isogenic "clonal" lineages of this androdioecious species have long been maintained in several laboratories and used in a wide variety of experiments that require genetically uniform vertebrate specimens. Here we conduct a genetic inventory of essentially all laboratory stocks of the Mangrove Killifish held worldwide. At 32 microsatellite loci, these stocks proved to show extensive interline differentiation as well as some intraline variation, much of which can be attributed to post-origin de novo mutations and/or to the segregation of polymorphisms from wild progenitors. Our genetic findings also document that many of the surveyed laboratory strains are not what they have been labeled, apparently due to the rather frequent mishandling or unintended mixing of various laboratory stocks over the years. Our genetic inventory should help to clarify much of this confusion about the clonal identities and genetic relationships of laboratory lines, and thereby help to rejuvenate interest in K. marmoratus as a reliable vertebrate model for experimental research that requires or can capitalize upon "clonal" replicate specimens.

The development of metacognitive-based genetic learning ...

African Journals Online (AJOL)

The development of metacognitive-based genetic learning Instruments at senior ... The results of the research are learning instrument product and textbook whose ... that these instruments have satisfied the criteria: very valid and very ideal.

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.

"It's good to know": experiences of gene identification and result disclosure in familial epilepsies.

Science.gov (United States)

Vears, Danya F; Dunn, Karen L; Wake, Samantha A; Scheffer, Ingrid E

2015-05-01

Recognition of the role of genetics in the epilepsies has increased dramatically, impacting on clinical practice across many epilepsy syndromes. There is limited research investigating the impact of gene identification on individuals and families with epilepsy. While research has focused on the impact of delivering genetic information to families at the time of diagnosis in genetic diseases more broadly, little is known about how genetic results in epileptic diseases influences people's lives many years after it has been conveyed. This study used qualitative methods to explore the experience of receiving a genetic result in people with familial epilepsy. Interviews were conducted with individuals with familial epilepsies in whom the underlying genetic mutation had been identified. Recorded interviews underwent thematic analysis. 20 individuals from three families with different epilepsy syndromes and causative genes were interviewed. Multiple generations within families were studied. The mean time from receiving the genetic result prior to interview was 10.9 years (range 5-14 years). Three major themes were identified: 1) living with epilepsy: an individual's experience of the severity of epilepsy in their family influenced their view. 2) Clinical utility of the test: participants expressed varying reactions to receiving a genetic result. While for some it provided helpful information and relief, others were not surprised by the finding given the familial context. Some valued the use of genetic information for reproductive decision-making, particularly in the setting of severely affected family members. While altruistic reasons for participating in genetic research were discussed, participants emphasised the benefit of participation to them and their families. 3) 'Talking about the family genes': individuals reported poor communication between family members about their epilepsy and its genetic implications. The results provide important insights into the family

Arthritis Genetics Analysis Aids Drug Discovery

Science.gov (United States)

... NIH Research Matters January 13, 2014 Arthritis Genetics Analysis Aids Drug Discovery An international research team identified 42 new ... Edition Distracted Driving Raises Crash Risk Arthritis Genetics Analysis Aids Drug Discovery Oxytocin Affects Facial Recognition Connect with Us ...

Fitting the pieces together: current research on the genetic basis of attention-deficit/hyperactivity disorder (ADHD

Directory of Open Access Journals (Sweden)

Evangelia Stergiakouli

2010-08-01

Full Text Available Evangelia Stergiakouli, Anita ThaparDepartment of Psychological Medicine and Neurology, MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, United KingdomAbstract: Attention-deficit/hyperactivity disorder (ADHD is a highly disruptive childhood-onset disorder that often persists into adolescence and adulthood. Comorbidity with other problems, such as autism, dyslexia and conduct disorder (CD is very common. Although little is known about the pathophysiology of ADHD, family, twin and adoption studies have shown that it is highly heritable. Whole genome linkage studies suggest there are no common susceptibility genes of moderate effect size. Most published research has been based on functional candidate gene studies. The most consistent evidence for association with ADHD relates to a dopamine D4 receptor (DRD4 gene variable number tandem repeat (VNTR, a dopamine D5 receptor (DRD5 gene microsatellite and a dopamine transporter (DAT1 gene VNTR. In addition, the catechol-O-methyltransferase (COMT val158/108 met variant has been shown to increase risk for associated antisocial behavior. The first genome-wide association studies (GWAS of ADHD have been completed and although larger studies are still required to detect common risk variants, novel risk pathways are being suggested for ADHD. Further research on the contribution of rare variants, larger genome-wide association and sequencing studies and ADHD phenotype refinement is now needed.Keywords: attention-deficit/hyperactivity disorder (ADHD, genetics, molecular genetics, genome-wide association study (GWAS, gene-environment interplay

Genetic sexing of the Mediterranean fruit fly

International Nuclear Information System (INIS)

1990-01-01

In the early 1980s, it was recognized by the FAO and the IAEA that a genetic sexing method for the Mediterranean fruit fly (medfly) would greatly improve the efficacy of the medfly sterile insect technique (SIT) and reduce its costs. These Proceedings summarize the research and development findings of the Agency's co-operators in the co-ordinated research programme to develop a genetic sexing method for the medfly. Great progress has been made in many aspects of medfly genetics. including the development of a number of genetic sexing strains. Contents: Genetics, Cytogenetics and Population Genetics. Genetic Sexing of Ceratitis Capitata by Morphological, Biochemical and other means. Recommendations. Refs, figs and tabs

Personality and divorce: a genetic analysis.

Science.gov (United States)

Jocklin, V; McGue, M; Lykken, D T

1996-08-01

M. McGue and D.T. Lykken (1992) found that divorce risk was, to a substantial degree, genetically mediated; prior research has identified numerous social and psychological factors that affect divorce risk (G.C. Kitson, K.B. Barbi, & M.J. Roach, 1985). The present study attempted to link these domains by examining the extent to which genetic influences on one such psychological factor, personality, explain divorce risk heritability. A sample of adult twins from the Minnesota Twin Registry completed a marital history questionnaire and the Multidimensional Personality Questionnaire (A. Tellegen, 1982). Positive Emotionality and Negative Emotionality factors were positively related to divorce risk, whereas Constraint was negatively related. In women and men, respectively, 30% and 42% of the heritability of divorce risk consisted of genetic factors affecting personality and divorce risk correlated largely as a result of these common genetic influences.

Genetics

International Nuclear Information System (INIS)

Hubitschek, H.E.

1975-01-01

Progress is reported on the following research projects: genetic effects of high LET radiations; genetic regulation, alteration, and repair; chromosome replication and the division cycle of Escherichia coli; effects of radioisotope decay in the DNA of microorganisms; initiation and termination of DNA replication in Bacillus subtilis; mutagenesis in mouse myeloma cells; lethal and mutagenic effects of near-uv radiation; effect of 8-methoxypsoralen on photodynamic lethality and mutagenicity in Escherichia coli; DNA repair of the lethal effects of far-uv; and near uv irradiation of bacterial cells

A multiobjective approach to the genetic code adaptability problem.

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de Oliveira, Lariza Laura; de Oliveira, Paulo S L; Tinós, Renato

2015-02-19

The organization of the canonical code has intrigued researches since it was first described. If we consider all codes mapping the 64 codes into 20 amino acids and one stop codon, there are more than 1.51×10(84) possible genetic codes. The main question related to the organization of the genetic code is why exactly the canonical code was selected among this huge number of possible genetic codes. Many researchers argue that the organization of the canonical code is a product of natural selection and that the code's robustness against mutations would support this hypothesis. In order to investigate the natural selection hypothesis, some researches employ optimization algorithms to identify regions of the genetic code space where best codes, according to a given evaluation function, can be found (engineering approach). The optimization process uses only one objective to evaluate the codes, generally based on the robustness for an amino acid property. Only one objective is also employed in the statistical approach for the comparison of the canonical code with random codes. We propose a multiobjective approach where two or more objectives are considered simultaneously to evaluate the genetic codes. In order to test our hypothesis that the multiobjective approach is useful for the analysis of the genetic code adaptability, we implemented a multiobjective optimization algorithm where two objectives are simultaneously optimized. Using as objectives the robustness against mutation with the amino acids properties polar requirement (objective 1) and robustness with respect to hydropathy index or molecular volume (objective 2), we found solutions closer to the canonical genetic code in terms of robustness, when compared with the results using only one objective reported by other authors. Using more objectives, more optimal solutions are obtained and, as a consequence, more information can be used to investigate the adaptability of the genetic code. The multiobjective approach

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

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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.

Mapping public policy on genetics.

Science.gov (United States)

Weisfeld, N E

2002-06-01

The mapping of the human genome and related advances in genetics are stimulating the development of public policies on genetics. Certain notions that currently prevail in public policy development overall--including the importance of protecting privacy of information, an interest in cost-effectiveness, and the power of the anecdote--will help determine the future of public policy on genetics. Information areas affected include discrimination by insurers and employers, confidentiality, genetic databanks, genetic testing in law enforcement, and court-ordered genetic testing in civil cases. Service issues address clinical standards, insurance benefits, allocation of resources, and screening of populations at risk. Supply issues encompass funding of research and clinical positions. Likely government actions include, among others: (1) Requiring individual consent for the disclosure of personal information, except when such consent would impose inordinate costs; (2) licensing genetic databases; (3) allowing courts to use personal information in cases where a refusal to use such information would offend the public; (4) mandating health insurers to pay for cost-effective genetic services; (5) funding pharmaceutical research to develop tailored products to prevent or treat diseases; and (6) funding training programs.

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.

Genetic Discrimination: A Legal Or Biological Issue?

