WorldWideScience

Sample records for project geha genetics

  1. Design, recruitment, logistics, and data management of the GEHA (Genetics of Healthy Ageing) project

    DEFF Research Database (Denmark)

    Skytthe, A; Valensin, S; Jeune, B

    2011-01-01

    In 2004, the integrated European project GEHA (Genetics of Healthy Ageing) was initiated with the aim of identifying genes involved in healthy ageing and longevity. The first step in the project was the recruitment of more than 2500 pairs of siblings aged 90years or more together with one younger...

  2. Genetics of healthy aging in Europe: the EU-integrated project GEHA (GEnetics of Healthy Aging)

    DEFF Research Database (Denmark)

    Franceschi, Claudio; Bezrukov, Vladyslav; Blanché, Hélène

    2007-01-01

    The aim of the 5-year European Union (EU)-Integrated Project GEnetics of Healthy Aging (GEHA), constituted by 25 partners (24 from Europe plus the Beijing Genomics Institute from China), is to identify genes involved in healthy aging and longevity, which allow individuals to survive to advanced old......DNA). The genetic analysis will be performed by 9 high-throughput platforms, within the framework of centralized databases for phenotypic, genetic, and mtDNA data. Additional advanced approaches (bioinformatics, advanced statistics, mathematical modeling, functional genomics and proteomics, molecular biology...... age in good cognitive and physical function and in the absence of major age-related diseases. To achieve this aim a coherent, tightly integrated program of research that unites demographers, geriatricians, geneticists, genetic epidemiologists, molecular biologists, bioinfomaticians, and statisticians...

  3. Health status and 6 years survival of 552 90+ Italian sib-ships recruited within the EU Project GEHA (GEnetics of Healthy Ageing)

    DEFF Research Database (Denmark)

    Cevenini, E; Cotichini, R; Stazi, M A

    2014-01-01

    In a scenario of increasing life expectancy worldwide, it is mandatory to identify the characteristics of a healthy aging phenotype, including survival predictors, and to disentangle those related to environment/lifestyle versus those related to familiarity/genetics. To this aim we comprehensively...... characterised a cohort of 1,160 Italian subjects of 90 years and over (90+, mean age 93 years; age range 90-106 years) followed for 6 years survival, belonging to 552 sib-ships (familiar longevity) recruited (2005-2008) within the EU-funded GEHA project in three Italian geographic areas (Northern, Central...... emerged, such as functional and physical status being more important in Southern than in Central and Northern Italy. In conclusion, we identified modifiable survival predictors related to specific domains, whose role and importance vary according to the geographic area considered and which can help...

  4. Human genetics: international projects and personalized medicine.

    Science.gov (United States)

    Apellaniz-Ruiz, Maria; Gallego, Cristina; Ruiz-Pinto, Sara; Carracedo, Angel; Rodríguez-Antona, Cristina

    2016-03-01

    In this article, we present the progress driven by the recent technological advances and new revolutionary massive sequencing technologies in the field of human genetics. We discuss this knowledge in relation with drug response prediction, from the germline genetic variation compiled in the 1000 Genomes Project or in the Genotype-Tissue Expression project, to the phenome-genome archives, the international cancer projects, such as The Cancer Genome Atlas or the International Cancer Genome Consortium, and the epigenetic variation and its influence in gene expression, including the regulation of drug metabolism. This review is based on the lectures presented by the speakers of the Symposium "Human Genetics: International Projects & New Technologies" from the VII Conference of the Spanish Pharmacogenetics and Pharmacogenomics Society, held on the 20th and 21st of April 2015.

  5. The co-occurrence of mtDNA mutations on different oxidative phosphorylation subunits, not detected by haplogroup analysis, affects human longevity and is population specific

    DEFF Research Database (Denmark)

    Raule, Nicola; Sevini, Federica; Li, Shengting

    2014-01-01

    To re-examine the correlation between mtDNA variability and longevity, we examined mtDNAs from samples obtained from over 2200 ultranonagenarians (and an equal number of controls) collected within the framework of the GEHA EU project. The samples were categorized by high-resolution classification...

  6. Increasing Prediction the Original Final Year Project of Student Using Genetic Algorithm

    Science.gov (United States)

    Saragih, Rijois Iboy Erwin; Turnip, Mardi; Sitanggang, Delima; Aritonang, Mendarissan; Harianja, Eva

    2018-04-01

    Final year project is very important forgraduation study of a student. Unfortunately, many students are not seriouslydidtheir final projects. Many of studentsask for someone to do it for them. In this paper, an application of genetic algorithms to predict the original final year project of a studentis proposed. In the simulation, the data of the final project for the last 5 years is collected. The genetic algorithm has several operators namely population, selection, crossover, and mutation. The result suggest that genetic algorithm can do better prediction than other comparable model. Experimental results of predicting showed that 70% was more accurate than the previous researched.

  7. Competences, education and support for new roles in cancer genetics services: outcomes from the cancer genetics pilot projects.

    Science.gov (United States)

    Bennett, Catherine; Burton, Hilary; Farndon, Peter

    2007-01-01

    In 2004 the Department of Health in collaboration with Macmillan Cancer Support set up service development projects to pilot the integration of genetics in mainstream medicine in the area of cancer genetics.In developing these services, new roles and responsibilities were devised that required supporting programmes of education and training. The NHS National Genetics Education and Development Centre has worked with the projects to draw together their experience in these aspects. New roles include the Cancer Family Nurse Specialist, in which a nurse working in a cancer setting was trained to identify and manage genetic or family history concerns, and the Genetic Risk Assessment Practitioner--a small team of practitioners working within a secondary care setting to deliver a standardised risk assessment pathway. Existing roles were also adapted for a different setting, in particular the use of genetic counsellors working in a community ethnic minority setting. These practitioners undertook a range of clinical activities that can be mapped directly to the 'UK National Workforce Competences for Genetics in Clinical Practice for Non-genetics Healthcare Staff' framework developed by Skills for Health and the NHS National Genetics Education and Development Centre (2007; draft competence framework). The main differences between the various roles were in the ordering of genetic tests and the provision of advice on invasive preventive options such as mastectomy. Those involved in service development also needed to develop competences in project management, business skills, audit and evaluation, working with users, general management (personnel, multi-agency work and marketing), educational supervision, IT, public and professional outreach, and research. Important resources to support the development of new roles and competences included pathways and guidelines, a formal statement of competences, a recognised syllabus, appropriate and timely courses, the availability of a

  8. Scientific projection paper for genetics

    International Nuclear Information System (INIS)

    Grahn, D.

    1980-01-01

    This Projection Paper is in two parts. The first is a general discussion of current knowledge and the present basis of radiation protection policy, the rather dismal prospects in the foreseeable future of getting realistic estimates of the human impact of radiation-induced mutation, and some general remarks about radiation standards and research strategy. The second part deals with specific research projects that might increase basic knowledge and narrow the gap between what is needed and what is known. We should emphasize at the outset that, of all environmental hazards, radiation is one whose genetic effects are best understood. There is good information on the dose-response curve, on the effects of dose rate and fractionation, and on the differential sensitivity of different ages, sexes and cell stages. This includes a great deal of knowledge of one organism closely related to man, the mouse. This information has been the basis for risk assessment and for safety standards that are widely accepted as solidly based

  9. Combinatorial Optimization in Project Selection Using Genetic Algorithm

    Science.gov (United States)

    Dewi, Sari; Sawaluddin

    2018-01-01

    This paper discusses the problem of project selection in the presence of two objective functions that maximize profit and minimize cost and the existence of some limitations is limited resources availability and time available so that there is need allocation of resources in each project. These resources are human resources, machine resources, raw material resources. This is treated as a consideration to not exceed the budget that has been determined. So that can be formulated mathematics for objective function (multi-objective) with boundaries that fulfilled. To assist the project selection process, a multi-objective combinatorial optimization approach is used to obtain an optimal solution for the selection of the right project. It then described a multi-objective method of genetic algorithm as one method of multi-objective combinatorial optimization approach to simplify the project selection process in a large scope.

  10. Multiobjective genetic algorithm approaches to project scheduling under risk

    OpenAIRE

    Kılıç, Murat; Kilic, Murat

    2003-01-01

    In this thesis, project scheduling under risk is chosen as the topic of research. Project scheduling under risk is defined as a biobjective decision problem and is formulated as a 0-1 integer mathematical programming model. In this biobjective formulation, one of the objectives is taken as the expected makespan minimization and the other is taken as the expected cost minimization. As the solution approach to this biobjective formulation genetic algorithm (GA) is chosen. After carefully invest...

  11. Comparing genetic variants detected in the 1000 genomes project ...

    Indian Academy of Sciences (India)

    Single-nucleotide polymorphisms (SNPs) determined based on SNP arrays from the international HapMap consortium (HapMap) and the genetic variants detected in the 1000 genomes project (1KGP) can serve as two references for genomewide association studies (GWAS). We conducted comparative analyses to provide ...

  12. Genetic algorithm for project time-cost optimization in fuzzy environment

    Directory of Open Access Journals (Sweden)

    Khan Md. Ariful Haque

    2012-12-01

    Full Text Available Purpose: The aim of this research is to develop a more realistic approach to solve project time-cost optimization problem under uncertain conditions, with fuzzy time periods. Design/methodology/approach: Deterministic models for time-cost optimization are never efficient considering various uncertainty factors. To make such problems realistic, triangular fuzzy numbers and the concept of a-cut method in fuzzy logic theory are employed to model the problem. Because of NP-hard nature of the project scheduling problem, Genetic Algorithm (GA has been used as a searching tool. Finally, Dev-C++ 4.9.9.2 has been used to code this solver. Findings: The solution has been performed under different combinations of GA parameters and after result analysis optimum values of those parameters have been found for the best solution. Research limitations/implications: For demonstration of the application of the developed algorithm, a project on new product (Pre-paid electric meter, a project under government finance launching has been chosen as a real case. The algorithm is developed under some assumptions. Practical implications: The proposed model leads decision makers to choose the desired solution under different risk levels. Originality/value: Reports reveal that project optimization problems have never been solved under multiple uncertainty conditions. Here, the function has been optimized using Genetic Algorithm search technique, with varied level of risks and fuzzy time periods.

  13. Genetic algorithm parameters tuning for resource-constrained project scheduling problem

    Science.gov (United States)

    Tian, Xingke; Yuan, Shengrui

    2018-04-01

    Project Scheduling Problem (RCPSP) is a kind of important scheduling problem. To achieve a certain optimal goal such as the shortest duration, the smallest cost, the resource balance and so on, it is required to arrange the start and finish of all tasks under the condition of satisfying project timing constraints and resource constraints. In theory, the problem belongs to the NP-hard problem, and the model is abundant. Many combinatorial optimization problems are special cases of RCPSP, such as job shop scheduling, flow shop scheduling and so on. At present, the genetic algorithm (GA) has been used to deal with the classical RCPSP problem and achieved remarkable results. Vast scholars have also studied the improved genetic algorithm for the RCPSP problem, which makes it to solve the RCPSP problem more efficiently and accurately. However, for the selection of the main parameters of the genetic algorithm, there is no parameter optimization in these studies. Generally, we used the empirical method, but it cannot ensure to meet the optimal parameters. In this paper, the problem was carried out, which is the blind selection of parameters in the process of solving the RCPSP problem. We made sampling analysis, the establishment of proxy model and ultimately solved the optimal parameters.

  14. Multi-objective genetic optimization of linear construction projects

    Directory of Open Access Journals (Sweden)

    Fatma A. Agrama

    2012-08-01

    Full Text Available In the real world, the majority cases of optimization problems, met by engineers, are composed of several conflicting objectives. This paper presents an approach for a multi-objective optimization model for scheduling linear construction projects. Linear construction projects have many identical units wherein activities repeat from one unit to another. Highway, pipeline, and tunnels are good examples that exhibit repetitive characteristics. These projects represent a large portion of the construction industry. The present model enables construction planners to generate optimal/near-optimal construction plans that minimize project duration, total work interruptions, and total number of crews. Each of these plans identifies, from a set of feasible alternatives, optimal crew synchronization for each activity and activity interruptions at each unit. This model satisfies the following aspects: (1 it is based on the line of balance technique; (2 it considers non-serial typical activities networks with finish–start relationship and both lag or overlap time between activities is allowed; (3 it utilizes a multi-objective genetic algorithms approach; (4 it is developed as a spreadsheet template that is easy to use. Details of the model with visual charts are presented. An application example is analyzed to illustrate the use of the model and demonstrate its capabilities in optimizing the scheduling of linear construction projects.

  15. Simulated Annealing Genetic Algorithm Based Schedule Risk Management of IT Outsourcing Project

    Directory of Open Access Journals (Sweden)

    Fuqiang Lu

    2017-01-01

    Full Text Available IT outsourcing is an effective way to enhance the core competitiveness for many enterprises. But the schedule risk of IT outsourcing project may cause enormous economic loss to enterprise. In this paper, the Distributed Decision Making (DDM theory and the principal-agent theory are used to build a model for schedule risk management of IT outsourcing project. In addition, a hybrid algorithm combining simulated annealing (SA and genetic algorithm (GA is designed, namely, simulated annealing genetic algorithm (SAGA. The effect of the proposed model on the schedule risk management problem is analyzed in the simulation experiment. Meanwhile, the simulation results of the three algorithms GA, SA, and SAGA show that SAGA is the most superior one to the other two algorithms in terms of stability and convergence. Consequently, this paper provides the scientific quantitative proposal for the decision maker who needs to manage the schedule risk of IT outsourcing project.

  16. The African Genome Variation Project shapes medical genetics in Africa

    Science.gov (United States)

    Gurdasani, Deepti; Carstensen, Tommy; Tekola-Ayele, Fasil; Pagani, Luca; Tachmazidou, Ioanna; Hatzikotoulas, Konstantinos; Karthikeyan, Savita; Iles, Louise; Pollard, Martin O.; Choudhury, Ananyo; Ritchie, Graham R. S.; Xue, Yali; Asimit, Jennifer; Nsubuga, Rebecca N.; Young, Elizabeth H.; Pomilla, Cristina; Kivinen, Katja; Rockett, Kirk; Kamali, Anatoli; Doumatey, Ayo P.; Asiki, Gershim; Seeley, Janet; Sisay-Joof, Fatoumatta; Jallow, Muminatou; Tollman, Stephen; Mekonnen, Ephrem; Ekong, Rosemary; Oljira, Tamiru; Bradman, Neil; Bojang, Kalifa; Ramsay, Michele; Adeyemo, Adebowale; Bekele, Endashaw; Motala, Ayesha; Norris, Shane A.; Pirie, Fraser; Kaleebu, Pontiano; Kwiatkowski, Dominic; Tyler-Smith, Chris; Rotimi, Charles; Zeggini, Eleftheria; Sandhu, Manjinder S.

    2015-01-01

    Given the importance of Africa to studies of human origins and disease susceptibility, detailed characterization of African genetic diversity is needed. The African Genome Variation Project provides a resource with which to design, implement and interpret genomic studies in sub-Saharan Africa and worldwide. The African Genome Variation Project represents dense genotypes from 1,481 individuals and whole-genome sequences from 320 individuals across sub-Saharan Africa. Using this resource, we find novel evidence of complex, regionally distinct hunter-gatherer and Eurasian admixture across sub-Saharan Africa. We identify new loci under selection, including loci related to malaria susceptibility and hypertension. We show that modern imputation panels (sets of reference genotypes from which unobserved or missing genotypes in study sets can be inferred) can identify association signals at highly differentiated loci across populations in sub-Saharan Africa. Using whole-genome sequencing, we demonstrate further improvements in imputation accuracy, strengthening the case for large-scale sequencing efforts of diverse African haplotypes. Finally, we present an efficient genotype array design capturing common genetic variation in Africa.

  17. The African Genome Variation Project shapes medical genetics in Africa.

    Science.gov (United States)

    Gurdasani, Deepti; Carstensen, Tommy; Tekola-Ayele, Fasil; Pagani, Luca; Tachmazidou, Ioanna; Hatzikotoulas, Konstantinos; Karthikeyan, Savita; Iles, Louise; Pollard, Martin O; Choudhury, Ananyo; Ritchie, Graham R S; Xue, Yali; Asimit, Jennifer; Nsubuga, Rebecca N; Young, Elizabeth H; Pomilla, Cristina; Kivinen, Katja; Rockett, Kirk; Kamali, Anatoli; Doumatey, Ayo P; Asiki, Gershim; Seeley, Janet; Sisay-Joof, Fatoumatta; Jallow, Muminatou; Tollman, Stephen; Mekonnen, Ephrem; Ekong, Rosemary; Oljira, Tamiru; Bradman, Neil; Bojang, Kalifa; Ramsay, Michele; Adeyemo, Adebowale; Bekele, Endashaw; Motala, Ayesha; Norris, Shane A; Pirie, Fraser; Kaleebu, Pontiano; Kwiatkowski, Dominic; Tyler-Smith, Chris; Rotimi, Charles; Zeggini, Eleftheria; Sandhu, Manjinder S

    2015-01-15

    Given the importance of Africa to studies of human origins and disease susceptibility, detailed characterization of African genetic diversity is needed. The African Genome Variation Project provides a resource with which to design, implement and interpret genomic studies in sub-Saharan Africa and worldwide. The African Genome Variation Project represents dense genotypes from 1,481 individuals and whole-genome sequences from 320 individuals across sub-Saharan Africa. Using this resource, we find novel evidence of complex, regionally distinct hunter-gatherer and Eurasian admixture across sub-Saharan Africa. We identify new loci under selection, including loci related to malaria susceptibility and hypertension. We show that modern imputation panels (sets of reference genotypes from which unobserved or missing genotypes in study sets can be inferred) can identify association signals at highly differentiated loci across populations in sub-Saharan Africa. Using whole-genome sequencing, we demonstrate further improvements in imputation accuracy, strengthening the case for large-scale sequencing efforts of diverse African haplotypes. Finally, we present an efficient genotype array design capturing common genetic variation in Africa.

  18. Using Coevolution Genetic Algorithm with Pareto Principles to Solve Project Scheduling Problem under Duration and Cost Constraints

    Directory of Open Access Journals (Sweden)

    Alexandr Victorovich Budylskiy

    2014-06-01

    Full Text Available This article considers the multicriteria optimization approach using the modified genetic algorithm to solve the project-scheduling problem under duration and cost constraints. The work contains the list of choices for solving this problem. The multicriteria optimization approach is justified here. The study describes the Pareto principles, which are used in the modified genetic algorithm. We identify the mathematical model of the project-scheduling problem. We introduced the modified genetic algorithm, the ranking strategies, the elitism approaches. The article includes the example.

  19. Pre-emptive resource-constrained multimode project scheduling using genetic algorithm: A dynamic forward approach

    Directory of Open Access Journals (Sweden)

    Aidin Delgoshaei

    2016-09-01

    Full Text Available Purpose: The issue resource over-allocating is a big concern for project engineers in the process of scheduling project activities. Resource over-allocating drawback is frequently seen after scheduling of a project in practice which causes a schedule to be useless. Modifying an over-allocated schedule is very complicated and needs a lot of efforts and time. In this paper, a new and fast tracking method is proposed to schedule large scale projects which can help project engineers to schedule the project rapidly and with more confidence. Design/methodology/approach: In this article, a forward approach for maximizing net present value (NPV in multi-mode resource constrained project scheduling problem while assuming discounted positive cash flows (MRCPSP-DCF is proposed. The progress payment method is used and all resources are considered as pre-emptible. The proposed approach maximizes NPV using unscheduled resources through resource calendar in forward mode. For this purpose, a Genetic Algorithm is applied to solve. Findings: The findings show that the proposed method is an effective way to maximize NPV in MRCPSP-DCF problems while activity splitting is allowed. The proposed algorithm is very fast and can schedule experimental cases with 1000 variables and 100 resources in few seconds. The results are then compared with branch and bound method and simulated annealing algorithm and it is found the proposed genetic algorithm can provide results with better quality. Then algorithm is then applied for scheduling a hospital in practice. Originality/value: The method can be used alone or as a macro in Microsoft Office Project® Software to schedule MRCPSP-DCF problems or to modify resource over-allocated activities after scheduling a project. This can help project engineers to schedule project activities rapidly with more accuracy in practice.

  20. The African Genome Variation Project shapes medical genetics in Africa

    Science.gov (United States)

    Gurdasani, Deepti; Carstensen, Tommy; Tekola-Ayele, Fasil; Pagani, Luca; Tachmazidou, Ioanna; Hatzikotoulas, Konstantinos; Karthikeyan, Savita; Iles, Louise; Pollard, Martin O.; Choudhury, Ananyo; Ritchie, Graham R. S.; Xue, Yali; Asimit, Jennifer; Nsubuga, Rebecca N.; Young, Elizabeth H.; Pomilla, Cristina; Kivinen, Katja; Rockett, Kirk; Kamali, Anatoli; Doumatey, Ayo P.; Asiki, Gershim; Seeley, Janet; Sisay-Joof, Fatoumatta; Jallow, Muminatou; Tollman, Stephen; Mekonnen, Ephrem; Ekong, Rosemary; Oljira, Tamiru; Bradman, Neil; Bojang, Kalifa; Ramsay, Michele; Adeyemo, Adebowale; Bekele, Endashaw; Motala, Ayesha; Norris, Shane A.; Pirie, Fraser; Kaleebu, Pontiano; Kwiatkowski, Dominic; Tyler-Smith, Chris; Rotimi, Charles; Zeggini, Eleftheria; Sandhu, Manjinder S.

    2014-01-01

    Given the importance of Africa to studies of human origins and disease susceptibility, detailed characterisation of African genetic diversity is needed. The African Genome Variation Project (AGVP) provides a resource to help design, implement and interpret genomic studies in sub-Saharan Africa (SSA) and worldwide. The AGVP represents dense genotypes from 1,481 and whole genome sequences (WGS) from 320 individuals across SSA. Using this resource, we find novel evidence of complex, regionally distinct hunter-gatherer and Eurasian admixture across SSA. We identify new loci under selection, including for malaria and hypertension. We show that modern imputation panels can identify association signals at highly differentiated loci across populations in SSA. Using WGS, we show further improvement in imputation accuracy supporting efforts for large-scale sequencing of diverse African haplotypes. Finally, we present an efficient genotype array design capturing common genetic variation in Africa, showing for the first time that such designs are feasible. PMID:25470054

  1. BPA genetic monitoring - BPA Genetic Monitoring Project

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Initiated in 1989, this study monitors genetic changes associated with hatchery propagation in multiple Snake River sub-basins for Chinook salmon and steelhead. We...

  2. 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.

  3. Assessing and monitoring impacts of genetically modified plants on agro-ecosystems: the approach of AMIGA project

    Directory of Open Access Journals (Sweden)

    S. Arpaia

    2014-06-01

    Full Text Available The environmental impacts of genetically modified crops is still a controversial issue in Europe. The overall risk assessment framework has recently been reinforced by the European Food Safety Authority(EFSA and its implementation requires harmonized and efficient methodologies. The EU-funded research project AMIGA − Assessing and monitoring Impacts of Genetically modified plants on Agro-ecosystems − aims to address this issue, by providing a framework that establishes protection goals and baselines for European agro-ecosystems, improves knowledge on the potential long term environmental effects of genetically modified (GM plants, tests the efficacy of the EFSA Guidance Document for the Environmental Risk Assessment, explores new strategies for post market monitoring, and provides a systematic analysis of economic aspects of Genetically Modified crops cultivation in the EU. Research focuses on ecological studies in different EU regions, the sustainability of GM crops is estimated by analysing the functional components of the agro-ecosystems and specific experimental protocols are being developed for this scope.