Directory of Open Access Journals (Sweden)

Bárbara Augusta de Paula Araujo Myssior

2016-12-01

Full Text Available This essay debates the technological evolution that, from the decoding of the human genome has opened up many scientific benefits, and yet brings up a new kind of segregation: genetic discrimination. Based on the right to privacy, as well as the concept of genetic identity, as well as data protection and information, worked up the genetic discrimination. Therefore, documentary research and critical analysis of scientific papers were taken, using up of the inductive reasoning method. As a result, elucidate how such discrimination affects individuals, it is possible to conclude that regardless of the type of discrimination, all should be restrained by law.

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.

Is Neurofibromatosis Type 1-Noonan Syndrome a Phenotypic Result of Combined Genetic and Epigenetic Factors?

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Yapijakis, Christos; Pachis, Nikos; Natsis, Stavros; Voumvourakis, Costas

2016-01-01

Neurofibromatosis 1-Noonan syndrome (NFNS) presents combined characteristics of both autosomal dominant disorders: NF1 and Noonan syndrome (NS). The genes causing NF1 and NS are located on different chromosomes, making it uncertain whether NFNS is a separate entity as previously suggested, or rather a clinical variation. We present a four-membered Greek family. The father was diagnosed with familial NF1 and the mother with generalized epilepsy, being under hydantoin treatment since the age of 18 years. Their two male children exhibited NFNS characteristics. The father and his sons shared R1947X mutation in the NF1 gene. The two children with NFNS phenotype presented with NF1 signs inherited from their father and fetal hydantoin syndrome-like phenotype due to exposure to that anticonvulsant during fetal development. The NFNS phenotype may be the result of both a genetic factor (mutation in the NF1 gene) and an epigenetic/environmental factor (e.g. hydantoin). Copyright © 2016 International Institute of Anticancer Research (Dr. John G. Delinassios), All rights reserved.

GRFT – Genetic records family tree web applet

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Samuel ePimentel

2011-03-01

Full Text Available Current software for storing and displaying records of genetic crosses does not provide an easy way to determine the lineage of an individual. The genetic records family tree (GRFT applet processes records of genetic crosses and allows researchers to quickly visualize lineages using a family tree construct and to access other information from these records using any Internet browser. Users select from three display features: 1 a family tree view which displays a color-coded family tree for an individual, 2 a sequential list of crosses, and 3 a list of crosses matching user-defined search criteria. Each feature contains options to specify the number of records shown and the latter two contain an option to filter results by the owner of the cross. The family tree feature is interactive, displaying a popup box with genetic information when the user mouses over an individual and allowing the user to draw a new tree by clicking on any individual in the current tree. The applet is written in Javascript and reads genetic records from a tab-delimited text file on the server, so it is cross-platform, can be accessed by anyone with an Internet connection, and supports almost instantaneous generation of new trees and table lists. Researchers can use the tool with their own genetic cross records for any sexually-reproducing organism. No additional software is required and with only minor modifications to the script, researchers can add their own custom columns. GRFT's speed, versatility, and low overhead make it an effective and innovative visualization method for genetic records. A sample tool is available at http://stanford.edu/~walbot/grft-sample.html.

F8 haplotype and inhibitor risk: results from the Hemophilia Inhibitor Genetics Study (HIGS) Combined Cohort

Science.gov (United States)

Schwarz, John; Astermark, Jan; Menius, Erika D.; Carrington, Mary; Donfield, Sharyne M.; Gomperts, Edward D.; Nelson, George W.; Oldenburg, Johannes; Pavlova, Anna; Shapiro, Amy D.; Winkler, Cheryl A.; Berntorp, Erik

2012-01-01

Background Ancestral background, specifically African descent, confers higher risk for development of inhibitory antibodies to factor VIII (FVIII) in hemophilia A. It has been suggested that differences in the distribution of factor VIII gene (F8) haplotypes, and mismatch between endogenous F8 haplotypes and those comprising products used for treatment could contribute to risk. Design and Methods Data from the HIGS Combined Cohort were used to determine the association between F8 haplotype 3 (H3) vs. haplotypes 1 and 2 (H1+H2) and inhibitor risk among individuals of genetically-determined African descent. Other variables known to affect inhibitor risk including type of F8 mutation and HLA were included in the analysis. A second research question regarding risk related to mismatch in endogenous F8 haplotype and recombinant FVIII products used for treatment was addressed. Results H3 was associated with higher inhibitor risk among those genetically-identified (N=49) as of African ancestry, but the association did not remain significant after adjustment for F8 mutation type and the HLA variables. Among subjects of all racial ancestries enrolled in HIGS who reported early use of recombinant products (N=223), mismatch in endogenous haplotype and the FVIII proteins constituting the products used did not confer greater risk for inhibitor development. Conclusion H3 was not an independent predictor of inhibitor risk. Further, our findings did not support a higher risk of inhibitors in the presence of a haplotype mismatch between the FVIII molecule infused and that of the individual. PMID:22958194

Algebras in genetics

CERN Document Server

Wörz-Busekros, Angelika

1980-01-01

The purpose of these notes is to give a rather complete presentation of the mathematical theory of algebras in genetics and to discuss in detail many applications to concrete genetic situations. Historically, the subject has its origin in several papers of Etherington in 1939- 1941. Fundamental contributions have been given by Schafer, Gonshor, Holgate, Reiers¢l, Heuch, and Abraham. At the moment there exist about forty papers in this field, one survey article by Monique Bertrand from 1966 based on four papers of Etherington, a paper by Schafer and Gonshor's first paper. Furthermore Ballonoff in the third section of his book "Genetics and Social Structure" has included four papers by Etherington and Reiers¢l's paper. Apparently a complete review, in par­ ticular one comprising more recent results was lacking, and it was difficult for students to enter this field of research. I started to write these notes in spring 1978. A first german version was finished at the end of that year. Further revision and tran...

Genetic educational needs and the role of genetics in primary care: a focus group study with multiple perspectives

Directory of Open Access Journals (Sweden)

van der Vleuten Cees

2011-02-01

Full Text Available Abstract Background Available evidence suggests that improvements in genetics education are needed to prepare primary care providers for the impact of ongoing rapid advances in genomics. Postgraduate (physician training and master (midwifery training programmes in primary care and public health are failing to meet these perceived educational needs. The aim of this study was to explore the role of genetics in primary care (i.e. family medicine and midwifery care and the need for education in this area as perceived by primary care providers, patient advocacy groups and clinical genetics professionals. Methods Forty-four participants took part in three types of focus groups: mono-disciplinary groups of general practitioners and midwives, respectively and multidisciplinary groups composed of a diverse set of experts. The focus group sessions were audio-taped, transcribed verbatim and analysed using content analysis. Recurrent themes were identified. Results Four themes emerged regarding the educational needs and the role of genetics in primary care: (1 genetics knowledge, (2 family history, (3 ethical dilemmas and psychosocial effects in relation to genetics and (4 insight into the organisation and role of clinical genetics services. These themes reflect a shift in the role of genetics in primary care with implications for education. Although all focus group participants acknowledged the importance of genetics education, general practitioners felt this need more urgently than midwives and more strongly emphasized their perceived knowledge deficiencies. Conclusion The responsibilities of primary care providers with regard to genetics require further study. The results of this study will help to develop effective genetics education strategies to improve primary care providers' competencies in this area. More research into the educational priorities in genetics is needed to design courses that are suitable for postgraduate and master programmes for

Experimental game theory and behavior genetics.

Science.gov (United States)

Cesarini, David; Dawes, Christopher T; Johannesson, Magnus; Lichtenstein, Paul; Wallace, Björn

2009-06-01

We summarize the findings from a research program studying the heritability of behavior in a number of widely used economic games, including trust, dictator, and ultimatum games. Results from the standard behavior genetic variance decomposition suggest that strategies and fundamental economic preference parameters are moderately heritable, with estimates ranging from 18 to 42%. In addition, we also report new evidence on so-called "hyperfair" preferences in the ultimatum game. We discuss the implications of our findings with special reference to current efforts that seek to understand the molecular genetic architecture of complex social behaviors.

Contribution of genetics to ecological restoration.

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Mijangos, Jose Luis; Pacioni, Carlo; Spencer, Peter B S; Craig, Michael D

2015-01-01

Ecological restoration of degraded ecosystems has emerged as a critical tool in the fight to reverse and ameliorate the current loss of biodiversity and ecosystem services. Approaches derived from different genetic disciplines are extending the theoretical and applied frameworks on which ecological restoration is based. We performed a search of scientific articles and identified 160 articles that employed a genetic approach within a restoration context to shed light on the links between genetics and restoration. These articles were then classified on whether they examined association between genetics and fitness or the application of genetics in demographic studies, and on the way the studies informed restoration practice. Although genetic research in restoration is rapidly growing, we found that studies could make better use of the extensive toolbox developed by applied fields in genetics. Overall, 41% of reviewed studies used genetic information to evaluate or monitor restoration, and 59% provided genetic information to guide prerestoration decision-making processes. Reviewed studies suggest that restoration practitioners often overlook the importance of including genetic aspects within their restoration goals. Even though there is a genetic basis influencing the provision of ecosystem services, few studies explored this relationship. We provide a view of research gaps, future directions and challenges in the genetics of restoration. © 2014 John Wiley & Sons Ltd.

Researcher Story: Stuttering

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Full Text Available ... Health NIH Research Matters NIH Record Research & Training Medical Research Initiatives Science Highlights Science Education Research in ... can. The genetic methods for all sorts of medical genetic disorders have been refined over the past ...

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. © 2014 The Authors. Journal of Child Psychology and Psychiatry. © 2014 Association for Child and Adolescent Mental Health.

Clinical providers' experiences with returning results from genomic sequencing: an interview study.

Science.gov (United States)

Wynn, Julia; Lewis, Katie; Amendola, Laura M; Bernhardt, Barbara A; Biswas, Sawona; Joshi, Manasi; McMullen, Carmit; Scollon, Sarah

2018-05-08

Current medical practice includes the application of genomic sequencing (GS) in clinical and research settings. Despite expanded use of this technology, the process of disclosure of genomic results to patients and research participants has not been thoroughly examined and there are no established best practices. We conducted semi-structured interviews with 21 genetic and non-genetic clinicians returning results of GS as part of the NIH funded Clinical Sequencing Exploratory Research (CSER) Consortium projects. Interviews focused on the logistics of sessions, participant/patient reactions and factors influencing them, how the sessions changed with experience, and resources and training recommended to return genomic results. The length of preparation and disclosure sessions varied depending on the type and number of results and their implications. Internal and external databases, online resources and result review meetings were used to prepare. Respondents reported that participants' reactions were variable and ranged from enthusiasm and relief to confusion and disappointment. Factors influencing reactions were types of results, expectations and health status. A recurrent challenge was managing inflated expectations about GS. Other challenges included returning multiple, unanticipated and/or uncertain results and navigating a rare diagnosis. Methods to address these challenges included traditional genetic counseling techniques and modifying practice over time in order to provide anticipatory guidance and modulate expectations. Respondents made recommendations to improve access to genomic resources and genetic referrals to prepare future providers as the uptake of GS increases in both genetic and non-genetic settings. These findings indicate that returning genomic results is similar to return of results in traditional genetic testing but is magnified by the additional complexity and potential uncertainty of the results. Managing patient expectations, initially

Genetic structure of South African Nguni (Zulu) sheep populations reveals admixture with exotic breeds.

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Selepe, Mokhethi Matthews; Ceccobelli, Simone; Lasagna, Emiliano; Kunene, Nokuthula Winfred

2018-01-01

The population of Zulu sheep is reported to have declined by 7.4% between 2007 and 2011 due to crossbreeding. There is insufficient information on the genetic diversity of the Zulu sheep populations in the different area of KwaZulu Natal where they are reared. The study investigated genetic variation and genetic structure within and among eight Zulu sheep populations using 26 microsatellite markers. In addition, Damara, Dorper and South African Merino breeds were included to assess the genetic relationship between these breeds and the Zulu sheep. The results showed that there is considerable genetic diversity among the Zulu sheep populations (expected heterozygosity ranging from 0.57 to 0.69) and the level of inbreeding was not remarkable. The structure analysis results revealed that Makhathini Research Station and UNIZULU research station share common genetic structure, while three populations (Nongoma, Ulundi and Nquthu) had some admixture with the exotic Dorper breed. Thus, there is a need for sustainable breeding and conservation programmes to control the gene flow, in order to stop possible genetic dilution of the Zulu sheep.

Genetic structure of South African Nguni (Zulu sheep populations reveals admixture with exotic breeds.

Directory of Open Access Journals (Sweden)

Mokhethi Matthews Selepe

Full Text Available The population of Zulu sheep is reported to have declined by 7.4% between 2007 and 2011 due to crossbreeding. There is insufficient information on the genetic diversity of the Zulu sheep populations in the different area of KwaZulu Natal where they are reared. The study investigated genetic variation and genetic structure within and among eight Zulu sheep populations using 26 microsatellite markers. In addition, Damara, Dorper and South African Merino breeds were included to assess the genetic relationship between these breeds and the Zulu sheep. The results showed that there is considerable genetic diversity among the Zulu sheep populations (expected heterozygosity ranging from 0.57 to 0.69 and the level of inbreeding was not remarkable. The structure analysis results revealed that Makhathini Research Station and UNIZULU research station share common genetic structure, while three populations (Nongoma, Ulundi and Nquthu had some admixture with the exotic Dorper breed. Thus, there is a need for sustainable breeding and conservation programmes to control the gene flow, in order to stop possible genetic dilution of the Zulu sheep.

The interaction of genetics and environmental toxicants in amyotrophic lateral sclerosis: results from animal models

Institute of Scientific and Technical Information of China (English)

Roger B. Sher

2017-01-01

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease that results in the progres-sive death of motor neurons, leading to paralysis and eventual death. There is presently no cure for ALS, and only two drugs are available, neither of which provide significant extension of life. The wide variation in onset and progression of the disease, both in sporadic and even in strongly penetrant monogenic famil-ial forms of ALS, indicate that in addition to background genetic variation impacting the disease process, environmental exposures are likely contributors. Epidemiological evidence worldwide implicates exposures to bacterial toxins, heavy metals, pesticides, and trauma as probable environmental factors. Here, we review current advances in gene-environment interactions in ALS animal models. We report our recent discov-eries in a zebrafish model of ALS in relation to exposure to the cyanobacterial toxin BMAA, and discuss several results from mouse models that show interactions with exposure to mercury and statin drugs, both leading to acceleration of the disease process. The increasing research into this combinatorial gene-environ-ment process is just starting, but shows early promise to uncover the underlying biochemical pathways that instigate the initial motor neuron defects and lead to their rapidly progressive dysfunction.

Experiencing the genetic body: parents' encounters with pediatric clinical genetics.

Science.gov (United States)

Raspberry, Kelly; Skinner, Debra

2007-01-01

Because of advancements in genetic research and technologies, the clinical practice of genetics is becoming a prevalent component of biomedicine. As the genetic basis for more and more diseases are found, it is possible that ways of experiencing health, illness, identity, kin relations, and the body are becoming geneticized, or understood within a genetic model of disease. Yet, other models and relations that go beyond genetic explanations also shape interpretations of health and disease. This article explores how one group of individuals for whom genetic disorder is highly relevant formulates their views of the body in light of genetic knowledge. Using data from an ethnographic study of 106 parents or potential parents of children with known or suspected genetic disorders who were referred to a pediatric genetic counseling and evaluation clinic in the southeastern United States, we find that these parents do, to some degree, perceive of their children's disorders in terms of a genetic body that encompasses two principal qualities: a sense of predetermined health and illness and an awareness of a profound historicity that reaches into the past and extends into the present and future. They experience this genetic body as both fixed and historical, but they also express ideas of a genetic body made less deterministic by their own efforts and future possibilities. This account of parents' experiences with genetics and clinical practice contributes to a growing body of work on the ways in which genetic information and technologies are transforming popular and medical notions of the body, and with it, health, illness, kinship relations, and personal and social identities.

Refining and defining riverscape genetics: How rivers influence population genetic structure

Science.gov (United States)

Chanté D. Davis; Clinton W. Epps; Rebecca L. Flitcroft; Michael A. Banks

2018-01-01

Traditional analysis in population genetics evaluates differences among groups of individuals and, in some cases, considers the effects of distance or potential barriers to gene flow. Genetic variation of organisms in complex landscapes, seascapes, or riverine systems, however, may be shaped by many forces. Recent research has linked habitat heterogeneity and landscape...

Aquaculture-oriented genetic researches in abalone: Current status ...

African Journals Online (AJOL)

Taghwo

2013-06-26

Jun 26, 2013 ... Basic genetic and cytogenetic information including polymorphic DNA markers, chromosomes and genome size was ..... Stepto and Cook(1998). H. asinina ... quantity of fertilized eggs and very expensive “French. Press” is ...

Genetic information, non-discrimination, and privacy protections in genetic counseling practice.

Science.gov (United States)

Prince, Anya E R; Roche, Myra I

2014-12-01

The passage of the Genetic Information Non Discrimination Act (GINA) was hailed as a pivotal achievement that was expected to calm the fears of both patients and research participants about the potential misuse of genetic information. However, 6 years later, patient and provider awareness of legal protections at both the federal and state level remains discouragingly low, thereby, limiting their potential effectiveness. The increasing demand for genetic testing will expand the number of individuals and families who could benefit from obtaining accurate information about the privacy and anti-discriminatory protections that GINA and other laws extend. In this paper we describe legal protections that are applicable to individuals seeking genetic counseling, review the literature on patient and provider fears of genetic discrimination and examine their awareness and understandings of existing laws, and summarize how genetic counselors currently discuss genetic discrimination. We then present three genetic counseling cases to illustrate issues of genetic discrimination and provide relevant information on applicable legal protections. Genetic counselors have an unprecedented opportunity, as well as the professional responsibility, to disseminate accurate knowledge about existing legal protections to their patients. They can strengthen their effectiveness in this role by achieving a greater knowledge of current protections including being able to identify specific steps that can help protect genetic information.

Genetic ancestry, social classification, and racial inequalities in blood pressure in Southeastern Puerto Rico.

Directory of Open Access Journals (Sweden)

Clarence C Gravlee

2009-09-01

Full Text Available The role of race in human genetics and biomedical research is among the most contested issues in science. Much debate centers on the relative importance of genetic versus sociocultural factors in explaining racial inequalities in health. However, few studies integrate genetic and sociocultural data to test competing explanations directly.We draw on ethnographic, epidemiologic, and genetic data collected in Southeastern Puerto Rico to isolate two distinct variables for which race is often used as a proxy: genetic ancestry versus social classification. We show that color, an aspect of social classification based on the culturally defined meaning of race in Puerto Rico, better predicts blood pressure than does a genetic-based estimate of continental ancestry. We also find that incorporating sociocultural variables reveals a new and significant association between a candidate gene polymorphism for hypertension (alpha(2C adrenergic receptor deletion and blood pressure.This study addresses the recognized need to measure both genetic and sociocultural factors in research on racial inequalities in health. Our preliminary results provide the most direct evidence to date that previously reported associations between genetic ancestry and health may be attributable to sociocultural factors related to race and racism, rather than to functional genetic differences between racially defined groups. Our results also imply that including sociocultural variables in future research may improve our ability to detect significant allele-phenotype associations. Thus, measuring sociocultural factors related to race may both empower future genetic association studies and help to clarify the biological consequences of social inequalities.

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.

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...... on archaeal ECEs has just started to unravel the molecular biology of these genetic entities and their interactions with archaeal hosts, it is expected to accelerate in the next decade....