  4. Alcohol-related cancers and genetic susceptibility in Europe: the ARCAGE project: study samples and data collection.

    LENUS (Irish Health Repository)

    Lagiou, Pagona

    2009-02-01

    Cancers of the upper aerodigestive tract (UADT) include those of the oral cavity, pharynx (other than nasopharynx), larynx, and esophagus. Tobacco smoking and consumption of alcoholic beverages are established causes of UADT cancers, whereas reduced intake of vegetables and fruits are likely causes. The role of genetic predisposition and possible interactions of genetic with exogenous factors, however, have not been adequately studied. Moreover, the role of pattern of smoking and drinking, as well as the exact nature of the implicated dietary variables, has not been clarified. To address these issues, the International Agency for Research on Cancer initiated in 2002 the alcohol-related cancers and genetic susceptibility (ARCAGE) in Europe project, with the participation of 15 centers in 11 European countries. Information and biological data from a total of 2304 cases and 2227 controls have been collected and will be used in a series of analyses. A total of 166 single nucleotide polymorphisms of 76 genes are being studied for genetic associations with UADT cancers. We report here the methodology of the ARCAGE project, main demographic and lifestyle characteristics of the cases and controls, as well as the distribution of cases by histology and subsite. About 80% of cases were males and fewer than 20% of all cases occurred before the age of 50 years. Overall, the most common subsite was larynx, followed by oral cavity, oropharynx, esophagus and hypopharynx. Close to 90% of UADT cancers were squamous cell carcinomas. A clear preponderance of smokers and alcohol drinkers among UADT cases compared with controls was observed.

  5. Enhancing the Internationalisation of Distance Education in the Biological Sciences: The DUNE Project and Genetic Engineering.

    Science.gov (United States)

    Leach, C. K.; And Others

    1997-01-01

    Describes the Distance Educational Network of Europe (DUNE) project that aims at enhancing the development of distance education in an international context. Highlights issues relating to the delivery of distance-learning courses in a transnational forum. Describes the genetic engineering course that aims at explaining the core techniques of…

  6. Genetics, health care, and public policy: an introduction to public health genetics

    National Research Council Canada - National Science Library

    Stewart, Alison

    2007-01-01

    ... initiative About this book Further reading and resources Principles of public health The emergence of public health genetics The human genome project and 'genomic medicine' Community genetics Current developments in public health genetics Genomics and global health 2 Genetic science and technology Basic molecular genetics Genes and the geno...

  7. Understanding our genetic inheritance: The US Human Genome Project, The first five years FY 1991--1995

    Energy Technology Data Exchange (ETDEWEB)

    None

    1990-04-01

    The Human Genome Initiative is a worldwide research effort with the goal of analyzing the structure of human DNA and determining the location of the estimated 100,000 human genes. In parallel with this effort, the DNA of a set of model organisms will be studied to provide the comparative information necessary for understanding the functioning of the human genome. The information generated by the human genome project is expected to be the source book for biomedical science in the 21st century and will by of immense benefit to the field of medicine. It will help us to understand and eventually treat many of the more than 4000 genetic diseases that affect mankind, as well as the many multifactorial diseases in which genetic predisposition plays an important role. A centrally coordinated project focused on specific objectives is believed to be the most efficient and least expensive way of obtaining this information. The basic data produced will be collected in electronic databases that will make the information readily accessible on convenient form to all who need it. This report describes the plans for the U.S. human genome project and updates those originally prepared by the Office of Technology Assessment (OTA) and the National Research Council (NRC) in 1988. In the intervening two years, improvements in technology for almost every aspect of genomics research have taken place. As a result, more specific goals can now be set for the project.

  8. Genetic modification of the human germ line: The reasons why this project has no future.

    Science.gov (United States)

    Morange, Michel

    2015-01-01

    Modification of the human germ line has remained a distant but valuable objective for most biologists since the emergence of genetics (and even before). To study the historical transformations of this project, I have selected three periods - the 1930s, at the pinnacle of eugenics, around 1974 when molecular biology triumphed, and today - and have adopted three criteria to estimate the feasibility of this project: the state of scientific knowledge, the existence of suitable tools, and societal demands. Although the long-awaited techniques to modify the germ line are now available, I will show that most of the expectations behind this project have disappeared, or are considered as being reachable by highly different strategies. Copyright © 2015 Académie des sciences. Published by Elsevier SAS. All rights reserved.

  9. The Human Genome Diversity Project

    Energy Technology Data Exchange (ETDEWEB)

    Cavalli-Sforza, L. [Stanford Univ., CA (United States)

    1994-12-31

    The Human Genome Diversity Project (HGD Project) is an international anthropology project that seeks to study the genetic richness of the entire human species. This kind of genetic information can add a unique thread to the tapestry knowledge of humanity. Culture, environment, history, and other factors are often more important, but humanity`s genetic heritage, when analyzed with recent technology, brings another type of evidence for understanding species` past and present. The Project will deepen the understanding of this genetic richness and show both humanity`s diversity and its deep and underlying unity. The HGD Project is still largely in its planning stages, seeking the best ways to reach its goals. The continuing discussions of the Project, throughout the world, should improve the plans for the Project and their implementation. The Project is as global as humanity itself; its implementation will require the kinds of partnerships among different nations and cultures that make the involvement of UNESCO and other international organizations particularly appropriate. The author will briefly discuss the Project`s history, describe the Project, set out the core principles of the Project, and demonstrate how the Project will help combat the scourge of racism.

  10. 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

  11. The RadGenomics project. Prediction for radio-susceptibility of individuals with genetic predisposition

    International Nuclear Information System (INIS)

    Imai, Takashi

    2003-01-01

    The ultimate goal of our project, named RadGenomics, is to elucidate the heterogeneity of the response to ionizing radiation arising from genetic variation among individuals, for the purpose of developing personalized radiation therapy regimens for cancer patients. Cancer patients exhibit patient-to-patient variability in normal tissue reactions after radiotherapy. Several observations support the hypothesis that the radiosensitivity of normal tissue is influenced by genetic factors. The rapid progression of human genome sequencing and the recent development of new technologies in molecular biology are providing new opportunities for elucidating the genetic basis of individual differences in susceptibility to radiation exposure. The development of a sufficiently robust, predictive assay enabling individual dose adjustment would improve the outcome of radiation therapy in patients. Our strategy for identification of DNA polymorphisms that contribute to the individual radiosensitivity is as follows. First, we have been categorizing DNA samples obtained from cancer patients, who have been kindly introduced to us through many collaborators, according to their clinical characteristics including the method and effect of treatment and side effects as scored by toxicity criteria, and also the result of an in vitro radiosensitivity assay, e.g., the micronuclei assay of their lymphocytes. Second, we have identified candidate genes for genotyping mainly by using our custom-designed oligonucleotide array with RNA samples, in which the probes were obtained from more than 40 cancer and 3 fibroblast cell lines whose radiosensitivity level was quite heterogeneous. We have also been studying the modification of proteins after irradiation of cells which may be caused by mainly phosphorylation or dephosphorylation, using mass spectrometry. Genes encoding the modified proteins and/or other proteins with which they interact such as specific protein kinases and phosphatases are also

  12. The New World of Human Genetics: A dialogue between Practitioners & the General Public on Ethical, Legal & Social Implications of the Human Genome Project

    Energy Technology Data Exchange (ETDEWEB)

    Schofield, Amy

    2014-12-08

    The history and reasons for launching the Human Genome project and the current uses of genetic human material; Identifying and discussing the major issues stemming directly from genetic research and therapy-including genetic discrimination, medical/ person privacy, allocation of government resources and individual finances, and the effect on the way in which we perceive the value of human life; Discussing the sometimes hidden ethical, social and legislative implications of genetic research and therapy such as informed consent, screening and preservation of genetic materials, efficacy of medical procedures, the role of the government, and equal access to medical coverage.

  13. RadGenomics project

    Energy Technology Data Exchange (ETDEWEB)

    Iwakawa, Mayumi; Imai, Takashi; Harada, Yoshinobu [National Inst. of Radiological Sciences, Chiba (Japan). Frontier Research Center] [and others

    2002-06-01

    Human health is determined by a complex interplay of factors, predominantly between genetic susceptibility, environmental conditions and aging. The ultimate aim of the RadGenomics (Radiation Genomics) project is to understand the implications of heterogeneity in responses to ionizing radiation arising from genetic variation between individuals in the human population. The rapid progression of the human genome sequencing and the recent development of new technologies in molecular genetics are providing us with new opportunities to understand the genetic basis of individual differences in susceptibility to natural and/or artificial environmental factors, including radiation exposure. The RadGenomics project will inevitably lead to improved protocols for personalized radiotherapy and reductions in the potential side effects of such treatment. The project will contribute to future research into the molecular mechanisms of radiation sensitivity in humans and will stimulate the development of new high-throughput technologies for a broader application of biological and medical sciences. The staff members are specialists in a variety of fields, including genome science, radiation biology, medical science, molecular biology, and informatics, and have joined the RadGenomics project from various universities, companies, and research institutes. The project started in April 2001. (author)

  14. RadGenomics project

    International Nuclear Information System (INIS)

    Iwakawa, Mayumi; Imai, Takashi; Harada, Yoshinobu

    2002-01-01

    Human health is determined by a complex interplay of factors, predominantly between genetic susceptibility, environmental conditions and aging. The ultimate aim of the RadGenomics (Radiation Genomics) project is to understand the implications of heterogeneity in responses to ionizing radiation arising from genetic variation between individuals in the human population. The rapid progression of the human genome sequencing and the recent development of new technologies in molecular genetics are providing us with new opportunities to understand the genetic basis of individual differences in susceptibility to natural and/or artificial environmental factors, including radiation exposure. The RadGenomics project will inevitably lead to improved protocols for personalized radiotherapy and reductions in the potential side effects of such treatment. The project will contribute to future research into the molecular mechanisms of radiation sensitivity in humans and will stimulate the development of new high-throughput technologies for a broader application of biological and medical sciences. The staff members are specialists in a variety of fields, including genome science, radiation biology, medical science, molecular biology, and informatics, and have joined the RadGenomics project from various universities, companies, and research institutes. The project started in April 2001. (author)

  15. Using Workflow Modeling to Identify Areas to Improve Genetic Test Processes in the University of Maryland Translational Pharmacogenomics Project.

    Science.gov (United States)

    Cutting, Elizabeth M; Overby, Casey L; Banchero, Meghan; Pollin, Toni; Kelemen, Mark; Shuldiner, Alan R; Beitelshees, Amber L

    Delivering genetic test results to clinicians is a complex process. It involves many actors and multiple steps, requiring all of these to work together in order to create an optimal course of treatment for the patient. We used information gained from focus groups in order to illustrate the current process of delivering genetic test results to clinicians. We propose a business process model and notation (BPMN) representation of this process for a Translational Pharmacogenomics Project being implemented at the University of Maryland Medical Center, so that personalized medicine program implementers can identify areas to improve genetic testing processes. We found that the current process could be improved to reduce input errors, better inform and notify clinicians about the implications of certain genetic tests, and make results more easily understood. We demonstrate our use of BPMN to improve this important clinical process for CYP2C19 genetic testing in patients undergoing invasive treatment of coronary heart disease.

  16. The CODAtwins project: the cohort description of COllaborative project of Development of Anthropometrical measures in Twins to study macro-environmental variation in genetic and environmental effects on anthropometric traits

    Science.gov (United States)

    Silventoinen, Karri; Jelenkovic, Aline; Sund, Reijo; Honda, Chika; Aaltonen, Sari; Yokoyama, Yoshie; Tarnoki, Adam D; Tarnoki, David L; Ning, Feng; Ji, Fuling; Pang, Zengchang; Ordoñana, Juan R; Sánchez-Romera, Juan F; Colodro-Conde, Lucia; Burt, S Alexandra; Klump, Kelly L; Medland, Sarah E; Montgomery, Grant W; Kandler, Christian; McAdams, Tom A; Eley, Thalia C; Gregory, Alice M; Saudino, Kimberly J; Dubois, Lise; Boivin, Michel; Haworth, Claire MA; Plomin, Robert; Öncel, Sevgi Y; Aliev, Fazil; Stazi, Maria A; Fagnani, Corrado; D'Ippolito, Cristina; Craig, Jeffrey M; Saffery, Richard; Siribaddana, Sisira H; Hotopf, Matthew; Sumathipala, Athula; Spector, Timothy; Mangino, Massimo; Lachance, Genevieve; Gatz, Margaret; Butler, David A; Bayasgalan, Gombojav; Narandalai, Danshiitsoodol; Freitas, Duarte L; Maia, José Antonio; Harden, K Paige; Tucker-Drob, Elliot M; Christensen, Kaare; Skytthe, Axel; Kyvik, Kirsten O; Hong, Changhee; Chong, Youngsook; Derom, Catherine A; Vlietinck, Robert F; Loos, Ruth JF; Cozen, Wendy; Hwang, Amie E; Mack, Thomas M; He, Mingguang; Ding, Xiaohu; Chang, Billy; Silberg, Judy L; Eaves, Lindon J; Maes, Hermine H; Cutler, Tessa L; Hopper, John L; Aujard, Kelly; Magnusson, Patrik KE; Pedersen, Nancy L; Dahl-Aslan, Anna K; Song, Yun-Mi; Yang, Sarah; Lee, Kayoung; Baker, Laura A; Tuvblad, Catherine; Bjerregaard-Andersen, Morten; Beck-Nielsen, Henning; Sodemann, Morten; Heikkilä, Kauko; Tan, Qihua; Zhang, Dongfeng; Swan, Gary E; Krasnow, Ruth; Jang, Kerry L; Knafo-Noam, Ariel; Mankuta, David; Abramson, Lior; Lichtenstein, Paul; Krueger, Robert F; McGue, Matt; Pahlen, Shandell; Tynelius, Per; Duncan, Glen E; Buchwald, Dedra; Corley, Robin P; Huibregtse, Brooke M; Nelson, Tracy L; Whitfield, Keith E; Franz, Carol E; Kremen, William S; Lyons, Michael J; Ooki, Syuichi; Brandt, Ingunn; Nilsen, Thomas Sevenius; Inui, Fujio; Watanabe, Mikio; Bartels, Meike; van Beijsterveldt, Toos CEM; Wardle, Jane; Llewellyn, Clare H; Fisher, Abigail; Rebato, Esther; Martin, Nicholas G; Iwatani, Yoshinori; Hayakawa, Kazuo; Rasmussen, Finn; Sung, Joohon; Harris, Jennifer R; Willemsen, Gonneke; Busjahn, Andreas; Goldberg, Jack H; Boomsma, Dorret I; Hur, Yoon-Mi; Sørensen, Thorkild IA; Kaprio, Jaakko

    2015-01-01

    For over one hundred years, the genetics of human anthropometric traits has attracted scientific interest. In particular, height and body mass index (BMI, calculated as kg/m2) have been under intensive genetic research. However, it is still largely unknown whether and how heritability estimates vary between human populations. Opportunities to address this question have increased recently because of the establishment of many new twin cohorts and the increasing accumulation of data in established twin cohorts. We started a new research project to analyze systematically 1) the variation of heritability estimates of height, BMI and their trajectories over the life course between birth cohorts, ethnicities and countries, and 2) to study the effects of birth related factors, education and smoking on these anthropometric traits and whether these effects vary between twin cohorts. We identified 67 twin projects including both monozygotic and dizygotic twins using various sources. We asked for individual level data on height and weight including repeated measurements, birth related traits, background variables, education and smoking. By the end of 2014, 48 projects participated. Together, we have 893,458 height and weight measures (52% females) from 434,723 twin individuals, including 201,192 complete twin pairs (40% monozygotic, 40% same-sex dizygotic and 20% opposite-sex dizygotic) representing 22 countries. This project demonstrates that large-scale international twin studies are feasible and can promote the use of existing data for novel research purposes. PMID:26014041

  17. The CODATwins Project: The Cohort Description of Collaborative Project of Development of Anthropometrical Measures in Twins to Study Macro-Environmental Variation in Genetic and Environmental Effects on Anthropometric Traits.

    Science.gov (United States)

    Silventoinen, Karri; Jelenkovic, Aline; Sund, Reijo; Honda, Chika; Aaltonen, Sari; Yokoyama, Yoshie; Tarnoki, Adam D; Tarnoki, David L; Ning, Feng; Ji, Fuling; Pang, Zengchang; Ordoñana, Juan R; Sánchez-Romera, Juan F; Colodro-Conde, Lucia; Burt, S Alexandra; Klump, Kelly L; Medland, Sarah E; Montgomery, Grant W; Kandler, Christian; McAdams, Tom A; Eley, Thalia C; Gregory, Alice M; Saudino, Kimberly J; Dubois, Lise; Boivin, Michel; Haworth, Claire M A; Plomin, Robert; Öncel, Sevgi Y; Aliev, Fazil; Stazi, Maria A; Fagnani, Corrado; D'Ippolito, Cristina; Craig, Jeffrey M; Saffery, Richard; Siribaddana, Sisira H; Hotopf, Matthew; Sumathipala, Athula; Spector, Timothy; Mangino, Massimo; Lachance, Genevieve; Gatz, Margaret; Butler, David A; Bayasgalan, Gombojav; Narandalai, Danshiitsoodol; Freitas, Duarte L; Maia, José Antonio; Harden, K Paige; Tucker-Drob, Elliot M; Christensen, Kaare; Skytthe, Axel; Kyvik, Kirsten O; Hong, Changhee; Chong, Youngsook; Derom, Catherine A; Vlietinck, Robert F; Loos, Ruth J F; Cozen, Wendy; Hwang, Amie E; Mack, Thomas M; He, Mingguang; Ding, Xiaohu; Chang, Billy; Silberg, Judy L; Eaves, Lindon J; Maes, Hermine H; Cutler, Tessa L; Hopper, John L; Aujard, Kelly; Magnusson, Patrik K E; Pedersen, Nancy L; Aslan, Anna K Dahl; Song, Yun-Mi; Yang, Sarah; Lee, Kayoung; Baker, Laura A; Tuvblad, Catherine; Bjerregaard-Andersen, Morten; Beck-Nielsen, Henning; Sodemann, Morten; Heikkilä, Kauko; Tan, Qihua; Zhang, Dongfeng; Swan, Gary E; Krasnow, Ruth; Jang, Kerry L; Knafo-Noam, Ariel; Mankuta, David; Abramson, Lior; Lichtenstein, Paul; Krueger, Robert F; McGue, Matt; Pahlen, Shandell; Tynelius, Per; Duncan, Glen E; Buchwald, Dedra; Corley, Robin P; Huibregtse, Brooke M; Nelson, Tracy L; Whitfield, Keith E; Franz, Carol E; Kremen, William S; Lyons, Michael J; Ooki, Syuichi; Brandt, Ingunn; Nilsen, Thomas Sevenius; Inui, Fujio; Watanabe, Mikio; Bartels, Meike; van Beijsterveldt, Toos C E M; Wardle, Jane; Llewellyn, Clare H; Fisher, Abigail; Rebato, Esther; Martin, Nicholas G; Iwatani, Yoshinori; Hayakawa, Kazuo; Rasmussen, Finn; Sung, Joohon; Harris, Jennifer R; Willemsen, Gonneke; Busjahn, Andreas; Goldberg, Jack H; Boomsma, Dorret I; Hur, Yoon-Mi; Sørensen, Thorkild I A; Kaprio, Jaakko

    2015-08-01

    For over 100 years, the genetics of human anthropometric traits has attracted scientific interest. In particular, height and body mass index (BMI, calculated as kg/m2) have been under intensive genetic research. However, it is still largely unknown whether and how heritability estimates vary between human populations. Opportunities to address this question have increased recently because of the establishment of many new twin cohorts and the increasing accumulation of data in established twin cohorts. We started a new research project to analyze systematically (1) the variation of heritability estimates of height, BMI and their trajectories over the life course between birth cohorts, ethnicities and countries, and (2) to study the effects of birth-related factors, education and smoking on these anthropometric traits and whether these effects vary between twin cohorts. We identified 67 twin projects, including both monozygotic (MZ) and dizygotic (DZ) twins, using various sources. We asked for individual level data on height and weight including repeated measurements, birth related traits, background variables, education and smoking. By the end of 2014, 48 projects participated. Together, we have 893,458 height and weight measures (52% females) from 434,723 twin individuals, including 201,192 complete twin pairs (40% monozygotic, 40% same-sex dizygotic and 20% opposite-sex dizygotic) representing 22 countries. This project demonstrates that large-scale international twin studies are feasible and can promote the use of existing data for novel research purposes.

  18. Genetic Science Learning Center

    Science.gov (United States)

    Genetic Science Learning Center Making science and health easy for everyone to understand Home News Our Team What We Do ... Collaboration Conferences Current Projects Publications Contact The Genetic Science Learning Center at The University of Utah is a ...

  19. Molecular Cloning Designer Simulator (MCDS: All-in-one molecular cloning and genetic engineering design, simulation and management software for complex synthetic biology and metabolic engineering projects

    Directory of Open Access Journals (Sweden)

    Zhenyu Shi

    2016-12-01

    Full Text Available Molecular Cloning Designer Simulator (MCDS is a powerful new all-in-one cloning and genetic engineering design, simulation and management software platform developed for complex synthetic biology and metabolic engineering projects. In addition to standard functions, it has a number of features that are either unique, or are not found in combination in any one software package: (1 it has a novel interactive flow-chart user interface for complex multi-step processes, allowing an integrated overview of the whole project; (2 it can perform a user-defined workflow of cloning steps in a single execution of the software; (3 it can handle multiple types of genetic recombineering, a technique that is rapidly replacing classical cloning for many applications; (4 it includes experimental information to conveniently guide wet lab work; and (5 it can store results and comments to allow the tracking and management of the whole project in one platform. MCDS is freely available from https://mcds.codeplex.com. Keywords: BioCAD, Genetic engineering software, Molecular cloning software, Synthetic biology, Workflow simulation and management

  20. Desktop Genetics

    OpenAIRE

    Hough, Soren H; Ajetunmobi, Ayokunmi; Brody, Leigh; Humphryes-Kirilov, Neil; Perello, Edward

    2016-01-01

    Desktop Genetics is a bioinformatics company building a gene-editing platform for personalized medicine. The company works with scientists around the world to design and execute state-of-the-art clustered regularly interspaced short palindromic repeats (CRISPR) experiments. Desktop Genetics feeds the lessons learned about experimental intent, single-guide RNA design and data from international genomics projects into a novel CRISPR artificial intelligence system. We believe that machine learni...

  1. 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

  2. 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 ...

  3. 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.

  4. 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.

  5. Yakima/Klickitat Fisheries Project Genetic Studies; Yakima/Klickitat Fisheries Project Monitoring and Evaluation, 2000-2001 Annual Report.