Boolean Queries Optimization by Genetic Algorithms

Czech Academy of Sciences Publication Activity Database

Húsek, Dušan; Owais, S.S.J.; Krömer, P.; Snášel, Václav

2005-01-01

Roč. 15, - (2005), s. 395-409 ISSN 1210-0552 R&D Projects: GA AV ČR 1ET100300414 Institutional research plan: CEZ:AV0Z10300504 Keywords : evolutionary algorithms * genetic algorithms * genetic programming * information retrieval * Boolean query Subject RIV: BB - Applied Statistics, Operational Research

Genetics and Insurance in Australia: Concerns around a Self-Regulated Industry.

Science.gov (United States)

Newson, Ainsley J; Tiller, Jane; Keogh, Louise A; Otlowski, Margaret; Lacaze, Paul

2017-01-01

Regulating the use of genetic information in insurance is an issue of ongoing international debate. In Australia, providers of life and other mutually rated insurance products can request applicants to disclose all results from any genetic test. Insurers can then use this information to adjust premiums and make policy decisions. The Australian Financial Services Council (FSC; an industry body) developed and maintains the relevant industry standard, which was updated in late 2016. Aims/Objective: To review the 2016 FSC Standard in light of relevant research and determine the legitimacy of the Australian regulatory environment regarding use of genetic information by insurers. We identified five concerns arising from the 2016 FSC Standard: (1) use of results obtained from research; (2) the requirement for an applicant to disclose whether they are "considering" a genetic test; (3) failure to account for genome sequencing and other technology developments; (4) limited evidence regarding adverse selection; and (5) the inappropriateness of industry self-regulation. Industry self-regulation of the use of genetic information by life insurers, combined with a lack of government oversight, is inappropriate and threatens to impede the progress of genomic medicine in Australia. At this critical time, Australia requires closer government oversight of the use of genetic information in insurance. © 2017 S. Karger AG, Basel.

Feline genetics: clinical applications and genetic testing.

Science.gov (United States)

Lyons, Leslie A

2010-11-01

DNA testing for domestic cat diseases and appearance traits is a rapidly growing asset for veterinary medicine. Approximately 33 genes contain 50 mutations that cause feline health problems or alterations in the cat's appearance. A variety of commercial laboratories can now perform cat genetic diagnostics, allowing both the veterinary clinician and the private owner to obtain DNA test results. DNA is easily obtained from a cat via a buccal swab with a standard cotton bud or cytological brush, allowing DNA samples to be easily sent to any laboratory in the world. The DNA test results identify carriers of the traits, predict the incidence of traits from breeding programs, and influence medical prognoses and treatments. An overall goal of identifying these genetic mutations is the correction of the defect via gene therapies and designer drug therapies. Thus, genetic testing is an effective preventative medicine and a potential ultimate cure. However, genetic diagnostic tests may still be novel for many veterinary practitioners and their application in the clinical setting needs to have the same scrutiny as any other diagnostic procedure. This article will review the genetic tests for the domestic cat, potential sources of error for genetic testing, and the pros and cons of DNA results in veterinary medicine. Highlighted are genetic tests specific to the individual cat, which are a part of the cat's internal genome. Copyright © 2010 Elsevier Inc. All rights reserved.

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

Science.gov (United States)

2013-01-01

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. PMID:23803155

Medical genetics teaching in Iranian medical schools, especially Ahvaz, south of Iran

Directory of Open Access Journals (Sweden)

MAHDI BIJANZADEH

2014-04-01

Full Text Available Introduction: Physicians have to visit, diagnose and refer patients with genetic disorders, so they need to be familiar with the basics and indications of genetic tests. In other words, they should have effective theoretical and practical knowledge about medical genetics before they do their job. Medical genetics courses at Medical Universities of Iran are generally presented as a theoretical subject in the first period of medical education. Methods: In this descriptive research, the results of interviews with teachers of medical genetics in 30 medical schools in Islamic Republic of Iran and responses to a questionnaire by 125 medical students of Ahvaz Jundishapur University of medical sciences, about presentation time, curricula and also efficacy of medical genetics courses were analyzed. The interviews with teachers were done on phone and the students’ comments were collected by a researcher-made questionnaire. The data were analyzed, using SPSS software, version 14. Results: In two thirds of medical universities, medical genetics is taught in the third or fourth semester and in 5 universities in the fifth semester. 86% of the students believed that the quality of genetics courses is moderate and such courses are same as clinical manifestation of genetic disorders are benefitial to medical students. Conclusion: This article suggests that medical genetics be offered in the second or third period of medical education (physiopathology or stagger period. Furthermore, in teaching such courses advanced educational methods (animation presentation, case-based learning, problem-based learning, etc. should be used, together with simple genetic tests in laboratories, the visit of genetic patients in hospitals, and the genetics consult.

NEW MOLECULAR TECHNOLOGIES IN GENETIC DIAGNOSIS OF MALE INFERTILITY

Directory of Open Access Journals (Sweden)

V. B. Chernykh

2017-01-01

Full Text Available In recent years, the accelerated development of technologies in the field of molecular genetics and cytogenetics has led to significant opportunities of the research and diagnosis of mutations and variations of the genome. This article provides a brief review of new molecular technology, also as the results of their use in reproductive medicine and their perspectives in the genetic diagnosis of male infertility. 

Search Results | IDRC - International Development Research Centre

International Development Research Centre (IDRC) Digital Library (Canada)

Results 1 - 10 of 8518 ... Giving girls and women the power to decide. Addressing Africa's unmet need for family planning by intensifying sexual and reproductive and adolescent health research. Research in Action. Health MATERNAL AND CHILD HEALTH ADOLESCENT HEALTH FAMILY PLANNING ...

Core map generation for the ITU TRIGA Mark II research reactor using Genetic Algorithm coupled with Monte Carlo method

Energy Technology Data Exchange (ETDEWEB)

Türkmen, Mehmet, E-mail: tm@hacettepe.edu.tr [Nuclear Engineering Department, Hacettepe University, Beytepe Campus, Ankara (Turkey); Çolak, Üner [Energy Institute, Istanbul Technical University, Ayazağa Campus, Maslak, Istanbul (Turkey); Ergün, Şule [Nuclear Engineering Department, Hacettepe University, Beytepe Campus, Ankara (Turkey)

2015-12-15

Highlights: • Optimum core maps were generated for the ITU TRIGA Mark II Research Reactor. • Calculations were performed using a Monte Carlo based reactor physics code, MCNP. • Single-Objective and Multi-Objective Genetic Algorithms were used for the optimization. • k{sub eff} and ppf{sub max} were considered as the optimization objectives. • The generated core maps were compared with the fresh core map. - Abstract: The main purpose of this study is to present the results of Core Map (CM) generation calculations for the İstanbul Technical University TRIGA Mark II Research Reactor by using Genetic Algorithms (GA) coupled with a Monte Carlo (MC) based-particle transport code. Optimization problems under consideration are: (i) maximization of the core excess reactivity (ρ{sub ex}) using Single-Objective GA when the burned fuel elements with no fresh fuel elements are used, (ii) maximization of the ρ{sub ex} and minimization of maximum power peaking factor (ppf{sub max}) using Multi-Objective GA when the burned fuels with fresh fuels are used. The results were obtained when all the control rods are fully withdrawn. ρ{sub ex} and ppf{sub max} values of the produced best CMs were provided. Core-averaged neutron spectrum, and variation of neutron fluxes with respect to radial distance were presented for the best CMs. The results show that it is possible to find an optimum CM with an excess reactivity of 1.17 when the burned fuels are used. In the case of a mix of burned fuels and fresh fuels, the best pattern has an excess reactivity of 1.19 with a maximum peaking factor of 1.4843. In addition, when compared with the fresh CM, the thermal fluxes of the generated CMs decrease by about 2% while change in the fast fluxes is about 1%.Classification: J. Core physics.

Systematic review on the conservation genetics of African savannah elephants

Directory of Open Access Journals (Sweden)

Daniel Zacarias

2016-10-01

Full Text Available Background In this paper we review the conservation genetics of African savannah elephants, aiming to understand the spatio-temporal research trends and their underlying factors. As such, we explore three questions associated to the conservation genetics and molecular ecology of these elephants: (1 what are the research trends concerning the conservation genetics of Loxodonta africana? (2 Do richer countries conduct more research on the genetics of African elephants? (3 Which attributes influence where scholars conduct their research? Materials and Methods We examined available peer-reviewed publications from 1993 to 2014 in complementary online databases, including the ISI/Web of Science (WoS, Scopus and Google Scholar (GS, and searched for publications in scientific journals as well as in the reference section of these publications. We analyzed the annual trend of publications in this field of research, including the number of authors, levels of collaboration among authors, year of publication, publishing journal and the countries from where genetic samples were collected. Additionally, we identified main research clusters, authors, and institutional collaborations, based on co-citation and co-occurrence networks. Results We found that during the study period there was a positive trend in the number of publications and a reduction in the number of authors per paper. Twenty-five countries contributed, with the majority of publications authored by researchers in the USA, Kenya and South Africa. The majority of samples were collected in Kenya, Tanzania and South Africa. Research outputs are associated with the existence of long-term conservation/research projects and research potential as measured by the literacy rate and the number of higher education institutions in a country. Five research clusters were identified, focusing on the origin and evolution of the species, methodological issues and the relatedness among elephant species. Conclusions

Public understandings of genetics and health.

Science.gov (United States)

Condit, C M

2010-01-01

This review of adult public understandings of genetics related to health indicates that the public's understandings overlap with those of professionals in some areas, but not others. Specifically, the majority of the world's people who have been studied understand genetics through the lens of heredity, not in terms of the structural and functional nature of genes. Public understandings of hereditary processes are influenced by models of social relationships and by experiential familiarity with particular conditions as much as by academic research results. Most people hold a fairly strong belief that many health conditions are substantially influenced by both genes and other factors. However, they do not have a stable understanding of the nature of gene-environment interactions. People in cultures where science is not a prominent cultural mode are even less likely to hold the belief structures of professional geneticists. In some areas--notably with regard to racialization of genetic medicine and characterizations of genetic variations as 'mutations'--at least some members of the public strongly reject some geneticists' constructions. Public understanding of details pertinent to genetic testing generally appears to be weak.