    Energy Technology Data Exchange (ETDEWEB)

    Busack, Craig A.; Schroder, Steven L.; Young, Sewall F. (Washington Department of Fish and Wildlife, Olympia, WA)

    2002-11-01

    Genetic work for 2001 consisted of two major phases, both reported on here. The first is a DNA microsatellite analysis of several hundred juveniles from the experimental spawning channel at the Cle Elum Supplementation Research Facility, using the genetic markers to assign the juveniles to parents, and thus judge reproductive success of individual fish. The second is a reevaluation and revision of plans for studying domestication in the spring chinook supplementation effort. The pedigree analysis was significant in three respects. First, it showed that this approach can be successfully applied to the spawning channel research. Secondly it showed that this approach does indeed yield very useful information about the relative reproductive success of fish in the channel. Finally, it showed that this information can yield additional information about the experimental design. Of the 961 juveniles on which analysis was attempted, 774 yielded enough genetic information to be used in the pedigree analysis. Of these, 754 were assigned to males and females known to have been placed into the channel. Of the other 20, all were assignable to females, but sires were unknown. The genotypes of 17 of these were consistent with a single theoretical male genotype, suggesting a single precocial male sired them. The inferred parentage of the fish demonstrated that there had been substantial leakage of juveniles from one section of the channel into another. Reproductive success of females was fairly even, but success of males varied considerably. In a group of seven males (including the hypothetical one), one contributed 79% of the progeny analyzed, and three contributed none. The domestication experimental design evaluation was prompted by a critical review of the project by the Independent Scientific Review Panel (ISRP). The ISRP review set into motion a design revision process which extended beyond the contract period; the report presented here is intended to be an account of our

  6. Genetics of kidney disease and related cardiometabolic phenotypes in Zuni Indians: The Zuni Kidney Project

    Directory of Open Access Journals (Sweden)

    Sandra L Laston

    2015-01-01

    Full Text Available The objective of this study is to identify genetic factors associated with chronic kidney disease (CKD and related cardiometabolic phenotypes among participants of the Genetics of Kidney Disease in Zuni Indians study. The study was conducted as a community-based participatory research project in the Zuni Indians, a small endogamous tribe in rural New Mexico. We recruited 998 members from 28 extended multigenerational families, ascertained through probands with CKD who had at least one sibling with CKD. We used the Illumina Infinium Human1M-Duo v3.0 BeadChips to type 1.1 million single nucleotide polymorphisms (SNPs. Prevalence estimates for CKD, hyperuricemia, diabetes and hypertension were 24%, 30%, 17% and 34%, respectively. We found a significant (p<1.58 × 10-7 association for a SNP in a novel gene for serum creatinine (PTPLAD2. We replicated significant associations for genes with serum uric acid (SLC2A9, triglyceride levels (APOA1, BUD13, ZNF259, and total cholesterol (PVRL2. We found novel suggestive associations (p<1.58 × 10-6 for SNPs in genes with systolic (OLFML2B, and diastolic blood pressure (NFIA. We identified a series of genes associated with CKD and related cardiometabolic phenotypes among Zuni Indians, a population with a high prevalence of kidney disease. Illuminating genetic variations that modulate the risk for these disorders may ultimately provide a basis for novel preventive strategies and therapeutic interventions.

  7. Genomics and the human genome project: implications for psychiatry

    OpenAIRE

    Kelsoe, J R

    2004-01-01

    In the past decade the Human Genome Project has made extraordinary strides in understanding of fundamental human genetics. The complete human genetic sequence has been determined, and the chromosomal location of almost all human genes identified. Presently, a large international consortium, the HapMap Project, is working to identify a large portion of genetic variation in different human populations and the structure and relationship of these variants to each other. The Human Genome Project h...

  8. Pleiotropy of genetic variants on obesity and smoking phenotypes: Results from the Oncoarray Project of The International Lung Cancer Consortium.

    Directory of Open Access Journals (Sweden)

    Tao Wang

    Full Text Available Obesity and cigarette smoking are correlated through complex relationships. Common genetic causes may contribute to these correlations. In this study, we selected 241 loci potentially associated with body mass index (BMI based on the Genetic Investigation of ANthropometric Traits (GIANT consortium data and calculated a BMI genetic risk score (BMI-GRS for 17,037 individuals of European descent from the Oncoarray Project of the International Lung Cancer Consortium (ILCCO. Smokers had a significantly higher BMI-GRS than never-smokers (p = 0.016 and 0.010 before and after adjustment for BMI, respectively. The BMI-GRS was also positively correlated with pack-years of smoking (p<0.001 in smokers. Based on causal network inference analyses, seven and five of 241 SNPs were classified to pleiotropic models for BMI/smoking status and BMI/pack-years, respectively. Among them, three and four SNPs associated with smoking status and pack-years (p<0.05, respectively, were followed up in the ever-smoking data of the Tobacco, Alcohol and Genetics (TAG consortium. Among these seven candidate SNPs, one SNP (rs11030104, BDNF achieved statistical significance after Bonferroni correction for multiple testing, and three suggestive SNPs (rs13021737, TMEM18; rs11583200, ELAVL4; and rs6990042, SGCZ achieved a nominal statistical significance. Our results suggest that there is a common genetic component between BMI and smoking, and pleiotropy analysis can be useful to identify novel genetic loci of complex phenotypes.

  9. Desktop Genetics.

    Science.gov (United States)

    Hough, Soren H; Ajetunmobi, Ayokunmi; Brody, Leigh; Humphryes-Kirilov, Neil; Perello, Edward

    2016-11-01

    Desktop Genetics is a bioinformatics company building a gene-editing platform for personalized medicine. The company works with scientists around the world to design and execute state-of-the-art clustered regularly interspaced short palindromic repeats (CRISPR) experiments. Desktop Genetics feeds the lessons learned about experimental intent, single-guide RNA design and data from international genomics projects into a novel CRISPR artificial intelligence system. We believe that machine learning techniques can transform this information into a cognitive therapeutic development tool that will revolutionize medicine.

  10. Consent, ethics and genetic biobanks: the case of the Athlome project.

    Science.gov (United States)

    Thompson, Rachel; McNamee, Michael J

    2017-11-14

    This article provides a critical overview of the ethics and governance of genetic biobank research, using the Athlome Consortium as a large scale instance of collaborative sports genetic biobanking. We present a traditional model of written informed consent for the acquisition, storage, sharing and analysis of genetic data and articulate the challenges to it from new research practices such as genetic biobanking. We then articulate six possible alternative consent models: verbal consent, blanket consent, broad consent, meta consent, dynamic consent and waived consent. We argue that these models or conceptions of consent must be articulated in the context of the complexities of international legislation and non legislative national and international biobank governance frameworks and policies, those which govern research in the field of sports genetics. We discuss the tensions between individual rights and public benefits of genomic research as a critical ethical issue, particularly where benefits are less obvious, as in sports genomics. The inherent complexities of international regulation and biobanking governance are challenging in a relatively young field. We argue that there is much nuanced ethical work still to be done with regard to governance of sports genetic biobanking and the issues contained therein.

  11. Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP project: study design and methods for pooling results of genetic epidemiological studies

    Directory of Open Access Journals (Sweden)

    Raimondi Sara

    2012-08-01

    Full Text Available Abstract Background For complex diseases like cancer, pooled-analysis of individual data represents a powerful tool to investigate the joint contribution of genetic, phenotypic and environmental factors to the development of a disease. Pooled-analysis of epidemiological studies has many advantages over meta-analysis, and preliminary results may be obtained faster and with lower costs than with prospective consortia. Design and methods Based on our experience with the study design of the Melanocortin-1 receptor (MC1R gene, SKin cancer and Phenotypic characteristics (M-SKIP project, we describe the most important steps in planning and conducting a pooled-analysis of genetic epidemiological studies. We then present the statistical analysis plan that we are going to apply, giving particular attention to methods of analysis recently proposed to account for between-study heterogeneity and to explore the joint contribution of genetic, phenotypic and environmental factors in the development of a disease. Within the M-SKIP project, data on 10,959 skin cancer cases and 14,785 controls from 31 international investigators were checked for quality and recoded for standardization. We first proposed to fit the aggregated data with random-effects logistic regression models. However, for the M-SKIP project, a two-stage analysis will be preferred to overcome the problem regarding the availability of different study covariates. The joint contribution of MC1R variants and phenotypic characteristics to skin cancer development will be studied via logic regression modeling. Discussion Methodological guidelines to correctly design and conduct pooled-analyses are needed to facilitate application of such methods, thus providing a better summary of the actual findings on specific fields.

  12. Melanocortin-1 receptor, skin cancer and phenotypic characteristics (M-SKIP) project: study design and methods for pooling results of genetic epidemiological studies

    Science.gov (United States)

    2012-01-01

    Background For complex diseases like cancer, pooled-analysis of individual data represents a powerful tool to investigate the joint contribution of genetic, phenotypic and environmental factors to the development of a disease. Pooled-analysis of epidemiological studies has many advantages over meta-analysis, and preliminary results may be obtained faster and with lower costs than with prospective consortia. Design and methods Based on our experience with the study design of the Melanocortin-1 receptor (MC1R) gene, SKin cancer and Phenotypic characteristics (M-SKIP) project, we describe the most important steps in planning and conducting a pooled-analysis of genetic epidemiological studies. We then present the statistical analysis plan that we are going to apply, giving particular attention to methods of analysis recently proposed to account for between-study heterogeneity and to explore the joint contribution of genetic, phenotypic and environmental factors in the development of a disease. Within the M-SKIP project, data on 10,959 skin cancer cases and 14,785 controls from 31 international investigators were checked for quality and recoded for standardization. We first proposed to fit the aggregated data with random-effects logistic regression models. However, for the M-SKIP project, a two-stage analysis will be preferred to overcome the problem regarding the availability of different study covariates. The joint contribution of MC1R variants and phenotypic characteristics to skin cancer development will be studied via logic regression modeling. Discussion Methodological guidelines to correctly design and conduct pooled-analyses are needed to facilitate application of such methods, thus providing a better summary of the actual findings on specific fields. PMID:22862891

  13. The analysis of APOL1 genetic variation and haplotype diversity provided by 1000 Genomes project.

    Science.gov (United States)

    Peng, Ting; Wang, Li; Li, Guisen

    2017-08-11

    The APOL1 gene variants has been shown to be associated with an increased risk of multiple kinds of diseases, particularly in African Americans, but not in Caucasians and Asians. In this study, we explored the single nucleotide polymorphism (SNP) and haplotype diversity of APOL1 gene in different races provided by 1000 Genomes project. Variants of APOL1 gene in 1000 Genome Project were obtained and SNPs located in the regulatory region or coding region were selected for genetic variation analysis. Total 2504 individuals from 26 populations were classified as four groups that included Africa, Europe, Asia and Admixed populations. Tag SNPs were selected to evaluate the haplotype diversities in the four populations by HaploStats software. APOL1 gene was surrounded by some of the most polymorphic genes in the human genome, variation of APOL1 gene was common, with up to 613 SNP (1000 Genome Project reported) and 99 of them (16.2%) with MAF ≥ 1%. There were 79 SNPs in the URR and 92 SNPs in 3'UTR. Total 12 SNPs in URR and 24 SNPs in 3'UTR were considered as common variants with MAF ≥ 1%. It is worth noting that URR-1 was presents lower frequencies in European populations, while other three haplotypes taken an opposite pattern; 3'UTR presents several high-frequency variation sites in a short segment, and the differences of its haplotypes among different population were significant (P < 0.01), UTR-1 and UTR-5 presented much higher frequency in African population, while UTR-2, UTR-3 and UTR-4 were much lower. APOL1 coding region showed that two SNP of G1 with higher frequency are actually pull down the haplotype H-1 frequency when considering all populations pooled together, and the diversity among the four populations be widen by the G1 two mutation (P 1  = 3.33E-4 vs P 2  = 3.61E-30). The distributions of APOL1 gene variants and haplotypes were significantly different among the different populations, in either regulatory or coding regions. It could provide

  14. 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.

  15. Introduction to the Arizona Sky Island Arthropod Project (ASAP): Systematics, biogeography, ecology, and population genetics of arthropods of the Madrean Sky Islands

    Science.gov (United States)

    Wendy Moore; Wallace M. Meyer; Jeffrey A. Eble; Kimberly Franklin; John F. Wiens; Richard C. Brusca

    2013-01-01

    The Arizona Sky Island Arthropod Project (ASAP) is a new multi-disciplinary research program at the University of Arizona that combines systematics, biogeography, ecology, and population genetics to study origins and patterns of arthropod diversity along elevation gradients and among mountain ranges in the Madrean Sky Island Region. Arthropods represent taxonomically...

  16. Specific Genetic Disorders

    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 ...

  17. Molecular Cloning Designer Simulator (MCDS): All-in-one molecular cloning and genetic engineering design, simulation and management software for complex synthetic biology and metabolic engineering projects.

    Science.gov (United States)

    Shi, Zhenyu; Vickers, Claudia E

    2016-12-01

    Molecular Cloning Designer Simulator (MCDS) is a powerful new all-in-one cloning and genetic engineering design, simulation and management software platform developed for complex synthetic biology and metabolic engineering projects. In addition to standard functions, it has a number of features that are either unique, or are not found in combination in any one software package: (1) it has a novel interactive flow-chart user interface for complex multi-step processes, allowing an integrated overview of the whole project; (2) it can perform a user-defined workflow of cloning steps in a single execution of the software; (3) it can handle multiple types of genetic recombineering, a technique that is rapidly replacing classical cloning for many applications; (4) it includes experimental information to conveniently guide wet lab work; and (5) it can store results and comments to allow the tracking and management of the whole project in one platform. MCDS is freely available from https://mcds.codeplex.com.

  18. 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

  19. The Sphagnome Project: enabling ecological and evolutionary insights through a genus-level sequencing project.

    Science.gov (United States)

    Weston, David J; Turetsky, Merritt R; Johnson, Matthew G; Granath, Gustaf; Lindo, Zoë; Belyea, Lisa R; Rice, Steven K; Hanson, David T; Engelhardt, Katharina A M; Schmutz, Jeremy; Dorrepaal, Ellen; Euskirchen, Eugénie S; Stenøien, Hans K; Szövényi, Péter; Jackson, Michelle; Piatkowski, Bryan T; Muchero, Wellington; Norby, Richard J; Kostka, Joel E; Glass, Jennifer B; Rydin, Håkan; Limpens, Juul; Tuittila, Eeva-Stiina; Ullrich, Kristian K; Carrell, Alyssa; Benscoter, Brian W; Chen, Jin-Gui; Oke, Tobi A; Nilsson, Mats B; Ranjan, Priya; Jacobson, Daniel; Lilleskov, Erik A; Clymo, R S; Shaw, A Jonathan

    2018-01-01

    Considerable progress has been made in ecological and evolutionary genetics with studies demonstrating how genes underlying plant and microbial traits can influence adaptation and even 'extend' to influence community structure and ecosystem level processes. Progress in this area is limited to model systems with deep genetic and genomic resources that often have negligible ecological impact or interest. Thus, important linkages between genetic adaptations and their consequences at organismal and ecological scales are often lacking. Here we introduce the Sphagnome Project, which incorporates genomics into a long-running history of Sphagnum research that has documented unparalleled contributions to peatland ecology, carbon sequestration, biogeochemistry, microbiome research, niche construction, and ecosystem engineering. The Sphagnome Project encompasses a genus-level sequencing effort that represents a new type of model system driven not only by genetic tractability, but by ecologically relevant questions and hypotheses. © 2017 UT-Battelle New Phytologist © 2017 New Phytologist Trust.

  20. 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

  1. Predictive genetic tests: problems and pitfalls.

    Science.gov (United States)

    Davis, J G

    1997-12-29

    The role that genetic factors play in medicine has expanded, owing to such recent advances as those made by the Human Genome Project and the work that has spun off from it. The project is focusing particularly on localization and characterization of recognized human genetic disorders, which in turn increases awareness of the potential for improved treatment of these disorders. Technical advances in genetic testing in the absence of effective treatment has presented the health profession with major ethical challenges. The example of the identification of the BRCA1 and BRCA2 genes in families at high risk for breast and ovarian cancer is presented to illustrate the issues of the sensitivity of the method, the degree of susceptibility a positive result implies, the need for and availability of counseling and patient education, and confidentiality of the test results. A compelling need exists for adequate education about medical genetics to raise the "literacy" rate among health professionals.

  2. Genetic regulation of immunoglobulin E level in different pathological states: integration of mouse and human genetics

    Czech Academy of Sciences Publication Activity Database

    Gusareva, Elena; Kurey, Irina; Grekov, Igor; Lipoldová, Marie

    2014-01-01

    Roč. 89, č. 2 (2014), s. 375-405 ISSN 1464-7931 R&D Projects: GA ČR GA310/08/1697; GA MŠk LH12049 Institutional support: RVO:68378050 Keywords : Genetic control of complex diseases * Immunoglobulin E * Epistasis Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 9.670, year: 2014

  3. An integrated system for genetic analysis

    Directory of Open Access Journals (Sweden)

    Duan Xiao

    2006-04-01

    Full Text Available Abstract Background Large-scale genetic mapping projects require data management systems that can handle complex phenotypes and detect and correct high-throughput genotyping errors, yet are easy to use. Description We have developed an Integrated Genotyping System (IGS to meet this need. IGS securely stores, edits and analyses genotype and phenotype data. It stores information about DNA samples, plates, primers, markers and genotypes generated by a genotyping laboratory. Data are structured so that statistical genetic analysis of both case-control and pedigree data is straightforward. Conclusion IGS can model complex phenotypes and contain genotypes from whole genome association studies. The database makes it possible to integrate genetic analysis with data curation. The IGS web site http://bioinformatics.well.ox.ac.uk/project-igs.shtml contains further information.

  4. The Genetics of Endophenotypes of Neurofunction to Understand Schizophrenia (GENUS) consortium: A collaborative cognitive and neuroimaging genetics project.

    Science.gov (United States)

    Blokland, Gabriëlla A M; Del Re, Elisabetta C; Mesholam-Gately, Raquelle I; Jovicich, Jorge; Trampush, Joey W; Keshavan, Matcheri S; DeLisi, Lynn E; Walters, James T R; Turner, Jessica A; Malhotra, Anil K; Lencz, Todd; Shenton, Martha E; Voineskos, Aristotle N; Rujescu, Dan; Giegling, Ina; Kahn, René S; Roffman, Joshua L; Holt, Daphne J; Ehrlich, Stefan; Kikinis, Zora; Dazzan, Paola; Murray, Robin M; Di Forti, Marta; Lee, Jimmy; Sim, Kang; Lam, Max; Wolthusen, Rick P F; de Zwarte, Sonja M C; Walton, Esther; Cosgrove, Donna; Kelly, Sinead; Maleki, Nasim; Osiecki, Lisa; Picchioni, Marco M; Bramon, Elvira; Russo, Manuela; David, Anthony S; Mondelli, Valeria; Reinders, Antje A T S; Falcone, M Aurora; Hartmann, Annette M; Konte, Bettina; Morris, Derek W; Gill, Michael; Corvin, Aiden P; Cahn, Wiepke; Ho, New Fei; Liu, Jian Jun; Keefe, Richard S E; Gollub, Randy L; Manoach, Dara S; Calhoun, Vince D; Schulz, S Charles; Sponheim, Scott R; Goff, Donald C; Buka, Stephen L; Cherkerzian, Sara; Thermenos, Heidi W; Kubicki, Marek; Nestor, Paul G; Dickie, Erin W; Vassos, Evangelos; Ciufolini, Simone; Reis Marques, Tiago; Crossley, Nicolas A; Purcell, Shaun M; Smoller, Jordan W; van Haren, Neeltje E M; Toulopoulou, Timothea; Donohoe, Gary; Goldstein, Jill M; Seidman, Larry J; McCarley, Robert W; Petryshen, Tracey L

    2018-05-01

    Schizophrenia has a large genetic component, and the pathways from genes to illness manifestation are beginning to be identified. The Genetics of Endophenotypes of Neurofunction to Understand Schizophrenia (GENUS) Consortium aims to clarify the role of genetic variation in brain abnormalities underlying schizophrenia. This article describes the GENUS Consortium sample collection. We identified existing samples collected for schizophrenia studies consisting of patients, controls, and/or individuals at familial high-risk (FHR) for schizophrenia. Samples had single nucleotide polymorphism (SNP) array data or genomic DNA, clinical and demographic data, and neuropsychological and/or brain magnetic resonance imaging (MRI) data. Data were subjected to quality control procedures at a central site. Sixteen research groups contributed data from 5199 psychosis patients, 4877 controls, and 725 FHR individuals. All participants have relevant demographic data and all patients have relevant clinical data. The sex ratio is 56.5% male and 43.5% female. Significant differences exist between diagnostic groups for premorbid and current IQ (both pneuropsychological tests are available for 92% of participants, and 30% have structural MRI scans (half also have diffusion-weighted MRI scans). SNP data are available for 76% of participants. The ancestry composition is 70% European, 20% East Asian, 7% African, and 3% other. The Consortium is investigating the genetic contribution to brain phenotypes in a schizophrenia sample collection of >10,000 participants. The breadth of data across clinical, genetic, neuropsychological, and MRI modalities provides an important opportunity for elucidating the genetic basis of neural processes underlying schizophrenia. Copyright © 2017 Elsevier B.V. All rights reserved.

  5. Problem solving with genetic algorithms and Splicer

    Science.gov (United States)

    Bayer, Steven E.; Wang, Lui

    1991-01-01

    Genetic algorithms are highly parallel, adaptive search procedures (i.e., problem-solving methods) loosely based on the processes of population genetics and Darwinian survival of the fittest. Genetic algorithms have proven useful in domains where other optimization techniques perform poorly. The main purpose of the paper is to discuss a NASA-sponsored software development project to develop a general-purpose tool for using genetic algorithms. The tool, called Splicer, can be used to solve a wide variety of optimization problems and is currently available from NASA and COSMIC. This discussion is preceded by an introduction to basic genetic algorithm concepts and a discussion of genetic algorithm applications.

  6. Introduction to the Arizona Sky Island Arthropod Project (ASAP): Systematics, Biogeography, Ecology, and Population Genetics of Arthropods of the Madrean Sky Islands.

    Science.gov (United States)

    Moore, Wendy; Meyer, Wallace M; Eble, Jeffrey A; Franklin, Kimberly; Wiens, John F; Brusca, Richard C

    2013-01-01

    The Arizona Sky Island Arthropod Project (ASAP) is a new multi-disciplinary research program at the University of Arizona that combines systematics, biogeography, ecology, and population genetics to study origins and patterns of arthropod diversity along elevation gradients and among mountain ranges in the Madrean Sky Island Region. Arthropods represent taxonomically and ecologically diverse organisms that drive key ecosystem processes in this mountain archipelago. Using data from museum specimens and specimens we obtain during long-term collecting and monitoring programs, ASAP will document arthropod species across Arizona's Sky Islands to address a number of fundamental questions about arthropods of this region. Baseline data will be used to determine climatic boundaries for target species, which will then be integrated with climatological models to predict future changes in arthropod communities and distributions in the wake of rapid climate change. ASAP also makes use of the natural laboratory provided by the Sky Islands to investigate ecological and genetic factors that influence diversification and patterns of community assembly. Here, we introduce the project, outline overarching goals, and describe preliminary data from the first year of sampling ground-dwelling beetles and ants in the Santa Catalina Mountains.

  7. 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…

  8. Analysis of genetic variation in different sheep breeds using ...

    African Journals Online (AJOL)

    SERVER

    2008-04-17

    Apr 17, 2008 ... Department of Cell Biology, Genetic Engineering Division, National Research Center, Dokki, Giza, .... polymerase chain reaction (PCR) using genomic DNA extracted ..... Technology, Egypt through the project titled "Genetic.

  9. On Gene Concepts and Teaching Genetics: Episodes from Classical Genetics

    Science.gov (United States)

    Burian, Richard M.

    2013-02-01

    This paper addresses the teaching of advanced high school courses or undergraduate courses for non-biology majors about genetics or history of genetics. It will probably be difficult to take the approach described here in a high school science course, although the general approach could help improve such courses. It would be ideal for a college course in history of genetics or a course designed to teach non-science majors how science works or the rudiments of the genetics in a way that will help them as citizens. The approach aims to teach the processes of discovery, correction, and validation by utilizing illustrative episodes from the history of genetics. The episodes are treated in way that should foster understanding of basic questions about genes, the sorts of techniques used to answer questions about the constitution and structure of genes, how they function, and what they determine, and some of the major biological disagreements that arose in dealing with these questions. The material covered here could be connected to social and political issues raised by genetics, but these connections are not surveyed here. As it is, to cover this much territory, the article is limited to four major episodes from Mendel's paper to the beginning of World War II. A sequel will deal with the molecularization of genetics and with molecular gene concepts through the Human Genome Project.

  10. EUROFANCOLEN Project

    International Nuclear Information System (INIS)

    Bueren, J. A.

    2014-01-01

    The first follow-up report of European Project EUROFANCOLEN, the purpose of which is to develop a gene therapy clinical trial to resolve bone marrow failure in patients with a genetic disease known as Fanconi anemia (FA), was sent to the European Commission in September. The main objective of project EUROFANCOLEN is to develop a gene therapy trial for patients with Fanconi anemia Type A (FA-A), which affects 80% of the patients with FA in Spain. (Author)

  11. The GenoChip: a new tool for genetic anthropology.

    Science.gov (United States)

    Elhaik, Eran; Greenspan, Elliott; Staats, Sean; Krahn, Thomas; Tyler-Smith, Chris; Xue, Yali; Tofanelli, Sergio; Francalacci, Paolo; Cucca, Francesco; Pagani, Luca; Jin, Li; Li, Hui; Schurr, Theodore G; Greenspan, Bennett; Spencer Wells, R

    2013-01-01

    The Genographic Project is an international effort aimed at charting human migratory history. The project is nonprofit and nonmedical, and, through its Legacy Fund, supports locally led efforts to preserve indigenous and traditional cultures. Although the first phase of the project was focused on uniparentally inherited markers on the Y-chromosome and mitochondrial DNA (mtDNA), the current phase focuses on markers from across the entire genome to obtain a more complete understanding of human genetic variation. Although many commercial arrays exist for genome-wide single-nucleotide polymorphism (SNP) genotyping, they were designed for medical genetic studies and contain medically related markers that are inappropriate for global population genetic studies. GenoChip, the Genographic Project's new genotyping array, was designed to resolve these issues and enable higher resolution research into outstanding questions in genetic anthropology. The GenoChip includes ancestry informative markers obtained for over 450 human populations, an ancient human (Saqqaq), and two archaic hominins (Neanderthal and Denisovan) and was designed to identify all known Y-chromosome and mtDNA haplogroups. The chip was carefully vetted to avoid inclusion of medically relevant markers. To demonstrate its capabilities, we compared the FST distributions of GenoChip SNPs to those of two commercial arrays. Although all arrays yielded similarly shaped (inverse J) FST distributions, the GenoChip autosomal and X-chromosomal distributions had the highest mean FST, attesting to its ability to discern subpopulations. The chip performances are illustrated in a principal component analysis for 14 worldwide populations. In summary, the GenoChip is a dedicated genotyping platform for genetic anthropology. With an unprecedented number of approximately 12,000 Y-chromosomal and approximately 3,300 mtDNA SNPs and over 130,000 autosomal and X-chromosomal SNPs without any known health, medical, or phenotypic

  12. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    An application of the method is illustrated using data on two alcohol-related phenotypes from a project on the collaborative study on the genetics of alcoholism. pp 147-171 Research Article. Population genetic analysis of cat populations from Mexico, Colombia, Bolivia, and the Dominican Republic: identification of different ...

  13. It's Not Your Grandmother's Genetics Anymore!

    Science.gov (United States)

    Smith, Mike U.

    2014-01-01

    Genetics is perhaps the most rapidly growing field of science today. Recent findings such as those of the Human Genome Project have led to new understandings of basic genetic phenomena and even to increased confusion about some basic genetic ideas, such as the nature of the gene. These developments directly influence how we should teach genetics.…

  14. Nuclear reactors project optimization based on neural network and genetic algorithm

    International Nuclear Information System (INIS)

    Pereira, Claudio M.N.A.; Schirru, Roberto; Martinez, Aquilino S.

    1997-01-01

    This work presents a prototype of a system for nuclear reactor core design optimization based on genetic algorithms and artificial neural networks. A neural network is modeled and trained in order to predict the flux and the neutron multiplication factor values based in the enrichment, network pitch and cladding thickness, with average error less than 2%. The values predicted by the neural network are used by a genetic algorithm in this heuristic search, guided by an objective function that rewards the high flux values and penalizes multiplication factors far from the required value. Associating the quick prediction - that may substitute the reactor physics calculation code - with the global optimization capacity of the genetic algorithm, it was obtained a quick and effective system for nuclear reactor core design optimization. (author). 11 refs., 8 figs., 3 tabs

  15. Female choice for genetic complementarity in birds: a review

    Czech Academy of Sciences Publication Activity Database

    Mays Jr., H. L.; Albrecht, Tomáš; Liu, M.; Hill, G. E.

    2008-01-01

    Roč. 134, č. 1 (2008), s. 147-158 ISSN 0016-6707 R&D Projects: GA ČR GA206/06/0851 Institutional research plan: CEZ:AV0Z60930519 Keywords : Female mate choice * Genetic compatibility * Genetic complementarity * Heterosis * Heterozygosity * Sexual selection Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.980, year: 2008

  16. Getting Ready for the Human Phenome Project

    DEFF Research Database (Denmark)

    Oetting, William S; Robinson, Peter N; Greenblatt, Marc S

    2013-01-01

    A forum of the Human Variome Project (HVP) was held as a satellite to the 2012 Annual Meeting of the American Society of Human Genetics in San Francisco, California. The theme of this meeting was "Getting Ready for the Human Phenome Project". Understanding the genetic contribution to both rare si...... for studies attempting to identify novel disease genes or causative genetic variants. Improved systems and tools that enhance the collection of phenotype data from clinicians are urgently needed. This meeting begins the HVP's effort towards this important goal....... the impact of genetic variation on disease. To this end, there needs to be a greater sharing of phenotype and genotype data. For this to occur, the many databases that currently exist will need to become interoperable to allow for the combining of cohorts with similar phenotypes to increase statistical power...

  17. A global reference for human genetic variation

    DEFF Research Database (Denmark)

    Auton, Adam; Abecasis, Goncalo R.; M. Altshuler, David

    2015-01-01

    The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals ...

  18. Genetics, Disease Prevention and Treatment

    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 ...

  19. Talking Glossary of Genetic Terms

    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 ...

  20. Recent and projected increases in atmospheric CO2 concentration can enhance gene flow between wild and genetically altered rice (Oryza sativa.

    Directory of Open Access Journals (Sweden)

    Lewis H Ziska

    Full Text Available Although recent and projected increases in atmospheric carbon dioxide can alter plant phenological development, these changes have not been quantified in terms of floral outcrossing rates or gene transfer. Could differential phenological development in response to rising CO(2 between genetically modified crops and wild, weedy relatives increase the spread of novel genes, potentially altering evolutionary fitness? Here we show that increasing CO(2 from an early 20(th century concentration (300 µmol mol(-1 to current (400 µmol mol(-1 and projected, mid-21(st century (600 µmol mol(-1 values, enhanced the flow of genes from wild, weedy rice to the genetically altered, herbicide resistant, cultivated population, with outcrossing increasing from 0.22% to 0.71% from 300 to 600 µmol mol(-1. The increase in outcrossing and gene transfer was associated with differential increases in plant height, as well as greater tiller and panicle production in the wild, relative to the cultivated population. In addition, increasing CO(2 also resulted in a greater synchronicity in flowering times between the two populations. The observed changes reported here resulted in a subsequent increase in rice dedomestication and a greater number of weedy, herbicide-resistant hybrid progeny. Overall, these data suggest that differential phenological responses to rising atmospheric CO(2 could result in enhanced flow of novel genes and greater success of feral plant species in agroecosystems.

  1. Recent and projected increases in atmospheric CO2 concentration can enhance gene flow between wild and genetically altered rice (Oryza sativa).

    Science.gov (United States)

    Ziska, Lewis H; Gealy, David R; Tomecek, Martha B; Jackson, Aaron K; Black, Howard L

    2012-01-01

    Although recent and projected increases in atmospheric carbon dioxide can alter plant phenological development, these changes have not been quantified in terms of floral outcrossing rates or gene transfer. Could differential phenological development in response to rising CO(2) between genetically modified crops and wild, weedy relatives increase the spread of novel genes, potentially altering evolutionary fitness? Here we show that increasing CO(2) from an early 20(th) century concentration (300 µmol mol(-1)) to current (400 µmol mol(-1)) and projected, mid-21(st) century (600 µmol mol(-1)) values, enhanced the flow of genes from wild, weedy rice to the genetically altered, herbicide resistant, cultivated population, with outcrossing increasing from 0.22% to 0.71% from 300 to 600 µmol mol(-1). The increase in outcrossing and gene transfer was associated with differential increases in plant height, as well as greater tiller and panicle production in the wild, relative to the cultivated population. In addition, increasing CO(2) also resulted in a greater synchronicity in flowering times between the two populations. The observed changes reported here resulted in a subsequent increase in rice dedomestication and a greater number of weedy, herbicide-resistant hybrid progeny. Overall, these data suggest that differential phenological responses to rising atmospheric CO(2) could result in enhanced flow of novel genes and greater success of feral plant species in agroecosystems.

  2. Genebanks: a comparison of eight proposed international genetic databases.

    Science.gov (United States)

    Austin, Melissa A; Harding, Sarah; McElroy, Courtney

    2003-01-01

    To identify and compare population-based genetic databases, or "genebanks", that have been proposed in eight international locations between 1998 and 2002. A genebank can be defined as a stored collection of genetic samples in the form of blood or tissue, that can be linked with medical and genealogical or lifestyle information from a specific population, gathered using a process of generalized consent. Genebanks were identified by searching Medline and internet search engines with key words such as "genetic database" and "biobank" and by reviewing literature on previously identified databases such as the deCode project. Collection of genebank characteristics was by an electronic and literature search, augmented by correspondence with informed individuals. The proposed genebanks are located in Iceland, the United Kingdom, Estonia, Latvia, Sweden, Singapore, the Kingdom of Tonga, and Quebec, Canada. Comparisons of the genebanks were based on the following criteria: genebank location and description of purpose, role of government, commercial involvement, consent and confidentiality procedures, opposition to the genebank, and current progress. All of the groups proposing the genebanks plan to search for susceptibility genes for complex diseases while attempting to improve public health and medical care in the region and, in some cases, stimulating the local economy through expansion of the biotechnology sector. While all of the identified plans share these purposes, they differ in many aspects, including funding, subject participation, and organization. The balance of government and commercial involvement in the development of each project varies. Genetic samples and health information will be collected from participants and coded in all of the genebanks, but consent procedures range from presumed consent of the entire eligible population to recruitment of volunteers with informed consent. Issues regarding confidentiality and consent have resulted in opposition to

  3. Integration of population genetic structure and plant response to climate change: sustaining genetic resources through evaluation of projected threats

    Science.gov (United States)

    Bryce A. Richardson; Marcus V. Warwell; Mee-Sook Kim; Ned B. Klopfenstein; Geral I. McDonald

    2010-01-01

    To assess threats or predict responses to disturbances, or both, it is essential to recognize and characterize the population structures of forest species in relation to changing environments. Appropriate management of these genetic resources in the future will require (1) understanding the existing genetic diversity/variation and population structure of forest trees...

  4. Genetic coding and gene expression - new Quadruplet genetic coding model

    Science.gov (United States)

    Shankar Singh, Rama

    2012-07-01

    Successful demonstration of human genome project has opened the door not only for developing personalized medicine and cure for genetic diseases, but it may also answer the complex and difficult question of the origin of life. It may lead to making 21st century, a century of Biological Sciences as well. Based on the central dogma of Biology, genetic codons in conjunction with tRNA play a key role in translating the RNA bases forming sequence of amino acids leading to a synthesized protein. This is the most critical step in synthesizing the right protein needed for personalized medicine and curing genetic diseases. So far, only triplet codons involving three bases of RNA, transcribed from DNA bases, have been used. Since this approach has several inconsistencies and limitations, even the promise of personalized medicine has not been realized. The new Quadruplet genetic coding model proposed and developed here involves all four RNA bases which in conjunction with tRNA will synthesize the right protein. The transcription and translation process used will be the same, but the Quadruplet codons will help overcome most of the inconsistencies and limitations of the triplet codes. Details of this new Quadruplet genetic coding model and its subsequent potential applications including relevance to the origin of life will be presented.

  5. Proinflammatory Status, Genetics and Atherosclerosis

    Czech Academy of Sciences Publication Activity Database

    Poledne, R.; Lorenzová, A.; Stávek, P.; Valenta, Zdeněk; Hubáček, J.; Suchánek, R.; Piťha, J.

    2009-01-01

    Roč. 58, Suppl. 2 (2009), S111-S118 ISSN 0862-8408 R&D Projects: GA MŠk(CZ) 1M06014 Grant - others:GA MŠk(CZ) 1M0510 Program:1M Institutional research plan: CEZ:AV0Z10300504 Keywords : atherosclerosis * inflammation * C-reactive protein * genetics Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.430, year: 2009 http://www.biomed.cas.cz/physiolres/pdf/58%20Suppl%202/58_S111.pdf

  6. Short communication: Genomic selection in a crossbred cattle population using data from the Dairy Genetics East Africa Project.

    Science.gov (United States)

    Brown, A; Ojango, J; Gibson, J; Coffey, M; Okeyo, M; Mrode, R

    2016-09-01

    Due to the absence of accurate pedigree information, it has not been possible to implement genetic evaluations for crossbred cattle in African small-holder systems. Genomic selection techniques that do not rely on pedigree information could, therefore, be a useful alternative. The objective of this study was to examine the feasibility of using genomic selection techniques in a crossbred cattle population using data from Kenya provided by the Dairy Genetics East Africa Project. Genomic estimated breeding values for milk yield were estimated using 2 prediction methods, GBLUP and BayesC, and accuracies were calculated as the correlation between yield deviations and genomic breeding values included in the estimation process, mimicking the situation for young bulls. The accuracy of evaluation ranged from 0.28 to 0.41, depending on the validation population and prediction method used. No significant differences were found in accuracy between the 2 prediction methods. The results suggest that there is potential for implementing genomic selection for young bulls in crossbred small-holder cattle populations, and targeted genotyping and phenotyping should be pursued to facilitate this. Copyright © 2016 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

  7. Genetic diversity and landscape genetic structure of otter (Lutra lutra) populations in Europe

    DEFF Research Database (Denmark)

    Mucci, Nadia; Arrendal, Johanna; Ansorge, Hermann

    2010-01-01

    Eurasian otter populations strongly declined and partially disappeared due to global and local causes (habitat destruction, water pollution, human persecution) in parts of their continental range. Conservation strategies, based on reintroduction projects or restoration of dispersal corridors...... and landscape genetic analyses however indicate that local populations are genetically differentiated, perhaps as consequence of post-glacial demographic fluctuations and recent isolation. These results delineate a framework that should be used for implementing conservation programs in Europe, particularly...

  8. Comparing genetic variants detected in the 1000 genomes project ...

    Indian Academy of Sciences (India)

    2015-12-11

    Dec 11, 2015 ... three key benefits: better diagnoses and earlier interven- tions, more ... research field in human genetics and personalized medicine. Based on the ... to amino acid changes and were found associated with breast .... were common between two datasets or unique SNPs if they were found only in one dataset.

  9. Attitudes towards the Human Genome Project.

    Science.gov (United States)

    Shahroudi, Julie; Shaw, Geraldine

    Attitudes concerning the Human Genome Project were reported by faculty (N=40) and students (N=66) from a liberal arts college. Positive attitudes toward the project involved privacy, insurance and health, economic purposes, reproductive purposes, genetic counseling, religion and overall opinions. Negative attitudes were expressed regarding…

  10. Getting ready for the Human Phenome Project: the 2012 forum of the Human Variome Project.

    Science.gov (United States)

    Oetting, William S; Robinson, Peter N; Greenblatt, Marc S; Cotton, Richard G; Beck, Tim; Carey, John C; Doelken, Sandra C; Girdea, Marta; Groza, Tudor; Hamilton, Carol M; Hamosh, Ada; Kerner, Berit; MacArthur, Jacqueline A L; Maglott, Donna R; Mons, Barend; Rehm, Heidi L; Schofield, Paul N; Searle, Beverly A; Smedley, Damian; Smith, Cynthia L; Bernstein, Inge Thomsen; Zankl, Andreas; Zhao, Eric Y

    2013-04-01

    A forum of the Human Variome Project (HVP) was held as a satellite to the 2012 Annual Meeting of the American Society of Human Genetics in San Francisco, California. The theme of this meeting was "Getting Ready for the Human Phenome Project." Understanding the genetic contribution to both rare single-gene "Mendelian" disorders and more complex common diseases will require integration of research efforts among many fields and better defined phenotypes. The HVP is dedicated to bringing together researchers and research populations throughout the world to provide the resources to investigate the impact of genetic variation on disease. To this end, there needs to be a greater sharing of phenotype and genotype data. For this to occur, many databases that currently exist will need to become interoperable to allow for the combining of cohorts with similar phenotypes to increase statistical power for studies attempting to identify novel disease genes or causative genetic variants. Improved systems and tools that enhance the collection of phenotype data from clinicians are urgently needed. This meeting begins the HVP's effort toward this important goal. © 2013 Wiley Periodicals, Inc.

  11. Nontraditional inheritance: Genetics and the nature of science, now titled, The puzzle of inheritance: Genetics and the methods of science. Final report

    Energy Technology Data Exchange (ETDEWEB)

    McInerney, J.D.

    1998-08-31

    This project led to the development of an instructional module designed for use in high school biology classes. The module contains two major components. The first is an overview for teachers, which introduces the module, describes the Human Genome Project, and addresses issues in the philosophy of science and some of the ethical, legal, and social implications of research in genetics. It provides a survey of fundamental genetics concepts and of new, nontraditional concepts of inheritance. The second component provides six instructional activities appropriate for high school or introductory college students.

  12. Origins of the Human Genome Project

    Science.gov (United States)

    Cook-Deegan, Robert (Affiliation: Institute of Medicine, National Academy of Sciences)

    1993-07-01

    The human genome project was borne of technology, grew into a science bureaucracy in the United States and throughout the world, and is now being transformed into a hybrid academic and commercial enterprise. The next phase of the project promises to veer more sharply toward commercial application, harnessing both the technical prowess of molecular biology and the rapidly growing body of knowledge about DNA structure to the pursuit of practical benefits. Faith that the systematic analysis of DNA structure will prove to be a powerful research tool underlies the rationale behind the genome project. The notion that most genetic information is embedded in the sequence of CNA base pairs comprising chromosomes is a central tenet. A rough analogy is to liken an organism's genetic code to computer code. The coal of the genome project, in this parlance, is to identify and catalog 75,000 or more files (genes) in the software that directs construction of a self-modifying and self-replicating system -- a living organism.

  13. Origins of the Human Genome Project

    Energy Technology Data Exchange (ETDEWEB)

    Cook-Deegan, Robert

    1993-07-01

    The human genome project was borne of technology, grew into a science bureaucracy in the US and throughout the world, and is now being transformed into a hybrid academic and commercial enterprise. The next phase of the project promises to veer more sharply toward commercial application, harnessing both the technical prowess of molecular biology and the rapidly growing body of knowledge about DNA structure to the pursuit of practical benefits. Faith that the systematic analysis of DNA structure will prove to be a powerful research tool underlies the rationale behind the genome project. The notion that most genetic information is embedded in the sequence of CNA base pairs comprising chromosomes is a central tenet. A rough analogy is to liken an organism's genetic code to computer code. The coal of the genome project, in this parlance, is to identify and catalog 75,000 or more files (genes) in the software that directs construction of a self-modifying and self-replicating system -- a living organism.

  14. National human genome projects: an update and an agenda.

    Science.gov (United States)

    An, Joon Yong

    2017-01-01

    Population genetic and human genetic studies are being accelerated with genome technology and data sharing. Accordingly, in the past 10 years, several countries have initiated genetic research using genome technology and identified the genetic architecture of the ethnic groups living in the corresponding country or suggested the genetic foundation of a social phenomenon. Genetic research has been conducted from epidemiological studies that previously described the health or disease conditions in defined population. This perspective summarizes national genome projects conducted in the past 10 years and introduces case studies to utilize genomic data in genetic research.

  15. Space Synthetic Biology Project

    Science.gov (United States)

    Howard, David; Roman, Monsi; Mansell, James (Matt)

    2015-01-01

    Synthetic biology is an effort to make genetic engineering more useful by standardizing sections of genetic code. By standardizing genetic components, biological engineering will become much more similar to traditional fields of engineering, in which well-defined components and subsystems are readily available in markets. Specifications of the behavior of those components and subsystems can be used to model a system which incorporates them. Then, the behavior of the novel system can be simulated and optimized. Finally, the components and subsystems can be purchased and assembled to create the optimized system, which most often will exhibit behavior similar to that indicated by the model. The Space Synthetic Biology project began in 2012 as a multi-Center effort. The purpose of this project was to harness Synthetic Biology principals to enable NASA's missions. A central target for application was to Environmental Control & Life Support (ECLS). Engineers from NASA Marshall Space Flight Center's (MSFC's) ECLS Systems Development Branch (ES62) were brought into the project to contribute expertise in operational ECLS systems. Project lead scientists chose to pursue the development of bioelectrochemical technologies to spacecraft life support. Therefore, the ECLS element of the project became essentially an effort to develop a bioelectrochemical ECLS subsystem. Bioelectrochemical systems exploit the ability of many microorganisms to drive their metabolisms by direct or indirect utilization of electrical potential gradients. Whereas many microorganisms are capable of deriving the energy required for the processes of interest (such as carbon dioxide (CO2) fixation) from sunlight, it is believed that subsystems utilizing electrotrophs will exhibit smaller mass, volume, and power requirements than those that derive their energy from sunlight. In the first 2 years of the project, MSFC personnel conducted modeling, simulation, and conceptual design efforts to assist the

  16. Study on genetic diversity of some Iranian Pistachio (Pistacia vera L ...

    African Journals Online (AJOL)

    hope&shola

    2010-11-08

    Nov 8, 2010 ... Keywords: Pistacia vera, genetic diversity, clustering, population parameters. .... used to detect DNA polymorphism and genetic diversity in ..... Project on Underutilized ... 2nd. nat. symp. of cellular and molecular biology.

  17. Genetic effects

    International Nuclear Information System (INIS)

    Abrahamson, S.; Bender, M.; Denniston, C.; Schull, W.

    1985-01-01

    Modeling analyses are used to predict the outcomes for two nuclear power plant accident scenarios, the first in which the population received a chronic dose of 0.1 Gy (10 rad) over a 50 year period, the second in which an equivalent population receives acute dose of 2 Gy. In both cases the analyses are projected over a period of five generations. The risk analysis takes on two major forms: the increase in genetic disease that would be observed in the immediate offspring of the exposed population, and the subsequent transmission of the newly induced mutations through future generations. The classes of genetic diseases studied are: dominant gene mutation, X-linked gene mutation, chromosome disorders and multifactorial disorders which involve the interaction of many mutant genes and environmental factors. 28 references, 3 figures, 5 tables

  18. Initiating a Human Variome Project Country Node.

    Science.gov (United States)

    AlAama, Jumana; Smith, Timothy D; Lo, Alan; Howard, Heather; Kline, Alexandria A; Lange, Matthew; Kaput, Jim; Cotton, Richard G H

    2011-05-01

    Genetic diseases are a pressing global health problem that requires comprehensive access to basic clinical and genetic data to counter. The creation of regional and international databases that can be easily accessed by clinicians and diagnostic labs will greatly improve our ability to accurately diagnose and treat patients with genetic disorders. The Human Variome Project is currently working in conjunction with human genetics societies to achieve this by establishing systems to collect every mutation reported by a diagnostic laboratory, clinic, or research laboratory in a country and store these within a national repository, or HVP Country Node. Nodes have already been initiated in Australia, Belgium, China, Egypt, Malaysia, and Kuwait. Each is examining how to systematically collect and share genetic, clinical, and biochemical information in a country-specific manner that is sensitive to local ethical and cultural issues. This article gathers cases of genetic data collection within countries and takes recommendations from the global community to develop a procedure for countries wishing to establish their own collection system as part of the Human Variome Project. We hope this may lead to standard practices to facilitate global collection of data and allow efficient use in clinical practice, research and therapy. © 2011 Wiley-Liss, Inc.