Results of LWR snubber aging research

International Nuclear Information System (INIS)

Brown, D.P.; Werry, E.V.; Blahnik, D.E.

1992-05-01

This report describes the aging research results and recommendations for snubbers used in commercial nuclear power plants. Snubbers are safety-related devices used to restrain undesirable dynamic loads at various piping and equipment locations in nuclear power plants (NPPs). Each snubber must accommodate a plant's normal thermal movements and must be capable of restraining the maximum off-normal dynamic loads, such as a seismic event or a transient, postulated for its specific location. The effects of snubber aging and the factors that contribute to the degradation of their safety performance need to be better understood. Thus, Phase II of Nuclear Plant Aging Research was conducted to enhance the understanding of snubber aging and its consequences. Pacific Northwest Laboratory staff and their subcontractors, Lake Engineering and Wyle Laboratories, visited eight sites (encompassing thirteen plants) to conduct interviews with NPP staff and to collect data on snubber aging, testing, and maintenance. The Phase II research methodology, evaluation, results, conclusions, and recommendations are described in the report. Effective methods for service-life monitoring of snubbers are included in the recommendations

Landscape genetics reveals inbreeding and genetic bottlenecks in the extremely rare short-globose cacti Mammillaria pectinifera (Cactaceae as a result of habitat fragmentation

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Reyna Maya-García

2017-02-01

Full Text Available Mammillaria pectinifera is an endemic, short-globose cactus species, included in the IUCN list as a threatened species with only 18 remaining populations in the Tehuacán-Cuicatlán Valley in central Mexico. We evaluated the population genetic diversity and structure, connectivity, recent bottlenecks and population size, using nuclear microsatellites. M. pectinifera showed high genetic diversity but some evidence of heterozygote deficiency (FIS, recent bottlenecks in some populations and reductions in population size. Also, we found low population genetic differentiation and high values of connectivity for M. pectinifera, as the result of historical events of gene flow through pollen and seed dispersal. M. pectinifera occurs in sites with some degree of disturbance leading to the isolation of its populations and decreasing the levels of gene flow among them. Excessive deforestation also changes the original vegetation damaging the natural habitats. This species will become extinct if it is not properly preserved. Furthermore, this species has some ecological features that make them more vulnerable to disturbance such as a very low growth rates and long life cycles. We suggest in situ conservation to prevent the decrease of population sizes and loss of genetic diversity in the natural protected areas such as the Tehuacán-Cuicatlán Biosphere Reserve. In addition, a long-term ex situ conservation program is need to construct seed banks, and optimize seed germination and plant establishment protocols that restore disturbed habitats. Furthermore, creating a supply of living plants for trade is critical to avoid further extraction of plants from nature.

Genetic diversity among endangered rare Dalbergia cochinchinensis

African Journals Online (AJOL)

hocvan

Experimental Taxonomy and Genetic Diversity, Vietnam National Museum of Nature, Vietnam Academy for Science and ... Genetic diversity of the 35 genotypes of D. cochinchinensis species were evaluated by ...... Dalbergia genus at the population level of genetic .... Population genetic software for teaching and research.

Imaging and cognitive genetics: the Norwegian Cognitive NeuroGenetics sample.

Science.gov (United States)

Espeseth, Thomas; Christoforou, Andrea; Lundervold, Astri J; Steen, Vidar M; Le Hellard, Stephanie; Reinvang, Ivar

2012-06-01

Data collection for the Norwegian Cognitive NeuroGenetics sample (NCNG) was initiated in 2003 with a research grant (to Ivar Reinvang) to study cognitive aging, brain function, and genetic risk factors. The original focus was on the effects of aging (from middle age and up) and candidate genes (e.g., APOE, CHRNA4) in cross-sectional and longitudinal designs, with the cognitive and MRI-based data primarily being used for this purpose. However, as the main topic of the project broadened from cognitive aging to imaging and cognitive genetics more generally, the sample size, age range of the participants, and scope of available phenotypes and genotypes, have developed beyond the initial project. In 2009, a genome-wide association (GWA) study was undertaken, and the NCNG proper was established to study the genetics of cognitive and brain function more comprehensively. The NCNG is now controlled by the NCNG Study Group, which consists of the present authors. Prominent features of the NCNG are the adult life-span coverage of healthy participants with high-dimensional imaging, and cognitive data from a genetically homogenous sample. Another unique property is the large-scale (sample size 300-700) use of experimental cognitive tasks focusing on attention and working memory. The NCNG data is now used in numerous ongoing GWA-based studies and has contributed to several international consortia on imaging and cognitive genetics. The objective of the following presentation is to give other researchers the information necessary to evaluate possible contributions from the NCNG to various multi-sample data analyses.

Results after laparoscopic partial splenectomy for children with hereditary spherocytosis: Are outcomes influenced by genetic mutation?

Science.gov (United States)

Pugi, Jakob; Carcao, Manuel; Drury, Luke J; Langer, Jacob C

2018-05-01

Laparoscopic partial splenectomy (LPS) theoretically maintains long-term splenic immune function for children with hereditary spherocytosis (HS). Our goal was to review our results after LPS and to determine if specific genetic mutations influence outcome. All children with HS undergoing LPS between 2005 and 2016 were reviewed. Thirty-one children underwent LPS (16 male) at a median age of 9 (range 2-18) years. All experienced an increase in hemoglobin and decrease in reticulocyte count early after LPS and at last follow-up. Twenty-two were sent for genetic analysis. Mutations in α-spectrin, β-spectrin, and Ankyrin were identified in 6, 5, and 11 patients, respectively. Gene mutation was not correlated with complications, perioperative transfusion, length of hospital stay, or median hemoglobin, platelet, or reticulocyte counts. Three children required completion splenectomy at 10.9, 6.9, and 3.2years post-LPS, each with a different gene mutation. LPS is effective in reversing anemia and reducing reticulocytosis. So far less than 10% have required completion splenectomy, and those children did benefit from delaying the risks of asplenia. In this preliminary analysis, genetic mutation did not influence outcome after LPS. A larger multicenter study is necessary to further investigate potential correlations with specific genetic mutations. Prognosis Study. IV. Copyright © 2018. Published by Elsevier Inc.

Innovation Impact: Breakthrough Research Results (Brochure)

Energy Technology Data Exchange (ETDEWEB)

2013-07-01

The Innovation Impact brochure captures key breakthrough results across NREL's primary areas of renewable energy and energy efficiency research: solar, wind, bioenergy, transportation, buildings, analysis, and manufacturing technologies.

Homogenous Population Genetic Structure of the Non-Native Raccoon Dog (Nyctereutes procyonoides) in Europe as a Result of Rapid Population Expansion

Science.gov (United States)

Drygala, Frank; Korablev, Nikolay; Ansorge, Hermann; Fickel, Joerns; Isomursu, Marja; Elmeros, Morten; Kowalczyk, Rafał; Baltrunaite, Laima; Balciauskas, Linas; Saarma, Urmas; Schulze, Christoph; Borkenhagen, Peter; Frantz, Alain C.

2016-01-01

The extent of gene flow during the range expansion of non-native species influences the amount of genetic diversity retained in expanding populations. Here, we analyse the population genetic structure of the raccoon dog (Nyctereutes procyonoides) in north-eastern and central Europe. This invasive species is of management concern because it is highly susceptible to fox rabies and an important secondary host of the virus. We hypothesized that the large number of introduced animals and the species’ dispersal capabilities led to high population connectivity and maintenance of genetic diversity throughout the invaded range. We genotyped 332 tissue samples from seven European countries using 16 microsatellite loci. Different algorithms identified three genetic clusters corresponding to Finland, Denmark and a large ‘central’ population that reached from introduction areas in western Russia to northern Germany. Cluster assignments provided evidence of long-distance dispersal. The results of an Approximate Bayesian Computation analysis supported a scenario of equal effective population sizes among different pre-defined populations in the large central cluster. Our results are in line with strong gene flow and secondary admixture between neighbouring demes leading to reduced genetic structuring, probably a result of its fairly rapid population expansion after introduction. The results presented here are remarkable in the sense that we identified a homogenous genetic cluster inhabiting an area stretching over more than 1500km. They are also relevant for disease management, as in the event of a significant rabies outbreak, there is a great risk of a rapid virus spread among raccoon dog populations. PMID:27064784

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

Genetics, genomes and cloning the biotechnology revolution

CERN Document Server

CERN. Geneva

1999-01-01

As this century draws to a close, spectacular advances in the fields of genomics and genetics are opening up dramatic new horizons for medicine. For much of the 20th century, genetic research has focused on rare diseases caused by mutations in a particular gene. However, more recently it has been realised that common genetic variations (polymorphisms), interacting with the environment, can influence an individual's susceptibility to diseases widely represented in our populations (e.g. mental illness and asthma), redefining the term "genetic disease". Officially starting in 1990, the Human Genome Project was a $3-billion, 15-year program to find the estimated 80,000 human genes and determine the sequence of the 3 billion DNA building blocks that underlie all of human biology and its diversity. The resulting boom in genetic information and technologies, not only from humans, but from many other organisms, means that we now have new tools to understand and treat normal and disease states. This information is bei...

The intersection of behavioral genetics and political science: introduction to the special issue.

Science.gov (United States)

Hatemi, Peter K

2012-02-01

The collection of papers in this special edition of Twin Research and Human Genetics represents a major land-mark at the intersection of behavioral genetics and political science. This issue is the fruit of 20 political scientists attending the Behavioral Genetics Association Methods Workshop in Boulder and a hands-on training practicum at the Virginia Institute for Psychiatric and Behavioral Genetics, and includes results from the first wave of political science twin surveys.