  19. The GenoChip: A New Tool for Genetic Anthropology

    Science.gov (United States)

    Elhaik, Eran; Greenspan, Elliott; Staats, Sean; Krahn, Thomas; Tyler-Smith, Chris; Xue, Yali; Tofanelli, Sergio; Francalacci, Paolo; Cucca, Francesco; Pagani, Luca; Jin, Li; Li, Hui; Schurr, Theodore G.; Greenspan, Bennett; Spencer Wells, R.

    2013-01-01

    The Genographic Project is an international effort aimed at charting human migratory history. The project is nonprofit and nonmedical, and, through its Legacy Fund, supports locally led efforts to preserve indigenous and traditional cultures. Although the first phase of the project was focused on uniparentally inherited markers on the Y-chromosome and mitochondrial DNA (mtDNA), the current phase focuses on markers from across the entire genome to obtain a more complete understanding of human genetic variation. Although many commercial arrays exist for genome-wide single-nucleotide polymorphism (SNP) genotyping, they were designed for medical genetic studies and contain medically related markers that are inappropriate for global population genetic studies. GenoChip, the Genographic Project’s new genotyping array, was designed to resolve these issues and enable higher resolution research into outstanding questions in genetic anthropology. The GenoChip includes ancestry informative markers obtained for over 450 human populations, an ancient human (Saqqaq), and two archaic hominins (Neanderthal and Denisovan) and was designed to identify all known Y-chromosome and mtDNA haplogroups. The chip was carefully vetted to avoid inclusion of medically relevant markers. To demonstrate its capabilities, we compared the FST distributions of GenoChip SNPs to those of two commercial arrays. Although all arrays yielded similarly shaped (inverse J) FST distributions, the GenoChip autosomal and X-chromosomal distributions had the highest mean FST, attesting to its ability to discern subpopulations. The chip performances are illustrated in a principal component analysis for 14 worldwide populations. In summary, the GenoChip is a dedicated genotyping platform for genetic anthropology. With an unprecedented number of approximately 12,000 Y-chromosomal and approximately 3,300 mtDNA SNPs and over 130,000 autosomal and X-chromosomal SNPs without any known health, medical, or phenotypic

  20. Human Genetics of Diabetic Retinopathy: Current Perspectives

    Directory of Open Access Journals (Sweden)

    Daniel P. K. Ng

    2010-01-01

    Full Text Available Diabetic retinopathy (DR is a most severe microvascular complication which, if left unchecked, can be sight-threatening. With the global prevalence of diabetes being relentlessly projected to rise to 438 million subjects by 2030, DR will undoubtedly pose a major public health concern. Efforts to unravel the human genetics of DR have been undertaken using the candidate gene and linkage approaches, while GWAS efforts are still lacking. Aside from evidence for a few genes including aldose reductase and vascular endothelial growth factor, the genetics of DR remain poorly elucidated. Nevertheless, the promise of impactful scientific discoveries may be realized if concerted and collaborative efforts are mounted to identify the genes for DR. Harnessing new genetic technologies and resources such as the upcoming 1000 Genomes Project will help advance this field of research, and potentially lead to a rich harvest of insights into the biological mechanisms underlying this debilitating complication.

  1. Frequently Asked Questions about Genetic Testing

    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 ...

  2. Creation and Implementation of an Environmental Scan to Assess Cancer Genetics Services at Three Oncology Care Settings.

    Science.gov (United States)

    Bednar, Erica M; Walsh, Michael T; Baker, Ellen; Muse, Kimberly I; Oakley, Holly D; Krukenberg, Rebekah C; Dresbold, Cara S; Jenkinson, Sandra B; Eppolito, Amanda L; Teed, Kelly B; Klein, Molly H; Morman, Nichole A; Bowdish, Elizabeth C; Russ, Pauline; Wise, Emaline E; Cooper, Julia N; Method, Michael W; Henson, John W; Grainger, Andrew V; Arun, Banu K; Lu, Karen H

    2018-05-16

    An environmental scan (ES) is an efficient mixed-methods approach to collect and interpret relevant data for strategic planning and project design. To date, the ES has not been used nor evaluated in the clinical cancer genetics setting. We created and implemented an ES to inform the design of a quality improvement (QI) project to increase the rates of adherence to national guidelines for cancer genetic counseling and genetic testing at three unique oncology care settings (OCS). The ES collected qualitative and quantitative data from reviews of internal processes, past QI efforts, the literature, and each OCS. The ES used a data collection form and semi-structured interviews to aid in data collection. The ES was completed within 6 months, and sufficient data were captured to identify opportunities and threats to the QI project's success, as well as potential barriers to, and facilitators of guideline-based cancer genetics services at each OCS. Previously unreported barriers were identified, including inefficient genetic counseling appointment scheduling processes and the inability to track referrals, genetics appointments, and genetic test results within electronic medical record systems. The ES was a valuable process for QI project planning at three OCS and may be used to evaluate genetics services in other settings.

  3. Plant breeding and genetics newsletter. No. 3

    International Nuclear Information System (INIS)

    1999-06-01

    This third issue of the Plant Breeding and Genetics Newsletter highlights forthcoming events including regional (Afra) training course on 'molecular characterization of genetic biodiversity in traditional and neglected crops selected for improvement through mutation techniques' and seminar on 'mutation techniques and biotechnology for tropical and subtropical plant improvement in Asia and Pacific regions'. Status of existing co-ordinated and technical co-operation research projects is also summarized

  4. Integrated genetic analysis microsystems

    International Nuclear Information System (INIS)

    Lagally, Eric T; Mathies, Richard A

    2004-01-01

    With the completion of the Human Genome Project and the ongoing DNA sequencing of the genomes of other animals, bacteria, plants and others, a wealth of new information about the genetic composition of organisms has become available. However, as the demand for sequence information grows, so does the workload required both to generate this sequence and to use it for targeted genetic analysis. Microfabricated genetic analysis systems are well poised to assist in the collection and use of these data through increased analysis speed, lower analysis cost and higher parallelism leading to increased assay throughput. In addition, such integrated microsystems may point the way to targeted genetic experiments on single cells and in other areas that are otherwise very difficult. Concomitant with these advantages, such systems, when fully integrated, should be capable of forming portable systems for high-speed in situ analyses, enabling a new standard in disciplines such as clinical chemistry, forensics, biowarfare detection and epidemiology. This review will discuss the various technologies available for genetic analysis on the microscale, and efforts to integrate them to form fully functional robust analysis devices. (topical review)

  5. Human genetic issues from scientific and Islamic perspectives | Alwi ...

    African Journals Online (AJOL)

    This paper aims at revealing the Human Genome Project (HGP) and human genetic issues arising from science and Islamic perspectives such as Darwin's evolutionary theory, human cloning and eugenics. Finally, issues arising from the applications of human genetic technology need to be addressed to the best possible ...

  6. Personalized medicine and access to genetic technologies.

    Science.gov (United States)

    den Exter, André

    2010-01-01

    Personalized medicine started after the Human Genome Project and is a relatively new concept that will dramatically change clinical practice. It offers clear clinical advantages by applying genetic diagnostic tests and then treating the patient with targeted medicines based on his or her genetic make-up. Its potential seems promising but there are quite a few legal concerns. One of these questions deals with the right to health care and access to genetic technologies. In this paper, the author explains the meaning of such a right to health care under international human rights law, its relevance for making genetic services eligible for public funding, how to cope with quality concerns of commercial testing, and finally, the patentability controversy and clinical access to genetic information. Apart from more traditional human rights concerns (consent, privacy, confidentiality) and genetics, States should be aware of the meaning of the equal access concept under international law and its consequences when introducing new technologies such genetic testing and services.

  7. Systems genetic analysis of brown adipose tissue function

    Czech Academy of Sciences Publication Activity Database

    Pravenec, Michal; Saba, L. M.; Zídek, Václav; Landa, Vladimír; Mlejnek, Petr; Šilhavý, Jan; Šimáková, Miroslava; Strnad, Hynek; Trnovská, J.; Škop, V.; Hüttl, M.; Marková, I.; Oliyarnyk, O.; Malínská, H.; Kazdová, L.; Smith, H.; Tabakoff, B.

    2018-01-01

    Roč. 50, č. 1 (2018), s. 52-66 ISSN 1094-8341 R&D Projects: GA ČR(CZ) GA13-04420S Institutional support: RVO:67985823 Keywords : brown adipose tissue * coexpression modules * quantitative trait locus * recombinant inbred strains * spontaneously hypertensive rat Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Human genetics Impact factor: 3.044, year: 2016

  8. Epilepsy genetics: clinical beginnings and social consequences.

    Science.gov (United States)

    Johnston, J A; Rees, M I; Smith, P E M

    2009-07-01

    The approach to epilepsy care has transformed in the last 30 years, with more and better anti-epileptic medications, improved cerebral imaging and increased surgical options. Alongside this, developments in neuroscience and molecular genetics have furthered the understanding of epileptogenesis. Future developments in pharmacogenomics hold the promise of antiepileptic drugs matched to specific genotypes. Despite this rapid progress, one-third of epilepsy patients remain refractory to medication, with their seizures impacting upon day-to-day activity, social well-being, independence, economic output and quality of life. International genome collaborations, such as HapMap and the Welcome Trust Case-Control Consortium single nucleotide polymorphism (SNP) mapping project have identified common genetic variations in diseases of major public health importance. Such genetic signposts should help to identify at-risk populations with a view to producing more effective pharmaceutical treatments. Neurological disorders, despite comprising one-fifth of UK acute medical hospital admissions, are surprisingly under-represented in these projects. Epilepsy is the commonest serious neurological disorder worldwide. Although physically, psychologically, socially and financially disabling, it rarely receives deserved attention from physicians, scientists and governmental bodies. As outlined in this article, research into epilepsy genetics presents unique challenges. These help to explain why the identification of its complex genetic traits has lagged well behind other disciplines, particularly the efforts made in neuropsychiatric disorders. Clinical beginnings must underpin any genetic understanding in epilepsy. Success in identifying genetic traits in other disorders does not make the automatic case for genome-wide screening in epilepsy, but such is a desired goal. The essential clinical approach of accurately phenotyping, diagnosing and interpreting the dynamic nature of epilepsy

  9. A haplotype regression approach for genetic evaluation using sequences from the 1000 bull genomes Project

    International Nuclear Information System (INIS)

    Lakhssassi, K.; González-Recio, O.

    2017-01-01

    Haplotypes from sequencing data may improve the prediction accuracy in genomic evaluations as haplotypes are in stronger linkage disequilibrium with quantitative trait loci than markers from SNP chips. This study focuses first, on the creation of haplotypes in a population sample of 450 Holstein animals, with full-sequence data from the 1000 bull genomes project; and second, on incorporating them into the whole genome prediction model. In total, 38,319,258 SNPs (and indels) from Next Generation Sequencing were included in the analysis. After filtering variants with minor allele frequency (MAF< 0.025) 13,912,326 SNPs were available for the haplotypes extraction with findhap.f90. The number of SNPs in the haploblocks was on average 924 SNP (166,552 bp). Unique haplotypes were around 97% in all chromosomes and were ignored leaving 153,428 haplotypes. Estimated haplotypes had a large contribution to the total variance of genomic estimated breeding values for kilogram of protein, Global Type Index, Somatic Cell Score and Days Open (between 32 and 99.9%). Haploblocks containing haplotypes with large effects were selected by filtering for each trait, haplotypes whose effect was larger/lower than the mean plus/minus 3 times the standard deviation (SD) and 1 SD above the mean of the haplotypes effect distribution. Results showed that filtering by 3 SD would not be enough to capture a large proportion of genetic variance, whereas filtering by 1 SD could be useful but model convergence should be considered. Additionally, sequence haplotypes were able to capture additional genetic variance to the polygenic effect for traits undergoing lower selection intensity like fertility and health traits.

  10. A haplotype regression approach for genetic evaluation using sequences from the 1000 bull genomes Project

    Energy Technology Data Exchange (ETDEWEB)

    Lakhssassi, K.; González-Recio, O.

    2017-07-01

    Haplotypes from sequencing data may improve the prediction accuracy in genomic evaluations as haplotypes are in stronger linkage disequilibrium with quantitative trait loci than markers from SNP chips. This study focuses first, on the creation of haplotypes in a population sample of 450 Holstein animals, with full-sequence data from the 1000 bull genomes project; and second, on incorporating them into the whole genome prediction model. In total, 38,319,258 SNPs (and indels) from Next Generation Sequencing were included in the analysis. After filtering variants with minor allele frequency (MAF< 0.025) 13,912,326 SNPs were available for the haplotypes extraction with findhap.f90. The number of SNPs in the haploblocks was on average 924 SNP (166,552 bp). Unique haplotypes were around 97% in all chromosomes and were ignored leaving 153,428 haplotypes. Estimated haplotypes had a large contribution to the total variance of genomic estimated breeding values for kilogram of protein, Global Type Index, Somatic Cell Score and Days Open (between 32 and 99.9%). Haploblocks containing haplotypes with large effects were selected by filtering for each trait, haplotypes whose effect was larger/lower than the mean plus/minus 3 times the standard deviation (SD) and 1 SD above the mean of the haplotypes effect distribution. Results showed that filtering by 3 SD would not be enough to capture a large proportion of genetic variance, whereas filtering by 1 SD could be useful but model convergence should be considered. Additionally, sequence haplotypes were able to capture additional genetic variance to the polygenic effect for traits undergoing lower selection intensity like fertility and health traits.

  11. Find the weakest link. A comparison between demographic, genetic and demo-genetic metapopulation extinction times

    Directory of Open Access Journals (Sweden)

    Robert Alexandre

    2011-09-01

    Full Text Available Abstract Background While the ultimate causes of most species extinctions are environmental, environmental constraints have various secondary consequences on evolutionary and ecological processes. The roles of demographic, genetic mechanisms and their interactions in limiting the viabilities of species or populations have stirred much debate and remain difficult to evaluate in the absence of demography-genetics conceptual and technical framework. Here, I computed projected times to metapopulation extinction using (1 a model focusing on the effects of species properties, habitat quality, quantity and temporal variability on the time to demographic extinction; (2 a genetic model focusing on the dynamics of the drift and inbreeding loads under the same species and habitat constraints; (3 a demo-genetic model accounting for demographic-genetic processes and feedbacks. Results Results indicate that a given population may have a high demographic, but low genetic viability or vice versa; and whether genetic or demographic aspects will be the most limiting to overall viability depends on the constraints faced by the species (e.g., reduction of habitat quantity or quality. As a consequence, depending on metapopulation or species characteristics, incorporating genetic considerations to demographically-based viability assessments may either moderately or severely reduce the persistence time. On the other hand, purely genetically-based estimates of species viability may either underestimate (by neglecting demo-genetic interactions or overestimate (by neglecting the demographic resilience true viability. Conclusion Unbiased assessments of the viabilities of species may only be obtained by identifying and considering the most limiting processes (i.e., demography or genetics, or, preferentially, by integrating them.

  12. Global Characterization of Genetic Variation by Using High-Throughput Technologies

    DEFF Research Database (Denmark)

    Zhan, Bujie

    . This projekt aimed to characterize large scale of genetic vaiations in complex genomes by applying hig-throughput technologies and bioinformatic approache4s, to help investigate genetic foundation of disease susceptibility and product traits in livestock species. This PhD project provide a comprehensive sight...

  13. The Genetics of Biofuel Traits in Panicum Grasses: Developing a Model System with Diploid Panicum Hallii

    Energy Technology Data Exchange (ETDEWEB)

    Juenger, Thomas [Univ. of Texas, Austin, TX (United States). Dept. of Integrative Biology; Wolfrum, Ed [National Renewable Energy Lab. (NREL), Golden, CO (United States)

    2016-07-31

    Our DOE funded project focused on characterizing natural variation in C4 perennial grasses including switchgrass (Panicum virgatum) and Hall’s panicgrass (Panicum hallii). The main theme of our project was to better understand traits linked with plant performance and that impact the utility of plant biomass as a biofuel feedstock. In addition, our project developed tools and resources for studying genetic variation in Panicum hallii. Our project successfully screened both Panicum virgatum and Panicum hallii diverse natural collections for a host of phenotypes, developed genetic mapping populations for both species, completed genetic mapping for biofuel related traits, and helped in the development of genomic resources of Panicum hallii. Together, these studies have improved our understanding of the role of genetic and environmental factors in impacting plant performance. This information, along with new tools, will help foster the improvement of perennial grasses for feedstock applications.

  14. Genetic algorithms at UC Davis/LLNL

    Energy Technology Data Exchange (ETDEWEB)

    Vemuri, V.R. [comp.

    1993-12-31

    A tutorial introduction to genetic algorithms is given. This brief tutorial should serve the purpose of introducing the subject to the novice. The tutorial is followed by a brief commentary on the term project reports that follow.

  15. Human Genome Project

    Energy Technology Data Exchange (ETDEWEB)

    Block, S. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Cornwall, J. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Dally, W. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Dyson, F. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Fortson, N. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Joyce, G. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Kimble, H. J. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Lewis, N. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Max, C. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Prince, T. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Schwitters, R. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Weinberger, P. [The MITRE Corporation, McLean, VA (US). JASON Program Office; Woodin, W. H. [The MITRE Corporation, McLean, VA (US). JASON Program Office

    1998-01-04

    The study reviews Department of Energy supported aspects of the United States Human Genome Project, the joint National Institutes of Health/Department of Energy program to characterize all human genetic material, to discover the set of human genes, and to render them accessible for further biological study. The study concentrates on issues of technology, quality assurance/control, and informatics relevant to current effort on the genome project and needs beyond it. Recommendations are presented on areas of the genome program that are of particular interest to and supported by the Department of Energy.

  16. The McGill Interactive Pediatric OncoGenetic Guidelines: An approach to identifying pediatric oncology patients most likely to benefit from a genetic evaluation.

    Science.gov (United States)

    Goudie, Catherine; Coltin, Hallie; Witkowski, Leora; Mourad, Stephanie; Malkin, David; Foulkes, William D

    2017-08-01

    Identifying cancer predisposition syndromes in children with tumors is crucial, yet few clinical guidelines exist to identify children at high risk of having germline mutations. The McGill Interactive Pediatric OncoGenetic Guidelines project aims to create a validated pediatric guideline in the form of a smartphone/tablet application using algorithms to process clinical data and help determine whether to refer a child for genetic assessment. This paper discusses the initial stages of the project, focusing on its overall structure, the methodology underpinning the algorithms, and the upcoming algorithm validation process. © 2017 Wiley Periodicals, Inc.

  17. Gene disruptions using P transposable elements: an integral component of the Drosophila genome project.

    OpenAIRE

    Spradling, A C; Stern, D M; Kiss, I; Roote, J; Laverty, T; Rubin, G M

    1995-01-01

    Biologists require genetic as well as molecular tools to decipher genomic information and ultimately to understand gene function. The Berkeley Drosophila Genome Project is addressing these needs with a massive gene disruption project that uses individual, genetically engineered P transposable elements to target open reading frames throughout the Drosophila genome. DNA flanking the insertions is sequenced, thereby placing an extensive series of genetic markers on the physical genomic map and a...

  18. Scheduling projects with multiskill learning effect.

    Science.gov (United States)

    Zha, Hong; Zhang, Lianying

    2014-01-01

    We investigate the project scheduling problem with multiskill learning effect. A new model is proposed to deal with the problem, where both autonomous and induced learning are considered. In order to obtain the optimal solution, a genetic algorithm with specific encoding and decoding schemes is introduced. A numerical example is used to illustrate the proposed model. The computational results show that the learning effect cannot be neglected in project scheduling. By means of determining the level of induced learning, the project manager can balance the project makespan with total cost.

  19. Integrated analysis of genetic data with R

    Directory of Open Access Journals (Sweden)

    Zhao Jing

    2006-01-01

    Full Text Available Abstract Genetic data are now widely available. There is, however, an apparent lack of concerted effort to produce software systems for statistical analysis of genetic data compared with other fields of statistics. It is often a tremendous task for end-users to tailor them for particular data, especially when genetic data are analysed in conjunction with a large number of covariates. Here, R http://www.r-project.org, a free, flexible and platform-independent environment for statistical modelling and graphics is explored as an integrated system for genetic data analysis. An overview of some packages currently available for analysis of genetic data is given. This is followed by examples of package development and practical applications. With clear advantages in data management, graphics, statistical analysis, programming, internet capability and use of available codes, it is a feasible, although challenging, task to develop it into an integrated platform for genetic analysis; this will require the joint efforts of many researchers.

  20. 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

  1. Conventional radiology and genetic dose

    International Nuclear Information System (INIS)

    Gonzalez-Vila, V.; Fernandez, A.; Rivera, F.; Martinez, M.; Gomez, A.; Luis, J.

    1992-01-01

    A research project was established in 1984 to evaluate the expected genetic abnormalities due to radiation received by the population attending the Outpatient Radiological Service due to medical radiological practices. The study was conducted in 1985 (12 weeks chosen by random). The equivalent gonadal dose was the chosen parameter, representing the social cost of the radiology. Samples of 2945 men and 2929 women were considered in the study. The number of genetic abnormalities, in relation to the mean age of reproduction (a generation every 30 years), was 2.13 cases per million in the first generation and 15.97 cases per million at equilibrium. The authors interpretation is that both the method and the expected genetic detriment are suitable procedures for the characterisation of the Radiological Service as a radiation source. (author)

  2. Assessing the genetic diversity of cultivars and wild soybeans using ...

    African Journals Online (AJOL)

    USER

    2010-08-02

    Aug 2, 2010 ... The average genetic diversity index of wild soybeans and landraces was 1.5421 and ... genetic identity (0.5265) and gene flow (1.8338) between wild soybeans and cultivars ..... The project was financed by the National Natural Science .... Biology and Biotechnology Centre, University of Alberta, Alberta.

  3. Art meets science: The Cosmopolitan Chicken Research Project.

    Science.gov (United States)

    Stinckens, A; Vereijken, A; Ons, E; Konings, P; Van As, P; Cuppens, H; Moreau, Y; Sakai, R; Aerts, J; Goddeeris, B; Buys, N; Vanmechelen, K; Cassiman, J J

    2015-01-01

    The Cosmopolitan Chicken Project is an artistic undertaking of renowned artist Koen Vanmechelen. In this project, the artist interbreeds domestic chickens from different countries aiming at the creation of a true Cosmopolitan Chicken as a symbol for global diversity. The unifying theme is the chicken and the egg, symbols that link scientific, political, philosophical and ethical issues. The Cosmopolitan Chicken Research Project is the scientific component of this artwork. Based on state of the art genomic techniques, the project studies the effect of the crossing of chickens on the genetic diversity. Also, this research is potentially applicable to the human population. The setup of the CC®P is quite different from traditional breeding experiments: starting from the crossbreed of two purebred chickens (Mechelse Koekoek x Poule de Bresse), every generation is crossed with a few animals from another breed. For 26 of these purebred and crossbred populations, genetic diversity was measured (1) under the assumption that populations were sufficiently large to maintain all informative SNP within a generation and (2) under the circumstances of the CCP breeding experiment. Under the first assumption, a steady increase in genetic diversity was witnessed over the consecutive generations, thus indeed indicating the creation of a "Cosmopolitan Chicken Genome". However, under the conditions of the CCP, which reflects the reality within the human population, diversity is seen to fluctuate within given boundaries instead of steadily increasing. A reflection on this might be that this is because, in humans, an evolutionary optimum in genetic diversity is reached. Key words.

  4. Primer on molecular genetics. DOE Human Genome Program

    Energy Technology Data Exchange (ETDEWEB)

    1992-04-01

    This report is taken from the April 1992 draft of the DOE Human Genome 1991--1992 Program Report, which is expected to be published in May 1992. The primer is intended to be an introduction to basic principles of molecular genetics pertaining to the genome project. The material contained herein is not final and may be incomplete. Techniques of genetic mapping and DNA sequencing are described.

  5. Human Genome Project discoveries: Dialectics and rhetoric in the science of genetics

    Science.gov (United States)

    Robidoux, Charlotte A.

    The Human Genome Project (HGP), a $437 million effort that began in 1990 to chart the chemical sequence of our three billion base pairs of DNA, was completed in 2003, marking the 50th anniversary that proved the definitive structure of the molecule. This study considered how dialectical and rhetorical arguments functioned in the science, political, and public forums over a 20-year period, from 1980 to 2000, to advance human genome research and to establish the official project. I argue that Aristotle's continuum of knowledge--which ranges from the probable on one end to certified or demonstrated knowledge on the other--provides useful distinctions for analyzing scientific reasoning. While contemporary scientific research seeks to discover certified knowledge, investigators generally employ the hypothetico-deductive or scientific method, which often yields probable rather than certain findings, making these dialectical in nature. Analysis of the discourse describing human genome research revealed the use of numerous rhetorical figures and topics. Persuasive and probable reasoning were necessary for scientists to characterize unknown genetic phenomena, to secure interest in and funding for large-scale human genome research, to solve scientific problems, to issue probable findings, to convince colleagues and government officials that the findings were sound and to disseminate information to the public. Both government and private venture scientists drew on these tools of reasoning to promote their methods of mapping and sequencing the genome. The debate over how to carry out sequencing was rooted in conflicting values. Scientists representing the academic tradition valued a more conservative method that would establish high quality results, and those supporting private industry valued an unconventional approach that would yield products and profits more quickly. Values in turn influenced political and public forum arguments. Agency representatives and investors sided

  6. Genetic Regulation in the Aiptasia pallida Symbiosis - Performance Report, Year 1

    National Research Council Canada - National Science Library

    Tomb, Jean-Francois

    1997-01-01

    This report describes the progress of the project 'Genetic Regulation in A. pallida Symbiosis'. The main goal of the project in year 1 was to identify sequence tags for differentially expressed genes using the SAGE approach...

  7. An integrated map of genetic variation from 1.092 human genomes

    DEFF Research Database (Denmark)

    Abecasis, Goncalo R.; Auton, Adam; Brooks, Lisa D.

    2012-01-01

    By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination ...

  8. Animal Botulism Outcomes in the AniBioThreat Project

    DEFF Research Database (Denmark)

    Woudstra, Cédric; Tevell Åberg, Annica; Skarin, Hanna

    2013-01-01

    and botulinum neurotoxins are considered potential weapons for bioterrorism and have been included in the Australia Group List of Biological Agents. In 2010 the European Commission (DG Justice, Freedom and Security) funded a 3-year project named AniBioThreat to improve the EU's capacity to counter animal...... new genetic information to better understand the diversity of these Clostridia and develop detection methods targeting both highly specific genetic markers of these Clostridia and the neurotoxins they are able to produce. Several European institutes participating in the AniBioThreat project...

  9. Broadening soybean genetic basis in the northeast of China

    Institute of Scientific and Technical Information of China (English)

    WangJinling

    1994-01-01

    The bottle neek of advancement of soybean breeding inthe Northeast of China is the lack of genetic diversity of the parents used in cross breeding.In order to overcome this constrained condition,under the sponsorship of China National Committe of Natural Science Fundation,a network project with the topic"Broadening and Improving of the Genetic Basis of the Northeast Soybeans" was established in 1990,and the Northeast agricultural University was apointed to take charge of the project.The project included the following four items:I.Breeding high yield and improved quality Northeast Soybeans,directed by Hcilongjiang Academy of Agricultural Sciencee .II.Development of new soybean gerplasms highly resistant to diseases epidemic in Northeast China directed by Northeast Agricultural University.Ⅲ.Exploitation of the potential of wild and semicultivated soybeans for broadening and improving the genetic basis of Northeast soybeans,directed by Jilin Academy of Agricultural Science.Ⅳ.Improving methods and technique for development of new soybean genetic resources.directed by Nanjing Agricultural University .Each item contained several research subjects conducted by research workers of different institutes of agricultural sicences.During the period 1991-1992.considerable promising new germplasms had been discovered or developed.The new germplasms not only possessed specific improved characters but also behaved with appropriate ecological types adapted to different conditions of Northeast.Among the numerous new germplasms developed.Gong Jio 8757-3 had a protein content of 49.41%,100 seed weight 16-17g,and acceptable agronomic characters,which was considered a very valuable new high protein content germplasm.Such developed new germplasma with enforced and imprved genetic basis will be used primarily as parents in soybean cross breeding.

  10. Evolution of Genetic Techniques: Past, Present, and Beyond

    Directory of Open Access Journals (Sweden)

    Asude Alpman Durmaz

    2015-01-01

    Full Text Available Genetics is the study of heredity, which means the study of genes and factors related to all aspects of genes. The scientific history of genetics began with the works of Gregor Mendel in the mid-19th century. Prior to Mendel, genetics was primarily theoretical whilst, after Mendel, the science of genetics was broadened to include experimental genetics. Developments in all fields of genetics and genetic technology in the first half of the 20th century provided a basis for the later developments. In the second half of the 20th century, the molecular background of genetics has become more understandable. Rapid technological advancements, followed by the completion of Human Genome Project, have contributed a great deal to the knowledge of genetic factors and their impact on human life and diseases. Currently, more than 1800 disease genes have been identified, more than 2000 genetic tests have become available, and in conjunction with this at least 350 biotechnology-based products have been released onto the market. Novel technologies, particularly next generation sequencing, have dramatically accelerated the pace of biological research, while at the same time increasing expectations. In this paper, a brief summary of genetic history with short explanations of most popular genetic techniques is given.

  11. The Puzzle of Inheritance: Genetics and the Methods of Science.

    Science.gov (United States)

    Cutter, Mary Ann G.; Drexler, Edward; Friedman, B. Ellen; McCullough, Laurence B.; McInerney, Joseph D.; Murray, Jeffrey C.; Rossiter, Belinda; Zola, John

    This instructional module contains a description of the Human Genome Project (HGP). A discussion of issues in the philosophy of science and some of the ethical, legal, and social implications of research in genetics, and a survey of fundamental genetics concepts and of new, nontraditional concepts of inheritance are also included. Six…

  12. Journal of Genetics | Indian Academy of Sciences

    Indian Academy of Sciences (India)

    Gene structure of Drosophila diaphorase-1: diversity of transcripts in adult males and ... Q9W529) from Berkeley Drosophila Genome Project (BDGP) was found ... Sofia University St Kliment Ohridski, Faculty of Biology, Department of Genetics, ...

  13. Genetically engineered dendritic cell-based cancer vaccines

    Czech Academy of Sciences Publication Activity Database

    Bubeník, Jan

    2001-01-01

    Roč. 18, č. 3 (2001), s. 475-478 ISSN 1019-6439 R&D Projects: GA MZd NC5526 Keywords : dendritic cell s * tumour vaccines Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.330, year: 2001

  14. Genetically modified dendritic cell-based cancer vaccines

    Czech Academy of Sciences Publication Activity Database

    Bubeník, Jan

    2001-01-01

    Roč. 47, č. 5 (2001), s. 153-155 ISSN 0015-5500 R&D Projects: GA MZd NC5526 Keywords : dendritic cell s * cancer vaccines Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 0.519, year: 2001

  15. Genetic effects

    International Nuclear Information System (INIS)

    Bender, M.A.; Abrahamson, S.; Denniston, C.; Schull, W.J.

    1989-01-01

    In this chapter, we present a comprehensive analysis of the major classes of genetic diseases that would be increased as a result of an increased gonadal radiation exposure to a human population. The risk analysis takes on two major forms: the increase in genetic disease that would be observed in the immediate offspring of the exposed population, and the subsequent transmission of the newly induced mutations through future generations. The major classes of genetic disease will be induced at different frequencies, and will also impact differentially in terms of survivability and fertility on the affected individuals and their descendants. Some classes of disease will be expected to persist for only a few generations at most. Other types of genetic disease will persist through a longer period. The classes of genetic diseases studied are: dominant gene mutation, X-linked gene mutation, chromosome disorders and multifactorial disorders which involve the interaction of many mutant genes and environmental factors. For each of these classes we have derived the general equations of mutation induction for the male and female germ cells of critical importance in the mutation process. The frequency of induced mutations will be determined initially by the dose received, the type of radiation and, to some extent at high dose, by the manner in which the dose is received. We have used the modeling analyses to predict the outcomes for two nuclear power plant accident scenarios, the first in which the population receives a chronic dose of 0.1 Gy (10 rad) over a 50-year period, the second in which an equivalent population receives an acute dose of 2 Gy. In both cases the analyses are projected over a period of five generations

  16. 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...

  17. Somatic point mutations in mtDNA control region are influenced by genetic background and associated with healthy aging: a GEHA study

    DEFF Research Database (Denmark)

    Rose, Giuseppina; Romeo, Giuseppe; Dato, Serena

    2010-01-01

    and of mortality risk in the elderly. Our study provides new evidence on the relevance of mtDNA somatic mutations in aging and longevity and confirms that the occurrence of specific point mutations in the mtDNA control region may represent a strategy for the age-related remodelling of organismal functions....

  18. EUROFANCOLEN Project; El Proyecto EUROFANCOLEN

    Energy Technology Data Exchange (ETDEWEB)

    Bueren, J. A.

    2014-07-01

    The first follow-up report of European Project EUROFANCOLEN, the purpose of which is to develop a gene therapy clinical trial to resolve bone marrow failure in patients with a genetic disease known as Fanconi anemia (FA), was sent to the European Commission in September. The main objective of project EUROFANCOLEN is to develop a gene therapy trial for patients with Fanconi anemia Type A (FA-A), which affects 80% of the patients with FA in Spain. (Author)

  19. Nutrition and mental performance in children - The NUTRIMENTHE project.

    Science.gov (United States)

    Horton, Claire

    2013-01-01

    The Nutrition And Mental Performance In Children project of the European Union (NUTRIMENTHE) has added to the evidence that maternal diet influences mental performance in childhood. The biological mechanisms have been shown to be complex and to involve genetic variation, as indicated by the work linking genetic variation in the fatty acid desaturase gene cluster to the processing of fatty acids. The role played by a child's diet also needs to be considered and this question is being addressed through the inclusion of post-natal intervention studies in the NUTRIMENTHE project's research plan. This paper summarises progress. © The Author(s) 2013.

  20. Biotechnological approaches for the genetic improvement of Jatropha curcas L.: A biodiesel plant

    KAUST Repository

    Kumar, Nitish; Singh, Amritpal S.; Kumari, Swati; Reddy, Muppala P.

    2015-01-01

    . In this review, an effort is made to project the current biotechnology and molecular biology tools employed in the direction of, evaluating the genetic diversity and phylogeny revelation of Jatropha spp., identification of genetic markers for desirable traits

  1. Behavioural genetics: why eugenic selection is preferable to enhancement.

    Science.gov (United States)

    Savulescu, Julian; Hemsley, Melanie; Newson, Ainsley; Foddy, Bennett

    2006-01-01

    Criminal behaviour is but one behavioural tendency for which a genetic influence has been suggested. Whilst this research certainly raises difficult ethical questions and is subject to scientific criticism, one recent research project suggests that for some families, criminal tendency might be predicted by genetics. In this paper, supposing this research is valid, we consider whether intervening in the criminal tendency of future children is ethically justifiable. We argue that, if avoidance of harm is a paramount consideration, such an intervention is acceptable when genetic selection is employed instead of genetic enhancement. Moreover, other moral problems in avoiding having children with a tendency to criminal behaviour, such as the prospect of social discrimination, can also be overcome.

  2. Analysis of genetic diversity in Arrhenatherum elatius Germplasm ...

    African Journals Online (AJOL)

    Jane

    2011-07-25

    Jul 25, 2011 ... The genetic diversity of 19 Arrhenatherum elatius accessions was analyzed ... can be used as novel DNA markers for genomic .... phylogenies and evolutionary biology. .... struction Project of the Beijing Academy of Agriculture.

  3. The 1000 Genomes Project: new opportunities for research and social challenges

    Science.gov (United States)

    2010-01-01

    The 1000 Genomes Project, an international collaboration, is sequencing the whole genome of approximately 2,000 individuals from different worldwide populations. The central goal of this project is to describe most of the genetic variation that occurs at a population frequency greater than 1%. The results of this project will allow scientists to identify genetic variation at an unprecedented degree of resolution and will also help improve the imputation methods for determining unobserved genetic variants that are not represented on current genotyping arrays. By identifying novel or rare functional genetic variants, researchers will be able to pinpoint disease-causing genes in genomic regions initially identified by association studies. This level of detailed sequence information will also improve our knowledge of the evolutionary processes and the genomic patterns that have shaped the human species as we know it today. The new data will also lay the foundation for future clinical applications, such as prediction of disease susceptibility and drug response. However, the forthcoming availability of whole genome sequences at affordable prices will raise ethical concerns and pose potential threats to individual privacy. Nevertheless, we believe that these potential risks are outweighed by the benefits in terms of diagnosis and research, so long as rigorous safeguards are kept in place through legislation that prevents discrimination on the basis of the results of genetic testing. PMID:20193048

  4. Genetics of a butterfly relocation: large, small and introduced populations of the mountain endemic Erebia epiphron silesiana

    Czech Academy of Sciences Publication Activity Database

    Schmitt, T.; Čížek, Oldřich; Konvička, Martin

    2005-01-01

    Roč. 123, č. 1 (2005), s. 11-18 ISSN 0006-3207 R&D Projects: GA AV ČR(CZ) KJB6007306 Institutional research plan: CEZ:AV0Z50070508 Keywords : conservation genetics * genetic diversity * genetic erosion Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.581, year: 2005

  5. Cutaneous drug hypersensitivity : Immunological and genetic perspective

    Directory of Open Access Journals (Sweden)

    Kisalay Ghosh

    2011-01-01

    Full Text Available Drug hypersensitivity is an unpredictable, immunologically mediated adverse reaction, clustered in a genetically predisposed individual. The role of "hapten concept" in immune sensitization has recently been contested by the "pharmacological interaction" hypothesis. After completion of the "human genome project" and with the availability of high-resolution genotyping, genetic susceptibility to hypersensitivity for certain drugs has been proved beyond doubt though the trend is ethnicity and phenotype dependent. Application of this newly acquired knowledge may reduce or abolish the morbidity and mortality associated with cutaneous drug hypersensitivity.

  6. All about the Human Genome Project (HGP)

    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 ...

  7. An overview of the human genome project

    Energy Technology Data Exchange (ETDEWEB)

    Batzer, M.A.

    1994-01-01

    The human genome project is one of the most ambitious scientific projects to date, with the ultimate goal being a nucleotide sequence for all four billion bases of human DNA. In the process of determining the nucleotide sequence for each base, the location, function, and regulatory regions from the estimated 100,000 human genes will be identified. The genome project itself relies upon maps of the human genetic code derived from several different levels of resolution. Genetic linkage analysis provides a low resolution genome map. The information for genetic linkage maps is derived from the analysis of chromosome specific markers such as Sequence Tagged Sites (STSs), Variable Number of Tandem Repeats (VNTRs) or other polymorphic (highly informative) loci in a number of different-families. Using this information the location of an unknown disease gene can be limited to a region comprised of one million base pairs of DNA or less. After this point, one must construct or have access to a physical map of the region of interest. Physical mapping involves the construction of an ordered overlapping (contiguous) set of recombinant DNA clones. These clones may be derived from a number of different vectors including cosmids, Bacterial Artificial Chromosomes (BACs), P1 derived Artificial Chromosomes (PACs), somatic cell hybrids, or Yeast Artificial Chromosomes (YACs). The ultimate goal for physical mapping is to establish a completely overlapping (contiguous) set of clones for the entire genome. After a gene or region of interest has been localized using physical mapping the nucleotide sequence is determined. The overlap between genetic mapping, physical mapping and DNA sequencing has proven to be a powerful tool for the isolation of disease genes through positional cloning.

  8. Genetic transformation of barley: limiting factors

    Czech Academy of Sciences Publication Activity Database

    Vyroubalová, Š.; Šmehilová, M.; Galuszka, P.; Ohnoutková, Ludmila

    2011-01-01

    Roč. 55, č. 2 (2011), s. 213-224 ISSN 0006-3134 R&D Projects: GA ČR GD522/08/H003; GA MŠk 1M06030 Institutional research plan: CEZ:AV0Z50380511 Keywords : Agrobacterium * albinism * Hordeum Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.974, year: 2011

  9. The 1000 bull genome project

    Science.gov (United States)

    To meet growing global demands for high value protein from milk and meat, rates of genetic gain in domestic cattle must be accelerated. At the same time, animal health and welfare must be considered. The 1000 bull genomes project supports these goals by providing annotated sequence variants and ge...

  10. Ethical and legal issues arising from complex genetic disorders. DOE final report

    Energy Technology Data Exchange (ETDEWEB)

    Andrews, Lori

    2002-10-09

    The project analyzed the challenges raised by complex genetic disorders in genetic counselling, for clinical practice, for public health, for quality assurance, and for protection against discrimination. The research found that, in some settings, solutions created in the context of single gene disorders are more difficult to apply to complex disorders. In other settings, the single gene solutions actually backfired and created additional problems when applied to complex genetic disorders. The literature of five common, complex genetic disorders--Alzheimer's, asthma, coronary heart disease, diabetes, and psychiatric illnesses--was evaluated in depth.

  11. Plant breeding and genetics newsletter. No. 14

    International Nuclear Information System (INIS)

    2004-12-01

    These last six months, the Plant Breeding and Genetics (PBG) Section of the Joint FAO/IAEA Division (NAFA/AGE) implemented five Research Coordination Meetings (RCMs) and one Consultants Meeting for a new Coordinated Research Project (CRP) on 'Molecular tools for quality improvement in vegetatively propagated crops including banana and cassava' (8-11 November 2004, Vienna). Other salient points were the training courses we implemented this semester in the framework of different Technical Cooperation (TC) projects.Details about these activities inside this Newsletter

  12. Plant breeding and genetics newsletter. No. 9

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    2002-07-01

    There have been a number of important events related to the activity of the Plant Breeding and Genetics sub-programme in the past six months. The joint FAO/IAEA RCMs on 'Molecular characterization of mutated genes controlling important traits for seed crop improvement' and 'Mutational analysis of root characters in annual food plants related to plant performance' were held in June, in Krakow, Poland. It was the third RCM of the CRP on crop plant genomics and the second in the CRP on root systems. More than 40 scientists from twenty countries participated in the meeting. Significant progress was achieved in presented projects of diverse areas of both CRPs. Although genomics and root genetics are methodologically among the most rapidly developing disciplines, the participants successfully tried to follow the latest developments. The Consultants Meeting on 'Physical mapping technologies for the identification and characterization of mutated genes contributing to crop quality' was also held in June, in Vienna. Physical mapping technologies provide new tools for the rapid advancement of breeding programs and are highly applicable to neglected crops in developing countries. Furthermore, they open new opportunities for developing modern approaches to plant improvement research. Consultants recommended the organization of a Co-ordinated Research Project dealing with application of these new technologies to breeding programmes with the use of induced mutations for crop improvement. It is expected that the new CRP will be initiated this year. In close collaboration with EU COST 851 'Gametic cells and molecular breeding for crop improvement' project we started with preparation and editing of a book on 'Doubled haploid production in crop plants. A manual'. More than 40 manuscripts were collected, reviewed by a team of EU COST 851 experts and are now in the final editing phase. Similarly, we finished editorial work on publishing the training material from the FAO/IAEA Training

  13. Plant breeding and genetics newsletter. No. 9

    International Nuclear Information System (INIS)

    2002-07-01

    There have been a number of important events related to the activity of the Plant Breeding and Genetics sub-programme in the past six months. The joint FAO/IAEA RCMs on 'Molecular characterization of mutated genes controlling important traits for seed crop improvement' and 'Mutational analysis of root characters in annual food plants related to plant performance' were held in June, in Krakow, Poland. It was the third RCM of the CRP on crop plant genomics and the second in the CRP on root systems. More than 40 scientists from twenty countries participated in the meeting. Significant progress was achieved in presented projects of diverse areas of both CRPs. Although genomics and root genetics are methodologically among the most rapidly developing disciplines, the participants successfully tried to follow the latest developments. The Consultants Meeting on 'Physical mapping technologies for the identification and characterization of mutated genes contributing to crop quality' was also held in June, in Vienna. Physical mapping technologies provide new tools for the rapid advancement of breeding programs and are highly applicable to neglected crops in developing countries. Furthermore, they open new opportunities for developing modern approaches to plant improvement research. Consultants recommended the organization of a Co-ordinated Research Project dealing with application of these new technologies to breeding programmes with the use of induced mutations for crop improvement. It is expected that the new CRP will be initiated this year. In close collaboration with EU COST 851 'Gametic cells and molecular breeding for crop improvement' project we started with preparation and editing of a book on 'Doubled haploid production in crop plants. A manual'. More than 40 manuscripts were collected, reviewed by a team of EU COST 851 experts and are now in the final editing phase. Similarly, we finished editorial work on publishing the training material from the FAO/IAEA Training

  14. Assessment of genetic diversity among maize accessions using inter ...

    African Journals Online (AJOL)

    NRCC

    2011-11-07

    Nov 7, 2011 ... Key words: Zea mays, Tripsacum sp., genetic narrowing, gene pool, DNA markers. INTRODUCTION ... coding, genomic mapping and evolutionary biology (Reddy et al., 2002). ... (http://www.r-project.org). RESULTS AND ...

  15. Genetic relationships among buckwheat (Fagopyrum) species from ...

    Indian Academy of Sciences (India)

    2014-12-08

    Dec 8, 2014 ... from southwest China based on chloroplast and nuclear. SSR markers ..... A similarity matrix was calculated separately based on. cpSSR and nSSR ... The research was supported by International Cooperation Projects from Science and ... 2003 Genetic structure and reproduction dynamics of Salix reinii.

  16. Genetic engineering of cyanobacteria as biodiesel feedstock.

    Energy Technology Data Exchange (ETDEWEB)

    Ruffing, Anne.; Trahan, Christine Alexandra; Jones, Howland D. T.

    2013-01-01

    Algal biofuels are a renewable energy source with the potential to replace conventional petroleum-based fuels, while simultaneously reducing greenhouse gas emissions. The economic feasibility of commercial algal fuel production, however, is limited by low productivity of the natural algal strains. The project described in this SAND report addresses this low algal productivity by genetically engineering cyanobacteria (i.e. blue-green algae) to produce free fatty acids as fuel precursors. The engineered strains were characterized using Sandias unique imaging capabilities along with cutting-edge RNA-seq technology. These tools are applied to identify additional genetic targets for improving fuel production in cyanobacteria. This proof-of-concept study demonstrates successful fuel production from engineered cyanobacteria, identifies potential limitations, and investigates several strategies to overcome these limitations. This project was funded from FY10-FY13 through the President Harry S. Truman Fellowship in National Security Science and Engineering, a program sponsored by the LDRD office at Sandia National Laboratories.