HARVESTING EMSP RESEARCH RESULTS FOR WASTE CLEANUP

International Nuclear Information System (INIS)

Guillen, Donna Post; Nielson, R. Bruce; Phillips, Ann Marie; Lebow, Scott

2003-01-01

The extent of environmental contamination created by the nuclear weapons legacy combined with expensive, ineffective waste cleanup strategies at many U.S. Department of Energy (DOE) sites prompted Congress to pass the FY96 Energy and Water Development Appropriations Act, which directed the DOE to: ''provide sufficient attention and resources to longer-term basic science research, which needs to be done to ultimately reduce cleanup costs'', ''develop a program that takes advantage of laboratory and university expertise, and'' ''seek new and innovative cleanup methods to replace current conventional approaches which are often costly and ineffective.'' In response, the DOE initiated the Environmental Management Science Program (EMSP)-a targeted, long-term research program intended to produce solutions to DOE's most pressing environmental problems. EMSP funds basic research to lower cleanup cost and reduce risk to workers, the public, and the environment; direct the nation's scientific infrastructure towards cleanup of contaminated waste sites; and bridge the gap between fundamental research and technology development activities. EMSP research projects are competitively awarded based on the project's scientific, merit coupled with relevance to addressing DOE site needs. This paper describes selected EMSP research projects with long, mid, and short-term deployment potential and discusses the impacts, focus, and results of the research. Results of EMSP research are intended to accelerate cleanup schedules, reduce cost or risk for current baselines, provide alternatives for contingency planning, or provide solutions to problems where no solutions exist

Comparative results of RAPD and ISSR markers for genetic diversity ...

African Journals Online (AJOL)

PRECIOUS

the mean level of genetic similarity with populations of M. baccifera by using RAPD .... The statistical data for 9 RAPD and 17 ISSR primers used for analyzing 12 accessions of M. .... (Numerical Taxonomy and Multivariate Analysis System, Bio-.

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.

Molecular genetics made simple

Science.gov (United States)

Kassem, Heba Sh.; Girolami, Francesca; Sanoudou, Despina

2012-01-01

Abstract 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. PMID:25610837

Genetic factors in exercise adoption, adherence and obesity.

Science.gov (United States)

Herring, M P; Sailors, M H; Bray, M S

2014-01-01

Physical activity and exercise play critical roles in energy balance. While many interventions targeted at increasing physical activity have demonstrated efficacy in promoting weight loss or maintenance in the short term, long term adherence to such programmes is not frequently observed. Numerous factors have been examined for their ability to predict and/or influence physical activity and exercise adherence. Although physical activity has been demonstrated to have a strong genetic component in both animals and humans, few studies have examined the association between genetic variation and exercise adherence. In this review, we provide a detailed overview of the non-genetic and genetic predictors of physical activity and adherence to exercise. In addition, we report the results of analysis of 26 single nucleotide polymorphisms in six candidate genes examined for association to exercise adherence, duration, intensity and total exercise dose in young adults from the Training Interventions and Genetics of Exercise Response (TIGER) Study. Based on both animal and human research, neural signalling and pleasure/reward systems in the brain may drive in large part the propensity to be physically active and to adhere to an exercise programme. Adherence/compliance research in other fields may inform future investigation of the genetics of exercise adherence. © 2013 The Authors. obesity reviews © 2013 International Association for the Study of Obesity.

A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report.

Science.gov (United States)

Resta, Robert; Biesecker, Barbara Bowles; Bennett, Robin L; Blum, Sandra; Hahn, Susan Estabrooks; Strecker, Michelle N; Williams, Janet L

2006-04-01

The Genetic Counseling Definition Task Force of the National Society of Genetic Counselors (NSGC) developed the following definition of genetic counseling that was approved by the NSGC Board of Directors: Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following: Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence. Education about inheritance, testing, management, prevention, resources and research. Counseling to promote informed choices and adaptation to the risk or condition. The definition was approved after a peer review process with input from the NSGC membership, genetic professional organizations, the NSGC legal counsel, and leaders of several national genetic advocacy groups.

A Comparison of Telephone Genetic Counseling and In-Person Genetic Counseling from the Genetic Counselor's Perspective.

Science.gov (United States)

Burgess, Kelly R; Carmany, Erin P; Trepanier, Angela M

2016-02-01

Growing demand for and limited geographic access to genetic counseling services is increasing the need for alternative service delivery models (SDM) like telephone genetic counseling (TGC). Little research has been done on genetic counselors' perspectives of the practice of TGC. We created an anonymous online survey to assess whether telephone genetic counselors believed the tasks identified in the ABGC (American Board of Genetic Counseling) Practice Analysis were performed similarly or differently in TGC compared to in person genetic counseling (IPGC). If there were differences noted, we sought to determine the nature of the differences and if additional training might be needed to address them. Eighty eight genetic counselors with experience in TGC completed some or all of the survey. Respondents identified differences in 13 (14.8%) of the 88 tasks studied. The tasks identified as most different in TGC were: "establishing rapport through verbal and nonverbal interactions" (60.2%; 50/83 respondents identified the task as different), "recognizing factors affecting the counseling interaction" (47.8%; 32/67), "assessing client/family emotions, support, etc." (40.1%; 27/66) and "educating clients about basic genetic concepts" (35.6%; 26/73). A slight majority (53.8%; 35/65) felt additional training was needed to communicate information without visual aids and more effectively perform psychosocial assessments. In summary, although a majority of genetic counseling tasks are performed similarly between TGC and IPGC, TGC counselors recognize that specific training in the TGC model may be needed to address the key differences.

Routes for breaching and protecting genetic privacy.

Science.gov (United States)

Erlich, Yaniv; Narayanan, Arvind

2014-06-01

We are entering an era of ubiquitous genetic information for research, clinical care and personal curiosity. Sharing these data sets is vital for progress in biomedical research. However, a growing concern is the ability to protect the genetic privacy of the data originators. Here, we present an overview of genetic privacy breaching strategies. We outline the principles of each technique, indicate the underlying assumptions, and assess their technological complexity and maturation. We then review potential mitigation methods for privacy-preserving dissemination of sensitive data and highlight different cases that are relevant to genetic applications.

"Action": Publishing Research Results in Film

Directory of Open Access Journals (Sweden)

Susan Thieme

2012-01-01

Full Text Available Researchers commonly disseminate their research findings in academic papers or books that have a selected and limited target audience. A potential method for disseminating the information other than the traditional academic is through film, but this means tailoring the material to this medium and in many cases collaborating with people who have the necessary skills. The aim of this article is to reflect on the experience of making a film from the researcher's perspective. I will in particular shed light on how the filmmaking team worked together and provide examples of the preceding research, as well as the shooting and editing of the film material. The long period of research leading up to the film was a major factor in its success. In addition, all of the people involved have to be willing to share their experiences, recognize each other's expertise and be able to compromise. The film was much more than just an extension of the ongoing multi-site qualitative research. The shooting not only provided new insights into people's lives but also forced me to think much harder about my research and "the fieldwork." The additional costs and efforts related to the film can be justified by a transdisciplinary understanding of research that requires the results to be disseminated beyond academic circles, attract attention from policymakers and activists, and also allow the subjects of the research (who generally do not read English academic articles to become an active audience. URN: http://nbn-resolving.de/urn:nbn:de:0114-fqs1201316

Rice diversity panels available through the genetic stocks oryza collection

Science.gov (United States)

The Genetic Stocks Oryza (GSOR) Collection was established in 2004 at the USDA-ARS, Dale Bumpers National Rice Research Center (DBNRRC) located in Stuttgart, AR. The mission of GSOR is to provide unique genetic resources to the rice research community for genetic and genomics related research. GSOR ...

DO ACCOUNTING PRACTITIONERS USE ACCOUNTING RESEARCH RESULTS?

OpenAIRE

ALINA BEATTRICE VLADU

2015-01-01

This paper reports the results of a survey designed to explore if accounting practitioners are using as a reference point in their daily activities the opinions of academia. Since accounting research comprises various trends of research the earnings management research field is used as illustrative case. Among our respondents were accounting professional, members of professional bodies as the Chamber of Financial Auditors or Romania and also Body of Expert and Licensed Accountants...

Research on non-uniform strain profile reconstruction along fiber Bragg grating via genetic programming algorithm and interrelated experimental verification

Science.gov (United States)

Zheng, Shijie; Zhang, Nan; Xia, Yanjun; Wang, Hongtao

2014-03-01

A new heuristic strategy for the non-uniform strain profile reconstruction along Fiber Bragg Gratings is proposed in this paper, which is based on the modified transfer matrix and Genetic Programming(GP) algorithm. The present method uses Genetic Programming to determine the applied strain field as a function of position along the fiber length. The structures that undergo adaptation in genetic programming are hierarchical structures which are different from that of conventional genetic algorithm operating on strings. GP regress the strain profile function which matches the 'measured' spectrum best and makes space resolution of strain reconstruction arbitrarily high, or even infinite. This paper also presents an experimental verification of the reconstruction of non-homogeneous strain fields using GP. The results are compared with numerical calculations of finite element method. Both the simulation examples and experimental results demonstrate that Genetic Programming can effectively reconstruct continuous profile expression along the whole FBG, and greatly improves its computational efficiency and accuracy.

Routes for breaching and protecting genetic privacy

OpenAIRE

Erlich, Yaniv; Narayanan, Arvind

2013-01-01

We are entering an era of ubiquitous genetic information for research, clinical care and personal curiosity. Sharing these datasets is vital for progress in biomedical research. However, one growing concern is the ability to protect the genetic privacy of the data originators. Here, we present an overview of genetic privacy breaching strategies. We outline the principles of each technique, point to the underlying assumptions, and assess its technological complexity and maturati...

Assessing the evidence for shared genetic risks across psychiatric disorders and traits.

Science.gov (United States)

Martin, Joanna; Taylor, Mark J; Lichtenstein, Paul

2017-12-04

Genetic influences play a significant role in risk for psychiatric disorders, prompting numerous endeavors to further understand their underlying genetic architecture. In this paper, we summarize and review evidence from traditional twin studies and more recent genome-wide molecular genetic analyses regarding two important issues that have proven particularly informative for psychiatric genetic research. First, emerging results are beginning to suggest that genetic risk factors for some (but not all) clinically diagnosed psychiatric disorders or extreme manifestations of psychiatric traits in the population share genetic risks with quantitative variation in milder traits of the same disorder throughout the general population. Second, there is now evidence for substantial sharing of genetic risks across different psychiatric disorders. This extends to the level of characteristic traits throughout the population, with which some clinical disorders also share genetic risks. In this review, we summarize and evaluate the evidence for these two issues, for a range of psychiatric disorders. We then critically appraise putative interpretations regarding the potential meaning of genetic correlation across psychiatric phenotypes. We highlight several new methods and studies which are already using these insights into the genetic architecture of psychiatric disorders to gain additional understanding regarding the underlying biology of these disorders. We conclude by outlining opportunities for future research in this area.

HARVESTING EMSP RESEARCH RESULTS FOR WASTE CLEANUP

Energy Technology Data Exchange (ETDEWEB)

Guillen, Donna Post; Nielson, R. Bruce; Phillips, Ann Marie; Lebow, Scott

2003-02-27

The extent of environmental contamination created by the nuclear weapons legacy combined with expensive, ineffective waste cleanup strategies at many U.S. Department of Energy (DOE) sites prompted Congress to pass the FY96 Energy and Water Development Appropriations Act, which directed the DOE to: ''provide sufficient attention and resources to longer-term basic science research, which needs to be done to ultimately reduce cleanup costs'', ''develop a program that takes advantage of laboratory and university expertise, and'' ''seek new and innovative cleanup methods to replace current conventional approaches which are often costly and ineffective.'' In response, the DOE initiated the Environmental Management Science Program (EMSP)-a targeted, long-term research program intended to produce solutions to DOE's most pressing environmental problems. EMSP funds basic research to lower cleanup cost and reduce risk to workers, the public, and the environment; direct the nation's scientific infrastructure towards cleanup of contaminated waste sites; and bridge the gap between fundamental research and technology development activities. EMSP research projects are competitively awarded based on the project's scientific, merit coupled with relevance to addressing DOE site needs. This paper describes selected EMSP research projects with long, mid, and short-term deployment potential and discusses the impacts, focus, and results of the research. Results of EMSP research are intended to accelerate cleanup schedules, reduce cost or risk for current baselines, provide alternatives for contingency planning, or provide solutions to problems where no solutions exist.

Human fertility, molecular genetics, and natural selection in modern societies.

Directory of Open Access Journals (Sweden)

Felix C Tropf

Full Text Available Research on genetic influences on human fertility outcomes such as number of children ever born (NEB or the age at first childbirth (AFB has been solely based on twin and family-designs that suffer from problematic assumptions and practical limitations. The current study exploits recent advances in the field of molecular genetics by applying the genomic-relationship-matrix based restricted maximum likelihood (GREML methods to quantify for the first time the extent to which common genetic variants influence the NEB and the AFB of women. Using data from the UK and the Netherlands (N = 6,758, results show significant additive genetic effects on both traits explaining 10% (SE = 5 of the variance in the NEB and 15% (SE = 4 in the AFB. We further find a significant negative genetic correlation between AFB and NEB in the pooled sample of -0.62 (SE = 0.27, p-value = 0.02. This finding implies that individuals with genetic predispositions for an earlier AFB had a reproductive advantage and that natural selection operated not only in historical, but also in contemporary populations. The observed postponement in the AFB across the past century in Europe contrasts with these findings, suggesting an evolutionary override by environmental effects and underscoring that evolutionary predictions in modern human societies are not straight forward. It emphasizes the necessity for an integrative research design from the fields of genetics and social sciences in order to understand and predict fertility outcomes. Finally, our results suggest that we may be able to find genetic variants associated with human fertility when conducting GWAS-meta analyses with sufficient sample size.

Considering genetic characteristics in German Holstein breeding programs.

Science.gov (United States)

Segelke, D; Täubert, H; Reinhardt, F; Thaller, G

2016-01-01

Recently, several research groups have demonstrated that several haplotypes may cause embryonic loss in the homozygous state. Up to now, carriers of genetic disorders were often excluded from mating, resulting in a decrease of genetic gain and a reduced number of sires available for the breeding program. Ongoing research is very likely to identify additional genetic defects causing embryonic loss and calf mortality by genotyping a large proportion of the female cattle population and sequencing key ancestors. Hence, a clear demand is present to develop a method combining selection against recessive defects (e.g., Holstein haplotypes HH1-HH5) with selection for economically beneficial traits (e.g., polled) for mating decisions. Our proposed method is a genetic index that accounts for the allele frequencies in the population and the economic value of the genetic characteristic without excluding carriers from breeding schemes. Fertility phenotypes from routine genetic evaluations were used to determine the economic value per embryo lost. Previous research has shown that embryo loss caused by HH1 and HH2 occurs later than the loss for HH3, HH4, and HH5. Therefore, an economic value of € 97 was used against HH1 and HH2 and € 70 against HH3, HH4, and HH5. For polled, € 7 per polled calf was considered. Minor allele frequencies of the defects ranged between 0.8 and 3.3%. The polled allele has a frequency of 4.1% in the German Holstein population. A genomic breeding program was simulated to study the effect of changing the selection criteria from assortative mating based on breeding values to selecting the females using the genetic index. Selection for a genetic index on the female path is a useful method to control the allele frequencies by reducing undesirable alleles and simultaneously increasing economical beneficial characteristics maintaining most of the genetic gain in production and functional traits. Additionally, we applied the genetic index to real data and

The Role of Research in School Project Work and Teacher Development: Results from Project "Schools Ethics Technology."

Science.gov (United States)

Wellensiek, Anneliese; Lembens, Anja; Schallies, Michael

"Schools Ethics Technology" was a German interdisciplinary research project with the Centre of Ethics in the Sciences at the University of Tubingen. The project highlighted the new topic of biotechnology and genetic engineering, involving the formation of active project groups within schools. This study examined teaching activities…

Evaluating human genetic diversity

National Research Council Canada - National Science Library

... into human evolution and origins and serving as a springboard for important medical research. It also addresses issues of confidentiality and individual privacy for participants in genetic diversity research studies.

The significant impact of education, poverty, and race on Internet-based research participant engagement.

Science.gov (United States)

Hartz, Sarah M; Quan, Tiffany; Ibiebele, Abiye; Fisher, Sherri L; Olfson, Emily; Salyer, Patricia; Bierut, Laura J

2017-02-01

Internet-based technologies are increasingly being used for research studies. However, it is not known whether Internet-based approaches will effectively engage participants from diverse racial and socioeconomic backgrounds. A total of 967 participants were recruited and offered genetic ancestry results. We evaluated viewing Internet-based genetic ancestry results among participants who expressed high interest in obtaining the results. Of the participants, 64% stated that they were very or extremely interested in their genetic ancestry results. Among interested participants, individuals with a high school diploma (n = 473) viewed their results 19% of the time relative to 4% of the 145 participants without a diploma (P Internet-based research was low despite high reported interest. This suggests that explicit strategies should be developed to increase diversity in Internet-based research.Genet Med 19 2, 240-243.

Functional genetic research for radiation and drug resistant adenocarcinoma and its application

Energy Technology Data Exchange (ETDEWEB)

Kim, In Gyu; Kim, Kug Chan; Jung, Il Lae; Chul, Shin Byung; Kook, Park Hyo; Lee, Hee Min

2012-01-15

The work scope of 'Functional genetic research for radiation and drug resistant adenocarcinoma and its application' had contained the research about effect of transgelin(SM22a), neurotensin, metallothionein-1G transgelin-2 genes on the cell death triggered ionizing radiation, cisplatin, MMS, luteolin and H{sub 2}O{sub 2}(toxic agents), which are highly expressed in radiation-induced mutant cells. In this study, to elucidate the role of these proteins in the ionizing radiation (toxic chemicals)-induced cell death, we utilized sensed (or antisense, small interference RNA) cells, which overexpress (or down-regulate) RNAs associated with these proteins biosynthesis, and investigated the effects of these genes on the cytotoxicity caused by ionizing radiation, H{sub 2}O{sub 2} and toxic chemicals. We also investigated the functions of downstream target genes of transgelin such as IGF-1Rβ/PI3K/AKT pathway and transgelin/metallothioneine in A-549 and HepG2 cells because such target genes are able to potentiate the cell-killing or cell protecting effects against radiation.