  17. Genetic effects on gene expression across human tissues

    NARCIS (Netherlands)

    Battle, Alexis; Brown, Christopher D.; Engelhardt, Barbara E.; Montgomery, Stephen B.; Aguet, François; Ardlie, Kristin G.; Cummings, Beryl B.; Gelfand, Ellen T.; Getz, Gad; Hadley, Kane; Handsaker, Robert E.; Huang, Katherine H.; Kashin, Seva; Karczewski, Konrad J.; Lek, Monkol; Li, Xiao; MacArthur, Daniel G.; Nedzel, Jared L.; Nguyen, Duyen T.; Noble, Michael S.; Segrè, Ayellet V.; Trowbridge, Casandra A.; Tukiainen, Taru; Abell, Nathan S.; Balliu, Brunilda; Barshir, Ruth; Basha, Omer; Bogu, Gireesh K.; Brown, Andrew; Castel, Stephane E.; Chen, Lin S.; Chiang, Colby; Conrad, Donald F.; Cox, Nancy J.; Damani, Farhan N.; Davis, Joe R.; Delaneau, Olivier; Dermitzakis, Emmanouil T.; Eskin, Eleazar; Ferreira, Pedro G.; Frésard, Laure; Gamazon, Eric R.; Garrido-Martín, Diego; Gewirtz, Ariel D. H.; Gliner, Genna; Gloudemans, Michael J.; Guigo, Roderic; Hall, Ira M.; Han, Buhm; He, Yuan

    2017-01-01

    Characterization of the molecular function of the human genome and its variation across individuals is essential for identifying the cellular mechanisms that underlie human genetic traits and diseases. The Genotype-Tissue Expression (GTEx) project aims to characterize variation in gene expression

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

    Directory of Open Access Journals (Sweden)

    Andréa Poyastro Pinheiro

    2006-09-01

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

  19. Translation and adaption of the Genetic Counseling Outcome Scale (GCOS-24) to Danish

    DEFF Research Database (Denmark)

    Diness, Birgitte Rode; Overbeck, Gritt; Duelund, T.

    2013-01-01

    Background and aim: The ability to measure patient outcomes from genetic counselling is a prerequisite for evidencebased development of practice. The Genetic Counselling Outcome Scale (GCOS-24) is a recently developed patient reported outcome measure. The aim of this project was to develop a Danish...... perception of genetic counseling and genetic conditions and led to adjustments of the original translation, leading to development of a tool better-suited to the target population. We would recommend the described approach when attempting translation of patient reported outcome measures...

  20. Human Genetic Variation and Parkinson’s Disease

    Directory of Open Access Journals (Sweden)

    Sun Ju Chung

    2010-05-01

    Full Text Available Parkinson’s disease (PD is a chronic neurodegenerative disorder with multifactorial etiology. In the past decade, the genetic causes of monogenic forms of familial PD have been defined. However, the etiology and pathogenesis of the majority of sporadic PD cases that occur in outbred populations have yet to be clarified. The recent development of resources such as the International HapMap Project and technological advances in high-throughput genotyping have provided new basis for genetic association studies of common complex diseases, including PD. A new generation of genome-wide association studies will soon offer a potentially powerful approach for mapping causal genes and will likely change treatment and alter our perception of the genetic determinants of PD. However, the execution and analysis of such studies will require great care.

  1. Los Alamos Science: The Human Genome Project. Number 20, 1992

    Science.gov (United States)

    Cooper, N. G.; Shea, N. eds.

    1992-01-01

    This document provides a broad overview of the Human Genome Project, with particular emphasis on work being done at Los Alamos. It tries to emphasize the scientific aspects of the project, compared to the more speculative information presented in the popular press. There is a brief introduction to modern genetics, including a review of classic work. There is a broad overview of the Genome Project, describing what the project is, what are some of its major five-year goals, what are major technological challenges ahead of the project, and what can the field of biology, as well as society expect to see as benefits from this project. Specific results on the efforts directed at mapping chromosomes 16 and 5 are discussed. A brief introduction to DNA libraries is presented, bearing in mind that Los Alamos has housed such libraries for many years prior to the Genome Project. Information on efforts to do applied computational work related to the project are discussed, as well as experimental efforts to do rapid DNA sequencing by means of single-molecule detection using applied spectroscopic methods. The article introduces the Los Alamos staff which are working on the Genome Project, and concludes with brief discussions on ethical, legal, and social implications of this work; a brief glimpse of genetics as it may be practiced in the next century; and a glossary of relevant terms.

  2. Los Alamos Science: The Human Genome Project. Number 20, 1992

    Energy Technology Data Exchange (ETDEWEB)

    Cooper, N G; Shea, N [eds.

    1992-01-01

    This article provides a broad overview of the Human Genome Project, with particular emphasis on work being done at Los Alamos. It tries to emphasize the scientific aspects of the project, compared to the more speculative information presented in the popular press. There is a brief introduction to modern genetics, including a review of classic work. There is a broad overview of the Genome Project, describing what the project is, what are some of its major five-year goals, what are major technological challenges ahead of the project, and what can the field of biology, as well as society expect to see as benefits from this project. Specific results on the efforts directed at mapping chromosomes 16 and 5 are discussed. A brief introduction to DNA libraries is presented, bearing in mind that Los Alamos has housed such libraries for many years prior to the Genome Project. Information on efforts to do applied computational work related to the project are discussed, as well as experimental efforts to do rapid DNA sequencing by means of single-molecule detection using applied spectroscopic methods. The article introduces the Los Alamos staff which are working on the Genome Project, and concludes with brief discussions on ethical, legal, and social implications of this work; a brief glimpse of genetics as it may be practiced in the next century; and a glossary of relevant terms.

  3. The lawful uses of knowledge from the Human Genome Project

    Energy Technology Data Exchange (ETDEWEB)

    Grad, F.P.

    1994-04-15

    Part I of this study deals with the right to know or not to know personal genetic information, and examines available legal protections of the right of privacy and the adverse effect of the disclosure of genetic information both on employment and insurance interests and on self esteem and protection of personal integrity. The study examines the rationale for the legal protection of privacy as the protection of a public interest. It examines the very limited protections currently available for privacy interests, including genetic privacy interests, and concludes that there is a need for broader, more far-reaching legal protections. The second part of the study is based on the assumption that as major a project as the Human Genome Project, spending billions of dollars on science which is health related, will indeed be applied for preventive and therapeutic public health purposes, as it has been in the past. It also addresses the recurring fear that public health initiatives in the genetic area must evolve a new eugenic agenda, that we must not repeat the miserable discriminatory experiences of the past.

  4. Issues related to the use of genetic material and information.

    Science.gov (United States)

    Giarelli, E; Jacobs, L A

    2000-04-01

    To review issues regarding the use of genetic materials and information. Professional literature, regional and federal legislation. An analysis is provided of the relationship among advances in genetic technology, use of genetic material and information, and the development of laws that protect the interests of donors, researchers, and insurers. Rapid technological achievements have generated complex questions that are difficult to answer. The Human Genome Project began and the scientific discoveries were put to use before adequate professional and public debate on the ethical, legal, social, and clinical issues. The term "proper use" of genetic material and information is not defined consistently. An incomplete patchwork of protective state and federal legislation exists. Many complicated issues surround the use and potential misuse of genetic material and information. Rapidly advancing technology in genetics makes it difficult for regulations that protect individuals and families to keep pace. Oncology nurses need to recognize their role as change agents, understand genetic technology, and advocate for patients by participating in the debate on the proper use and prevention of misuse of genetic material and information.

  5. Comparative evaluation of genetic diversity using RAPD, SSR and ...

    Indian Academy of Sciences (India)

    1Department of Molecular Biology and Genetic Engineering, 2Ranichauri Hill Campus, G. B. Pant University of Agriculture ... Comparison of RAPD, SSR and cytochrome P450 gene based markers, in terms of the ...... project programme.

  6. Analysis of genetic variability in the Czech Dachshund population using microsatellite markers

    Czech Academy of Sciences Publication Activity Database

    Přibáňová, M.; Horák, Pavel; Schröffelová, D.; Urban, T.; Bechyňová, Renata; Musilová, L.

    2009-01-01

    Roč. 126, - (2009), s. 311-318 ISSN 0931-2668 R&D Projects: GA AV ČR 1QS500450578; GA ČR GD523/03/H076 Institutional research plan: CEZ:AV0Z50450515 Keywords : dachshund * dog * genetic variability * microsatellite Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.706, year: 2009

  7. Advances in genetic detection of kidney disease

    International Nuclear Information System (INIS)

    Dosekun, Akinsan K.; Foringer, John R.; Kone, Bruce C.

    2003-01-01

    The Human Genome Project has provided a vast amount of molecular genetic information for the analysis of normal and diseased genes. This new information provides new opportunities for precise diagnosis, assessment of predisposition and risk factors and novel therapeutic strategies. At the same time, this constantly expanding knowledge base represents on e of the most difficult challenges in molecular medicine. For monogenic disease nearly 2000 human disease genes have thus for been identified. Most of these conditions are characterized by large mutational variation and even greater phenotypic variation. In nephrology, several genetic diseases have been elucidated that provide new insight into the structure, function and developmental biology of the glomerulus, tubules and urogenital tracts, as well as renal cell tumors. Great improvements in the diagnostic resolution of genetic diseases have been achieved, such that single base pair mutations can be readily detected. Because of accurate diagnosis and risk assessment, genetic testing may be valuable in improving disease management and preventive care when genotype-specific therapies are available. Moreover, such testing may identify de novo mutations and potentially aid in understanding the disease process. This review summarizes recent advances in the renal genetic database and methods for genetic testing of renal diseases. (author)

  8. GRECOS project. The use of genetics to predict the vascular recurrence after stroke

    Science.gov (United States)

    Fernández-Cadenas, Israel; Mendióroz, Maite; Giralt, Dolors; Nafria, Cristina; Garcia, Elena; Carrera, Caty; Gallego-Fabrega, Cristina; Domingues-Montanari, Sophie; Delgado, Pilar; Ribó, Marc; Castellanos, Mar; Martínez, Sergi; Freijo, Mari Mar; Jiménez-Conde, Jordi; Rubiera, Marta; Alvarez-Sabín, José; Molina, Carlos A.; Font, Maria Angels; Olivares, Marta Grau; Palomeras, Ernest; de la Ossa, Natalia Perez; Martinez-Zabaleta, Maite; Masjuan, Jaime; Moniche, Francisco; Canovas, David; Piñana, Carlos; Purroy, Francisco; Cocho, Dolores; Navas, Inma; Tejero, Carlos; Aymerich, Nuria; Cullell, Natalia; Muiño, Elena; Serena, Joaquín; Rubio, Francisco; Davalos, Antoni; Roquer, Jaume; Arenillas, Juan Francisco; Martí-Fábregas, Joan; Keene, Keith; Chen, Wei-Min; Worrall, Bradford; Sale, Michele; Arboix, Adrià; Krupinski, Jerzy; Montaner, Joan

    2017-01-01

    Background and Purpose Vascular recurrence occurs in 11% of patients during the first year after ischemic stroke (IS) or transient ischemic attack (TIA). Clinical scores do not predict the whole vascular recurrence risk, therefore we aimed to find genetic variants associated with recurrence that might improve the clinical predictive models in IS. Methods We analyzed 256 polymorphisms from 115 candidate genes in three patient cohorts comprising 4,482 IS or TIA patients. The discovery cohort was prospectively recruited and included 1,494 patients, 6.2% of them developed a new IS during the first year of follow-up. Replication analysis was performed in 2,988 patients using SNPlex or HumanOmni1-Quad technology. We generated a predictive model using Cox regression (GRECOS score), and generated risk groups using a classification tree method. Results The analyses revealed that rs1800801 in the MGP gene (HR: 1.33, p= 9×10−03), a gene related to artery calcification, was associated with new IS during the first year of follow-up. This polymorphism was replicated in a Spanish cohort (n=1.305), however it was not significantly associated in a North American cohort (n=1.683). The GRECOS score predicted new IS (p= 3.2×10−09) and could classify patients, from low risk of stroke recurrence (1.9%) to high risk (12.6%). Moreover, the addition of genetic risk factors to the GRECOS score improves the prediction compared to previous SPI-II score (p=0.03). Conclusions The use of genetics could be useful to estimate vascular recurrence risk after IS. Genetic variability in the MGP gene was associated with vascular recurrence in the Spanish population. PMID:28411264

  9. A 1000 Arab genome project to study the Emirati population.

    Science.gov (United States)

    Al-Ali, Mariam; Osman, Wael; Tay, Guan K; AlSafar, Habiba S

    2018-04-01

    Discoveries from the human genome, HapMap, and 1000 genome projects have collectively contributed toward the creation of a catalog of human genetic variations that has improved our understanding of human diversity. Despite the collegial nature of many of these genome study consortiums, which has led to the cataloging of genetic variations of different ethnic groups from around the world, genome data on the Arab population remains overwhelmingly underrepresented. The National Arab Genome project in the United Arab Emirates (UAE) aims to address this deficiency by using Next Generation Sequencing (NGS) technology to provide data to improve our understanding of the Arab genome and catalog variants that are unique to the Arab population of the UAE. The project was conceived to shed light on the similarities and differences between the Arab genome and those of the other ethnic groups.

  10. Mate choice for nonadditive genetic benefits correlate with MHC dissimilarity in the rose bitterling (Rhodeus ocellatus)

    Czech Academy of Sciences Publication Activity Database

    Agbali, M.; Reichard, Martin; Bryjová, Anna; Bryja, Josef; Smith, C.

    2010-01-01

    Roč. 64, č. 6 (2010), s. 1683-1696 ISSN 0014-3820 R&D Projects: GA AV ČR IAA600930608; GA ČR GA206/09/1163 Institutional research plan: CEZ:AV0Z60930519 Keywords : Additive genetic benefit * female mate choice * genetic compatibility * good genes * mate choice * MHC * nonadditive genetic benefit * olfactory cues * Rhodeus ocellatus * sexual selection Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 5.659, year: 2010

  11. Strong genetic overlap between executive functions and intelligence.

    Science.gov (United States)

    Engelhardt, Laura E; Mann, Frank D; Briley, Daniel A; Church, Jessica A; Harden, K Paige; Tucker-Drob, Elliot M

    2016-09-01

    Executive functions (EFs) are cognitive processes that control, monitor, and coordinate more basic cognitive processes. EFs play instrumental roles in models of complex reasoning, learning, and decision making, and individual differences in EFs have been consistently linked with individual differences in intelligence. By middle childhood, genetic factors account for a moderate proportion of the variance in intelligence, and these effects increase in magnitude through adolescence. Genetic influences on EFs are very high, even in middle childhood, but the extent to which these genetic influences overlap with those on intelligence is unclear. We examined genetic and environmental overlap between EFs and intelligence in a racially and socioeconomically diverse sample of 811 twins ages 7 to 15 years (M = 10.91, SD = 1.74) from the Texas Twin Project. A general EF factor representing variance common to inhibition, switching, working memory, and updating domains accounted for substantial proportions of variance in intelligence, primarily via a genetic pathway. General EF continued to have a strong, genetically mediated association with intelligence even after controlling for processing speed. Residual variation in general intelligence was influenced only by shared and nonshared environmental factors, and there remained no genetic variance in general intelligence that was unique of EF. Genetic variance independent of EF did remain, however, in a more specific perceptual reasoning ability. These results provide evidence that genetic influences on general intelligence are highly overlapping with those on EF. (PsycINFO Database Record (c) 2016 APA, all rights reserved).

  12. Genetically Modified GMDH Method with Cloning

    Czech Academy of Sciences Publication Activity Database

    Jiřina, Marcel; Jiřina jr., M.

    2007-01-01

    Roč. 28, - (2007), s. 29-37 ISSN 1870-4069. [NNAM 2007. International Conference on Neural Networks and Associative Memories /2./. Mexico City, 04.11.2007-09.11.2007] R&D Projects: GA MŠk(CZ) 1M0567 Institutional research plan: CEZ:AV0Z10300504 Keywords : GMDH neural network * genetic selection * cloning * Machine Learning Repository Subject RIV: BA - General Mathematics

  13. Mobilome and genetic modification of bifidobacteria.

    Science.gov (United States)

    Guglielmetti, S; Mayo, B; Álvarez-Martín, P

    2013-06-01

    Until recently, proper development of molecular studies in Bifidobacterium species has been hampered by growth difficulties, because of their exigent nutritive requirements, oxygen sensitivity and lack of efficient genetic tools. These studies, however, are critical to uncover the cross-talk between bifidobacteria and their hosts' cells and to prove unequivocally the supposed beneficial effects provided through the endogenous bifidobacterial populations or after ingestion as probiotics. The genome sequencing projects of different bifidobacterial strains have provided a wealth of genetic data that will be of much help in deciphering the molecular basis of the physiological properties of bifidobacteria. To this end, the purposeful development of stable cloning and expression vectors based on robust replicons - either from temperate phages or resident plasmids - is still needed. This review addresses the current knowledge on the mobile genetic elements of bifidobacteria (prophages, plasmids and transposons) and summarises the different types of vectors already available, together with the transformation procedures for introducing DNA into the cells. It also covers recent molecular studies performed with such vectors and incipient results on the genetic modification of these organisms, establishing the basis that would allow the use of bifidobacteria for future biotechnological applications.

  14. The Genetic Privacy Act and commentary

    Energy Technology Data Exchange (ETDEWEB)

    Annas, G.J.; Glantz, L.H.; Roche, P.A.

    1995-02-28

    The Genetic Privacy Act is a proposal for federal legislation. The Act is based on the premise that genetic information is different from other types of personal information in ways that require special protection. The DNA molecule holds an extensive amount of currently indecipherable information. The major goal of the Human Genome Project is to decipher this code so that the information it contains is accessible. The privacy question is, accessible to whom? The highly personal nature of the information contained in DNA can be illustrated by thinking of DNA as containing an individual`s {open_quotes}future diary.{close_quotes} A diary is perhaps the most personal and private document a person can create. It contains a person`s innermost thoughts and perceptions, and is usually hidden and locked to assure its secrecy. Diaries describe the past. The information in one`s genetic code can be thought of as a coded probabilistic future diary because it describes an important part of a unique and personal future. This document presents an introduction to the proposal for federal legislation `the Genetic Privacy Act`; a copy of the proposed act; and comment.

  15. Plant breeding and genetics newsletter, No. 24, January 2010

    International Nuclear Information System (INIS)

    2010-01-01

    In the past biennium Plant Breeding and Genetics (PBG) subprogramme served 105 Member States through sixty-four national (30 Africa, 24 Asia and the Pacific, seven Latin America and the Caribbean, three Europe), seven regional (one Africa, four Asia and the Pacific, one Latin America and the Caribbean, one Europe) and one interregional Technical Cooperation Projects (TCPs), and six Coordinated Research Projects (CRPs) . Chosen highlights of these activities, you will find inside this issue

  16. Studying Human Disease Genes in "Caenorhabditis Elegans": A Molecular Genetics Laboratory Project

    Science.gov (United States)

    Cox-Paulson, Elisabeth A.; Grana, Theresa M.; Harris, Michelle A.; Batzli, Janet M.

    2012-01-01

    Scientists routinely integrate information from various channels to explore topics under study. We designed a 4-wk undergraduate laboratory module that used a multifaceted approach to study a question in molecular genetics. Specifically, students investigated whether "Caenorhabditis elegans" can be a useful model system for studying genes…

  17. Genetics of Valvular Heart Disease

    Science.gov (United States)

    LaHaye, Stephanie; Lincoln, Joy

    2015-01-01

    Valvular heart disease is associated with significant morbidity and mortality and often the result of congenital malformations. However, the prevalence is increasing in adults not only because of the growing aging population, but also because of improvements in the medical and surgical care of children with congenital heart valve defects. The success of the Human Genome Project and major advances in genetic technologies, in combination with our increased understanding of heart valve development, has led to the discovery of numerous genetic contributors to heart valve disease. These have been uncovered using a variety of approaches including the examination of familial valve disease and genome-wide association studies to investigate sporadic cases. This review will discuss these findings and their implications in the treatment of valvular heart disease. PMID:24743897

  18. Genetic diversity of Cryptosporidium spp. in captive reptiles

    Czech Academy of Sciences Publication Activity Database

    Xiao, L.; Ryan, U. M.; Graczyk, T. K.; Limor, J.; Li, L.; Kombert, M.; Junge, R.; Sulaiman, I. M.; Zhou, L.; Arrowood, M. J.; Koudela, Břetislav; Modrý, David; Lal, A. A.

    2004-01-01

    Roč. 70, č. 2 (2004), s. 891-899 ISSN 0099-2240 R&D Projects: GA ČR GA524/00/P015 Institutional research plan: CEZ:AV0Z6022909 Keywords : Cryptosporidium * reptiles * genetic diversity Subject RIV: EG - Zoology Impact factor: 3.810, year: 2004

  19. m6ASNP: a tool for annotating genetic variants by m6A function.

    Science.gov (United States)

    Jiang, Shuai; Xie, Yubin; He, Zhihao; Zhang, Ya; Zhao, Yuli; Chen, Li; Zheng, Yueyuan; Miao, Yanyan; Zuo, Zhixiang; Ren, Jian

    2018-04-02

    Large-scale genome sequencing projects have identified many genetic variants for diverse diseases. A major goal of these projects is to characterize these genetic variants to provide insight into their function and roles in diseases. N6-methyladenosine (m6A) is one of the most abundant RNA modifications in eukaryotes. Recent studies have revealed that aberrant m6A modifications are involved in many diseases. In this study, we present a user-friendly web server called "m6ASNP" that is dedicated to the identification of genetic variants targeting m6A modification sites. A random forest model was implemented in m6ASNP to predict whether the methylation status of a m6A site is altered by the variants surrounding the site. In m6ASNP, genetic variants in a standard VCF format are accepted as the input data, and the output includes an interactive table containing the genetic variants annotated by m6A function. In addition, statistical diagrams and a genome browser are provided to visualize the characteristics and annotate the genetic variants. We believe that m6ASNP is a highly convenient tool that can be used to boost further functional studies investigating genetic variants. The web server "m6ASNP" is implemented in JAVA and PHP and is freely available at http://m6asnp.renlab.org.

  20. "Wrecks of Ancient Life": Genetic Variants Vetted by Natural Selection.

    Science.gov (United States)

    Postlethwait, John H

    2015-07-01

    The Genetics Society of America's George W. Beadle Award honors individuals who have made outstanding contributions to the community of genetics researchers and who exemplify the qualities of its namesake as a respected academic, administrator, and public servant. The 2015 recipient is John Postlethwait. He has made groundbreaking contributions in developing the zebrafish as a molecular genetic model and in understanding the evolution of new gene functions in vertebrates. He built the first zebrafish genetic map and showed that its genome, along with that of distantly related teleost fish, had been duplicated. Postlethwait played an integral role in the zebrafish genome-sequencing project and elucidated the genomic organization of several fish species. Postlethwait is also honored for his active involvement with the zebrafish community, advocacy for zebrafish as a model system, and commitment to driving the field forward. Copyright © 2015 by the Genetics Society of America.

  1. Genetic Testing for Respiratory Disease: Are We There Yet?

    Directory of Open Access Journals (Sweden)

    Peter D Paré

    2012-01-01

    Full Text Available The human genome project promised a revolution in health care – the development of ‘personalized medicine’, where knowledge of an individual’s genetic code enables the prediction of risk for specific diseases and the potential to alter that risk based on preventive measures and lifestyle modification. The present brief review provides a report card on the progress toward that goal with respect to respiratory disease. Should generalized population screening for genetic risk factors for respiratory disease be instituted? Or not?

  2. The Greater Sekhukhune-CAPABILITY outreach project.

    Science.gov (United States)

    Gregersen, Nerine; Lampret, Julie; Lane, Tony; Christianson, Arnold

    2013-07-01

    The Greater Sekhukhune-CAPABILITY Outreach Project was undertaken in a rural district in Limpopo, South Africa, as part of the European Union-funded CAPABILITY programme to investigate approaches for capacity building for the translation of genetic knowledge into care and prevention of congenital disorders. Based on previous experience of a clinical genetic outreach programme in Limpopo, it aimed to initiate a district clinical genetic service in Greater Sekhukhune to gain knowledge and experience to assist in the implementation and development of medical genetic services in South Africa. Implementing the service in Greater Sekhukhune was impeded by a developing staff shortage in the province and pressure on the health service from the existing HIV/AIDS and TB epidemics. This situation underscores the need for health needs assessment for developing services for the care and prevention of congenital disorders in middle- and low-income countries. However, these impediments stimulated the pioneering of innovate ways to offer medical genetic services in these circumstances, including tele-teaching of nurses and doctors, using cellular phones to enhance clinical care and adapting and assessing the clinical utility of a laboratory test, QF-PCR, for use in the local circumstances.