Functional genetic research for radiation and drug resistant adenocarcinoma and its application

International Nuclear Information System (INIS)

Kim, In Gyu; Kim, Kug Chan; Jung, Il Lae; Chul, Shin Byung; Kook, Park Hyo; Lee, Hee Min

2012-01-01

The work scope of 'Functional genetic research for radiation and drug resistant adenocarcinoma and its application' had contained the research about effect of transgelin(SM22a), neurotensin, metallothionein-1G transgelin-2 genes on the cell death triggered ionizing radiation, cisplatin, MMS, luteolin and H 2 O 2 (toxic agents), which are highly expressed in radiation-induced mutant cells. In this study, to elucidate the role of these proteins in the ionizing radiation (toxic chemicals)-induced cell death, we utilized sensed (or antisense, small interference RNA) cells, which overexpress (or down-regulate) RNAs associated with these proteins biosynthesis, and investigated the effects of these genes on the cytotoxicity caused by ionizing radiation, H 2 O 2 and toxic chemicals. We also investigated the functions of downstream target genes of transgelin such as IGF-1Rβ/PI3K/AKT pathway and transgelin/metallothioneine in A-549 and HepG2 cells because such target genes are able to potentiate the cell-killing or cell protecting effects against radiation

Asthma pharmacogenetics and the development of genetic profiles for personalized medicine

Directory of Open Access Journals (Sweden)

Ortega VE

2015-01-01

Full Text Available Victor E Ortega, Deborah A Meyers, Eugene R Bleecker Center for Genomics and Personalized Medicine Research, Pulmonary Medicine, Wake Forest School of Medicine, Winston-Salem, NC, USA Abstract: Human genetics research will be critical to the development of genetic profiles for personalized or precision medicine in asthma. Genetic profiles will consist of gene variants that predict individual disease susceptibility and risk for progression, predict which pharmacologic therapies will result in a maximal therapeutic benefit, and predict whether a therapy will result in an adverse response and should be avoided in a given individual. Pharmacogenetic studies of the glucocorticoid, leukotriene, and β2-adrenergic receptor pathways have focused on candidate genes within these pathways and, in addition to a small number of genome-wide association studies, have identified genetic loci associated with therapeutic responsiveness. This review summarizes these pharmacogenetic discoveries and the future of genetic profiles for personalized medicine in asthma. The benefit of a personalized, tailored approach to health care delivery is needed in the development of expensive biologic drugs directed at a specific biologic pathway. Prior pharmacogenetic discoveries, in combination with additional variants identified in future studies, will form the basis for future genetic profiles for personalized tailored approaches to maximize therapeutic benefit for an individual asthmatic while minimizing the risk for adverse events. Keywords: asthma, pharmacogenetics, response heterogeneity, single nucleotide polymorphism, genome-wide association study

Genetic Discrimination

Science.gov (United States)

... Care Genomic Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for ...

Proceedings of the Seminar on Research Result of Research Reactor Technology Centre 2003

International Nuclear Information System (INIS)

Endiah Puji Hastuti; Setiyanto; Taswanda Taryo; Mohammad Dhandhang Purwadi; Pinem, Surian; Tarigan, Alim; Hasibuan, Djaruddin; Kadarusmanto; Amir Hamzah

2004-05-01

The Proceeding of the Seminar on Research Result of Research Reactor Technology Centre 2003 held by P2TRR has been reported researcher are expected to use the reports as references to research activities in Science and Technology, especially in field of Nuclear Reactor. There are 27 papers which have separated index. (PPIN)

Genotator: A disease-agnostic tool for genetic annotation of disease

Directory of Open Access Journals (Sweden)

Jung Jae-Yoon

2010-10-01

Full Text Available Abstract Background Disease-specific genetic information has been increasing at rapid rates as a consequence of recent improvements and massive cost reductions in sequencing technologies. Numerous systems designed to capture and organize this mounting sea of genetic data have emerged, but these resources differ dramatically in their disease coverage and genetic depth. With few exceptions, researchers must manually search a variety of sites to assemble a complete set of genetic evidence for a particular disease of interest, a process that is both time-consuming and error-prone. Methods We designed a real-time aggregation tool that provides both comprehensive coverage and reliable gene-to-disease rankings for any disease. Our tool, called Genotator, automatically integrates data from 11 externally accessible clinical genetics resources and uses these data in a straightforward formula to rank genes in order of disease relevance. We tested the accuracy of coverage of Genotator in three separate diseases for which there exist specialty curated databases, Autism Spectrum Disorder, Parkinson's Disease, and Alzheimer Disease. Genotator is freely available at http://genotator.hms.harvard.edu. Results Genotator demonstrated that most of the 11 selected databases contain unique information about the genetic composition of disease, with 2514 genes found in only one of the 11 databases. These findings confirm that the integration of these databases provides a more complete picture than would be possible from any one database alone. Genotator successfully identified at least 75% of the top ranked genes for all three of our use cases, including a 90% concordance with the top 40 ranked candidates for Alzheimer Disease. Conclusions As a meta-query engine, Genotator provides high coverage of both historical genetic research as well as recent advances in the genetic understanding of specific diseases. As such, Genotator provides a real-time aggregation of ranked

An analysis of food irradiation : genetic effects

International Nuclear Information System (INIS)

MacPhee, D.; Hall, W.

1988-01-01

A series of studies undertaken at the National Institute of Nutrition (NIN) in India in the 1970s reported the occurrence of polyploidy in bone-marrow or peripheral lymphocytes in a number of species, including children, fed on freshly irradiated wheat. Opponents of food irradiation use these studies as evidence that genetic damage is caused by the consumption of irradiated food. This review of those NIN studies and of the attempts to replicate them and of two other relevant studies concludes that the claim that consumption of irradiated food causes genetic damage has not been substantiated. Other researchers have been unable to replicate the NIN studies. Polyploidy appears to be a poor indicator of genetic damage and the NIN results are biologically implausible

Cross-Disorder Genetic Analysis of Tic Disorders, Obsessive?Compulsive, and Hoarding Symptoms

OpenAIRE

Zilh?o, Nuno R.; Smit, Dirk J.; Boomsma, Dorret I.; Cath, Danielle C.

2016-01-01

Hoarding, obsessive–compulsive disorder (OCD), and Tourette’s disorder (TD) are psychiatric disorders that share symptom overlap, which might partly be the result of shared genetic variation. Population-based twin studies have found significant genetic correlations between hoarding and OCD symptoms, with genetic correlations varying between 0.1 and 0.45. For tic disorders, studies examining these correlations are lacking. Other lines of research, including clinical samples and GWAS or CNV dat...

Genetic studies of the Roma (Gypsies: a review

Directory of Open Access Journals (Sweden)

Gresham David

2001-04-01

Full Text Available Abstract Background Data provided by the social sciences as well as genetic research suggest that the 8-10 million Roma (Gypsies who live in Europe today are best described as a conglomerate of genetically isolated founder populations. The relationship between the traditional social structure observed by the Roma, where the Group is the primary unit, and the boundaries, demographic history and biological relatedness of the diverse founder populations appears complex and has not been addressed by population genetic studies. Results Recent medical genetic research has identified a number of novel, or previously known but rare conditions, caused by private founder mutations. A summary of the findings, provided in this review, should assist diagnosis and counselling in affected families, and promote future collaborative research. The available incomplete epidemiological data suggest a non-random distribution of disease-causing mutations among Romani groups. Conclusion Although far from systematic, the published information indicates that medical genetics has an important role to play in improving the health of this underprivileged and forgotten people of Europe. Reported carrier rates for some Mendelian disorders are in the range of 5 -15%, sufficient to justify newborn screening and early treatment, or community-based education and carrier testing programs for disorders where no therapy is currently available. To be most productive, future studies of the epidemiology of single gene disorders should take social organisation and cultural anthropology into consideration, thus allowing the targeting of public health programs and contributing to the understanding of population structure and demographic history of the Roma.

Selfish genetic elements, genetic conflict, and evolutionary innovation.

Science.gov (United States)

Werren, John H

2011-06-28

Genomes are vulnerable to selfish genetic elements (SGEs), which enhance their own transmission relative to the rest of an individual's genome but are neutral or harmful to the individual as a whole. As a result, genetic conflict occurs between SGEs and other genetic elements in the genome. There is growing evidence that SGEs, and the resulting genetic conflict, are an important motor for evolutionary change and innovation. In this review, the kinds of SGEs and their evolutionary consequences are described, including how these elements shape basic biological features, such as genome structure and gene regulation, evolution of new genes, origin of new species, and mechanisms of sex determination and development. The dynamics of SGEs are also considered, including possible "evolutionary functions" of SGEs.

MycoKey round table discussions of future directions in research on chemical detection methods, genetics and biodiversity of mycotoxins

Science.gov (United States)

MycoKey, an EU-funded Horizon 2020 project, includes a series of “Roundtable Discussions” to gather information on trending research areas in the field of mycotoxicology. This presentation includes summaries of the Roundtable Discussions on the role of Genetics and Biodiversity in mycotoxin product...

Study on reciprocal relation of pore water pressure with genetic algorithm and neural network model (Contract research)

International Nuclear Information System (INIS)

Seno, Shoji; Nakajima, Makoto; Toida, Masaru; Kunimaru, Takanori; Watanabe, Kunio; Sohail Ahmed Rai

2009-12-01

Horonobe Underground Research Center has carried out the Horonobe Underground Research Laboratory Project which is a comprehensive research project to investigate the deep geological environment within sedimentary rock. In this project, long-term observation of the pore water pressure has been conducted with monitoring systems introduced in 9 of 11 boreholes drilled in phase I (surface-based investigation). Since August 2003 the monitoring systems have been settled successively in the boreholes, and a certain amount of the pore water pressure data has been already accumulated. Using 6 borehole data (HDB-1,3,6,7,8,9) among this, this report summarized the result of a study on reciprocal relation of pore water pressure to investigate the hydrogeological environment of this site. At first, to exclude the influences of working of nature such as tide and atmospheric pressure from the source data, an analysis with Bayesian model was progressed. As the result of the estimation of these influences calculated by BAYTAP-G (Bayesian Tidal Analysis Program Grouping Model), it was found that the influence of the atmospheric pressure was comparatively large and that of tide was comparatively small. Secondly, an analysis on the reciprocal relation of the pore water pressure was carried out to investigate the relation between the different depth points of the same borehole and the relation between different boreholes. As the result of the calculations with genetic algorithm (GA) and neural network models (BPANN, GAANN), it was found that estimation by GA models was better than other models in the case where analyzing data included radical changes. And the result also showed that in regions lower than GL.-400m of HDB-3,6,7,8, the pore water pressures change in the same manner. These results indicate the effectiveness of this analysis method. (author)

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

Genetic testing for hearing impairment.