  3. Diet, Genetic Factors, and the Gut Microbiome in Crohn's Disease

    OpenAIRE

    Gary D. Wu; James D. Lewis; Frederic D. Bushman

    2010-01-01

    This manuscript is part of a pilot effort on the part of NIH staff and the Nature publishing group to provide a more convenient archive for "marker papers" to be published. These "marker papers" are designed to provide the users of community resource data sets with information regarding the status and scope of individual community resource projects. For further information see editorial in September 2010 edition of Nature Genetics (Nature Genetics, 42, 729 (2010)), and t...

  4. Killer Whale Genetic Data - Southern resident killer whale pedigree analysis

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — In this project, we are using genetic variation to infer mating patterns in the southern killer whale community. In Canada, this population was listed as threatened...

  5. Methods for cost estimation in software project management

    Science.gov (United States)

    Briciu, C. V.; Filip, I.; Indries, I. I.

    2016-02-01

    The speed in which the processes used in software development field have changed makes it very difficult the task of forecasting the overall costs for a software project. By many researchers, this task has been considered unachievable, but there is a group of scientist for which this task can be solved using the already known mathematical methods (e.g. multiple linear regressions) and the new techniques as genetic programming and neural networks. The paper presents a solution for building a model for the cost estimation models in the software project management using genetic algorithms starting from the PROMISE datasets related COCOMO 81 model. In the first part of the paper, a summary of the major achievements in the research area of finding a model for estimating the overall project costs is presented together with the description of the existing software development process models. In the last part, a basic proposal of a mathematical model of a genetic programming is proposed including here the description of the chosen fitness function and chromosome representation. The perspective of model described it linked with the current reality of the software development considering as basis the software product life cycle and the current challenges and innovations in the software development area. Based on the author's experiences and the analysis of the existing models and product lifecycle it was concluded that estimation models should be adapted with the new technologies and emerging systems and they depend largely by the chosen software development method.

  6. Forward genetic screen for auxin-deficient mutants by cytokinin

    Czech Academy of Sciences Publication Activity Database

    Wu, L.; Luo, P.; Di, D.W.; Wang, L.; Wang, M.; Lu, C.K.; Wei, S.D.; Zhang, L.; Zhang, T.Z.; Amakorová, Petra; Strnad, Miroslav; Novák, Ondřej; Guo, G.Q.

    2015-01-01

    Roč. 5, JUL 6 (2015) ISSN 2045-2322 R&D Projects: GA MŠk(CZ) LO1204 Institutional support: RVO:61389030 Keywords : ETHYLENE-INSENSITIVE MUTANTS * YUCCA FLAVIN MONOOXYGENASES * ARABIDOPSIS-THALIANA Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 5.228, year: 2015

  7. College of Science Magazine explores genetic medicine, cancer therapies

    OpenAIRE

    Doss, Catherine

    2010-01-01

    The newest issue of the College of Science Magazine features a host of scientific research projects underway at Virginia Tech. New avenues in genetic medicine, environmental links to breast cancer, and resistance training for diabetics are just a few of the topics.

  8. A restoration genetics guide for coral reef conservation.

    Science.gov (United States)

    Baums, Iliana B

    2008-06-01

    Worldwide degradation of coral reef communities has prompted a surge in restoration efforts. They proceed largely without considering genetic factors because traditionally, coral populations have been regarded as open over large areas with little potential for local adaptation. Since, biophysical and molecular studies indicated that most populations are closed over shorter time and smaller spatial scales. Thus, it is justified to re-examine the potential for site adaptation in corals. There is ample evidence for differentiated populations, inbreeding, asexual reproduction and the occurrence of ecotypes, factors that may facilitate local adaptation. Discovery of widespread local adaptation would influence coral restoration projects mainly with regard to the physical and evolutionary distance from the source wild and/or captive bred propagules may be moved without causing a loss of fitness in the restored population. Proposed causes for loss of fitness as a result of (plant) restoration efforts include founder effects, genetic swamping, inbreeding and/or outbreeding depression. Direct evidence for any of these processes is scarce in reef corals due to a lack of model species that allow for testing over multiple generations and the separation of the relative contributions of algal symbionts and their coral hosts to the overall performance of the coral colony. This gap in our knowledge may be closed by employing novel population genetic and genomics approaches. The use of molecular tools may aid managers in the selection of appropriate propagule sources, guide spatial arrangement of transplants, and help in assessing the success of coral restoration projects by tracking the performance of transplants, thereby generating important data for future coral reef conservation and restoration projects.

  9. Genetic and Environmental Contributions to General Cognitive Ability through the First 16 Years of Life

    Science.gov (United States)

    Petrill, Stephen A.; Lipton, Paul A.; Hewitt, John K.; Plomin, Robert; Cherny, Stacey S.; Corley, Robin; DeFries, John C.

    2004-01-01

    The genetic and environmental contributions to the development of general cognitive ability throughout the first 16 years of life were examined using sibling data from the Colorado Adoption Project. Correlations were analyzed along with structural equation models to characterize the genetic and environmental influences on longitudinal stability…

  10. Genetic control of yellow vein mosaic virus disease tolerance in ...

    Indian Academy of Sciences (India)

    PUSHPARANI SENJAM

    2018-01-29

    Jan 29, 2018 ... 2All India Coordinated Research Project on Vegetable Crops, Directorate of Research, ... Qualitative genetic analysis was done on the basis of segregation pattern of ...... effective and useful method to utilize all the three types.

  11. All-male hybrids of a tetrapod Pelophylax esculentus share its origin and genetics of maintenance

    Czech Academy of Sciences Publication Activity Database

    Doležálková-Kaštánková, Marie; Pruvost, N. B. M.; Plötner, J.; Reyer, H. U.; Janko, Karel; Choleva, Lukáš

    2018-01-01

    Roč. 9, č. 1 (2018), č. článku 13. ISSN 2042-6410 R&D Projects: GA MŠk EF15_003/0000460; GA ČR GJ15-19947Y; GA ČR GA13-12580S Institutional support: RVO:67985904 Keywords : Pelophylax * water frog * hemiclone Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Genetics and heredity (medical genetics to be 3) Impact factor: 3.635, year: 2016

  12. 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)

  13. The Human Variome Project.

    Science.gov (United States)

    Burn, John; Watson, Michael

    2016-06-01

    The practical realization of genomics has meant a growing realization that variant interpretation is a major barrier to practical use of DNA sequence data. The late Professor Dick Cotton devoted his life to innovation in molecular genetics and was a prime mover in the international response to the need to understand the "variome." His leadership resulted in the launch first of the Human Genetic Variation Society and then, in 2006, an international agreement to launch the Human Variome Project (HVP), aimed at data integration enabled by standards and infrastructure of the databases of variants being identified in families with a range of inherited disorders. The project attracted a network of affiliates across 81 countries and earned formal recognition by UNESCO, which now hosts its biennial meetings. It has also signed a Memorandum of Understanding with the World Health Organization. Future progress will depend on longer term secure funding and integration with the efforts of the genomics community where the rapid advances in sequencing technology have enabled variant capture on a previously unimaginable scale. Efforts are underway to integrate the efforts of HVP with those of the Global Alliance for Genomics and Health to provide a lasting legacy of Dick Cotton's vision. © 2016 WILEY PERIODICALS, INC.

  14. LCREP genetic stock ID - Lower Columbia River Ecosystem Monitoring Project

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — 1) The purpose of this project is to document juvenile salmon habitat occurrence in the Lower Columbia River and estuary, and examine how habitat conditions...

  15. The Human Genome Project: An Imperative for International Collaboration.

    Science.gov (United States)

    Allende, J. E.

    1989-01-01

    Discussed is the Human Genome Project which aims to decipher the totality of the human genetic information. The historical background, the objectives, international cooperation, ethical discussion, and the role of UNESCO are included. (KR)

  16. Characterizing genetic syndromes involved in cancer and radiogenic cancer risk

    International Nuclear Information System (INIS)

    Unrau, P.; Doerffer, K.

    1998-01-01

    The COG project 2806A (1995), reviewed the On-line Mendelian Inheritance in Man (OMIM) database of genetic syndromes to identify those syndromes, genes, and DNA sequences implicated in some way in the cancer process, and especially in radiogenic cancer risk. The current report describes a recent update of the survey in light of two years of further progress in the Human Genome project, and is intended to supply a comprehensive list of those genetic syndromes, genes, DNA sequences and map locations that define genes likely to be involved in cancer risk. Of the 8203 syndromes in OMIM in 1997 June, 814 are associated, even if marginally, with cancer. Of the 814 syndromes so linked, 672 have been mapped to a chromosome, and 476 have been mapped to a chromosome and had a DNA sequence associated with their messenger RNA (or cDNA) sequences. In addition, 35 syndromes have sequences not associated with map locations, and the remaining 107 have neither been mapped nor sequenced. We supply the list of the various genetic syndromes sorted by chromosome location and by OMIM descriptor, together with all the associated but unmapped and unsequenced syndromes. (author)

  17. Characterizing genetic syndromes involved in cancer and radiogenic cancer risk

    Energy Technology Data Exchange (ETDEWEB)

    Unrau, P; Doerffer, K

    1998-01-01

    The COG project 2806A (1995), reviewed the On-line Mendelian Inheritance in Man (OMIM) database of genetic syndromes to identify those syndromes, genes, and DNA sequences implicated in some way in the cancer process, and especially in radiogenic cancer risk. The current report describes a recent update of the survey in light of two years of further progress in the Human Genome project, and is intended to supply a comprehensive list of those genetic syndromes, genes, DNA sequences and map locations that define genes likely to be involved in cancer risk. Of the 8203 syndromes in OMIM in 1997 June, 814 are associated, even if marginally, with cancer. Of the 814 syndromes so linked, 672 have been mapped to a chromosome, and 476 have been mapped to a chromosome and had a DNA sequence associated with their messenger RNA (or cDNA) sequences. In addition, 35 syndromes have sequences not associated with map locations, and the remaining 107 have neither been mapped nor sequenced. We supply the list of the various genetic syndromes sorted by chromosome location and by OMIM descriptor, together with all the associated but unmapped and unsequenced syndromes. (author) 1 tab., 4 figs.

  18. Genetic modification and genetic determinism

    Science.gov (United States)

    Resnik, David B; Vorhaus, Daniel B

    2006-01-01

    In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions. PMID:16800884

  19. Genetic modification and genetic determinism

    Directory of Open Access Journals (Sweden)

    Vorhaus Daniel B

    2006-06-01

    Full Text Available Abstract In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions.

  20. Distributed Research Project Scheduling Based on Multi-Agent Methods

    Directory of Open Access Journals (Sweden)

    Constanta Nicoleta Bodea

    2011-01-01

    Full Text Available Different project planning and scheduling approaches have been developed. The Operational Research (OR provides two major planning techniques: CPM (Critical Path Method and PERT (Program Evaluation and Review Technique. Due to projects complexity and difficulty to use classical methods, new approaches were developed. Artificial Intelligence (AI initially promoted the automatic planner concept, but model-based planning and scheduling methods emerged later on. The paper adresses the project scheduling optimization problem, when projects are seen as Complex Adaptive Systems (CAS. Taken into consideration two different approaches for project scheduling optimization: TCPSP (Time- Constrained Project Scheduling and RCPSP (Resource-Constrained Project Scheduling, the paper focuses on a multiagent implementation in MATLAB for TCSP. Using the research project as a case study, the paper includes a comparison between two multi-agent methods: Genetic Algorithm (GA and Ant Colony Algorithm (ACO.

  1. Genetic epidemiology of sporadic colorectal cancer

    Czech Academy of Sciences Publication Activity Database

    Vodička, Pavel; Pardini, Barbara; Souček, P.; Novotný, J.; Naccarati, Alessio; Vodičková, Ludmila; Hánová, Monika; Tulupová, Elena; Poláková, Veronika; Halamková, J.; Hemminki, K.

    2006-01-01

    Roč. 18, Supplement 1 (2006), S8-S8 ISSN 1107-3756. [The 11th World Congress on Advances in Oncology and 9th International Symposium on Molecular Medicine . 12.10.2006-14.10.2006, Hersonissos] R&D Projects: GA ČR GA310/05/2626; GA MZd NR8563 Institutional research plan: CEZ:AV0Z50390512 Keywords : DNA repair genes Subject RIV: EB - Genetics ; Molecular Biology

  2. The Human Genome Project and Biology Education.

    Science.gov (United States)

    McInerney, Joseph D.

    1996-01-01

    Highlights the importance of the Human Genome Project in educating the public about genetics. Discusses four challenges that science educators must address: teaching for conceptual understanding, the nature of science, the personal and social impact of science and technology, and the principles of technology. Contains 45 references. (JRH)

  3. Biotechnology by Design: An Introductory Level, Project-Based, Synthetic Biology Laboratory Program for Undergraduate Students.

    Science.gov (United States)

    Beach, Dale L; Alvarez, Consuelo J

    2015-12-01

    Synthetic biology offers an ideal opportunity to promote undergraduate laboratory courses with research-style projects, immersing students in an inquiry-based program that enhances the experience of the scientific process. We designed a semester-long, project-based laboratory curriculum using synthetic biology principles to develop a novel sensory device. Students develop subject matter knowledge of molecular genetics and practical skills relevant to molecular biology, recombinant DNA techniques, and information literacy. During the spring semesters of 2014 and 2015, the Synthetic Biology Laboratory Project was delivered to sophomore genetics courses. Using a cloning strategy based on standardized BioBrick genetic "parts," students construct a "reporter plasmid" expressing a reporter gene (GFP) controlled by a hybrid promoter regulated by the lac-repressor protein (lacI). In combination with a "sensor plasmid," the production of the reporter phenotype is inhibited in the presence of a target environmental agent, arabinose. When arabinose is absent, constitutive GFP expression makes cells glow green. But the presence of arabinose activates a second promoter (pBAD) to produce a lac-repressor protein that will inhibit GFP production. Student learning was assessed relative to five learning objectives, using a student survey administered at the beginning (pre-survey) and end (post-survey) of the course, and an additional 15 open-ended questions from five graded Progress Report assignments collected throughout the course. Students demonstrated significant learning gains (p Biology Laboratory Project enhanced their understanding of molecular genetics. The laboratory project is highly adaptable for both introductory and advanced courses.

  4. Report on an Investigation into an Entry Level Clinical Doctorate for the Genetic Counseling Profession and a Survey of the Association of Genetic Counseling Program Directors.

    Science.gov (United States)

    Reiser, Catherine; LeRoy, Bonnie; Grubs, Robin; Walton, Carol

    2015-10-01

    The master's degree is the required entry-level degree for the genetic counseling profession in the US and Canada. In 2012 the Association of Genetic Counseling Program Directors (AGCPD) passed resolutions supporting retention of the master's as the entry-level and terminal degree and opposing introduction of an entry-level clinical doctorate (CD) degree. An AGCPD workgroup surveyed directors of all 34 accredited training programs with the objective of providing the Genetic Counseling Advanced Degrees Task Force (GCADTF) with information regarding potential challenges if master's programs were required to transition to an entry-level CD. Program demographics, projected ability to transition to an entry-level CD, factors influencing ability to transition, and potential effects of transition on programs, students and the genetic counseling workforce were characterized. Two programs would definitely be able to transition, four programs would close, thirteen programs would be at risk to close and fourteen programs would probably be able to transition with varying degrees of difficulty. The most frequently cited limiting factors were economic, stress on clinical sites, and administrative approval of a new degree/program. Student enrollment under an entry-level CD model was projected to decrease by 26.2 %, negatively impacting the workforce pipeline. The results further illuminate and justify AGCPD's position to maintain the master's as the entry-level degree.

  5. Expanding the Lotus japonicus reverse genetics toolbox – Development of LORE1 retrotransposon mutagenesis and artificial miRNA-mediated silencing

    DEFF Research Database (Denmark)

    Urbanski, Dorian Fabian

    2011-01-01

    . The protocols developed in the current project are now the cornerstone of a new LORE1 reverse genetics resource characterized by efficient mutant line generation and accurate mutation annotation. In parallel, artificial microRNAs (amiRNAs) were designed based on both Arabidopsis and Lotus backbones......Currently, the most common approach to studying Lotus japonicus (Lotus) genes is forward genetics in which a gene responsible for the studied phenotype is identified through map-based cloning. In reverse genetics, the activity of a gene of interest is modified to discover its mutant phenotype....... Prior to this project, the only reverse genetics resource available in Lotus was the TILLING resource. In an attempt to advance Lotus genetic studies, present study is focused on the development of two additional resources. The first is based on insertional mutagenesis and the second on harnessing post...

  6. The post-Human Genome Project mindset: race, reliability, and health care.

    Science.gov (United States)

    Kimmelman, J

    2006-11-01

    The following essay reports on the first session of a 2-day workshop on genetic diversity and science communication, organized by the Institute of Genetics. I argue that the four talks in this session reflected two different facets of a 'post-Human Genome Project (HGP)' view of human genetics. The first is characterized by an increasing interest in genetic differences. Two speakers - Troy Duster and Jasber Singh - expressed skepticism about one aspect of this trend: an emphasis on race in medicine and genetics. The other two speakers - Kenneth Weiss and Gustavo Turecki - spoke to a second facet of the post-HGP view: a recognition of the difficulty in translating genetic discovery into medical or public health applications. Though both sets of talks were highly critical of current trends in genetic research, they pulled in opposite directions: one warned about the role of genetics in stabilizing racial categories, while the other lamented the failure of any genetic claims or categories to stabilize at all. I argue that the use of racial categories in medicine seems likely to encounter scientific, medical, and social challenges.

  7. Several Cultures project

    International Nuclear Information System (INIS)

    Anon.

    Researches carried out in the 'Many Culture Project' of the Agricultural Nuclear Energy Center, Piracicaba, Sao Paulo State, Brazil, are described. Such researches comprise: genetic improvement of wheat; genetic improvement of rice; radioentomology of fruit flies (Ceratitis capitata); soil/sugar-cane relation; biological fixation of nitrogen by sugar-cane; radioentomology of the sugar-cane borer (Diatraea saccharalis); sugar-cane manuring; electron microscopy of B. mori and A. gemmatalis polyhedrosis; electron microscopy of some varieties of coffee-plant attacked with blight; nitrogen fixation in corn; confirmation of the extent of the concept of the value 'A'; behavior of the 14 C - and 35 S soil organic matter; fractionation of organic matter from the main types of Brazilian soils and measurement of the 14 C/ 12 C specific radioactivity; study of the radicular system of some cultures; influence of organic matter on the alteration of soils located in different Brazilian climatic zones. (M.A.) [pt

  8. The Human Genome Project and Mental Retardation: An Educational Program. Final Progress Report

    Energy Technology Data Exchange (ETDEWEB)

    Davis, Sharon

    1999-05-03

    The Arc, a national organization on mental retardation, conducted an educational program for members, many of whom have a family member with a genetic condition causing mental retardation. The project informed members about the Human Genome scientific efforts, conducted training regarding ethical, legal and social implications and involved members in issue discussions. Short reports and fact sheets on genetic and ELSI topics were disseminated to 2,200 of the Arc's leaders across the country and to other interested individuals. Materials produced by the project can e found on the Arc's web site, TheArc.org.

  9. The Human Genome Project and the social contract: a law policy approach.

    Science.gov (United States)

    Byk, C

    1992-08-01

    For the first time in history, genetics will enable science to completely identify each human as genetically unique. Will this knowledge reinforce the trend for more individual liberties or will it create a 'brave new world'? A law policy approach to the problems raised by the human genome project shows how far our democratic institutions are from being the proper forum to discuss such issues. Because of the fears and anxiety raised in the population, and also because of its wide implications on the everyday life, the human genome analysis more than any other project needs to succeed in setting up such a social assessment.

  10. Expertise for Teaching Biology Situated in the Context of Genetic Testing

    Science.gov (United States)

    Van der Zande, Paul; Akkerman, Sanne F.; Brekelmans, Mieke; Waarlo, Arend Jan; Vermunt, Jan D.

    2012-07-01

    Contemporary genomics research will impact the daily practice of biology teachers who want to teach up-to-date genetics in secondary education. This article reports on a research project aimed at enhancing biology teachers' expertise for teaching genetics situated in the context of genetic testing. The increasing body of scientific knowledge concerning genetic testing and the related consequences for decision-making indicate the societal relevance of an educational approach based on situated learning. What expertise do biology teachers need for teaching genetics in the personal health context of genetic testing? This article describes the required expertise by exploring the educational practice. Nine experienced teachers were interviewed about the pedagogical content, moral and interpersonal expertise areas concerning how to teach genetics in the personal health context of genetic testing, and the lessons of five of them were observed. The findings showed that the required teacher expertise encompasses specific pedagogical content expertise, interpersonal expertise and a preference for teacher roles and teaching approaches for the moral aspects of teaching in this context. A need for further development of teaching and learning activities for (reflection on) moral reasoning came to the fore. Suggestions regarding how to apply this expertise into context-based genetics education are discussed.

  11. The Human Genome Project (HGP): dividends and challenges: a ...

    African Journals Online (AJOL)

    The Human Genome Project (HGP): dividends and challenges: a review. ... Genomic studies have given profound insights into the genetic organization of ... with it will be an essential part of modern medicine and biology for years to come.

  12. Search for major genes with progeny test data to accelerate the development of genetically superior loblolly pine

    Energy Technology Data Exchange (ETDEWEB)

    NCSU

    2003-12-30

    This research project is to develop a novel approach that fully utilized the current breeding materials and genetic test information available from the NCSU-Industry Cooperative Tree Improvement Program to identify major genes that are segregating for growth and disease resistance in loblolly pine. If major genes can be identified in the existing breeding population, they can be utilized directly in the conventional loblolly pine breeding program. With the putative genotypes of parents identified, tree breeders can make effective decisions on management of breeding populations and operational deployment of genetically superior trees. Forest productivity will be significantly enhanced if genetically superior genotypes with major genes for economically important traits could be deployed in an operational plantation program. The overall objective of the project is to develop genetic model and analytical methods for major gene detection with progeny test data and accelerate the development of genetically superior loblolly pine. Specifically, there are three main tasks: (1) Develop genetic models for major gene detection and implement statistical methods and develop computer software for screening progeny test data; (2) Confirm major gene segregation with molecular markers; and (3) Develop strategies for using major genes for tree breeding.

  13. [Genetic aspects of genealogy].

    Science.gov (United States)

    Tetushkin, E Iu

    2011-11-01

    slower than the number of common ancestors, because the time to the nearest common ancestor is proportional to log2N, and the time to genetically effective ancestor, to N, where N is the population size. In relatively young populations, the number of genetically effective ancestors does not exceed the number of recombination hot spots, which is equal to 25000-50000. In ancient African populations with weaker linkage disequilibrium, their number may be higher. In genealogy, the degree of kinship is measured by the number of births separating the individuals under comparison, and in genetics, by Wright's coefficients of relationship (R). Genetic frames of a "large family" are limited by the average genomic differences among the members of the human population, which constitute approximately 0.1%. Conventionally it can be assumed that it is limited by relatives, associated with the members of the given nuclear family by the 7th degree of relatedness (R approximately 0.78%). However, in the course of the HapMap project it was established that 10-30% of pairs of individuals from the same population have at least one common genome region, which they inherited from a recent common ancestor. A nuclear family, if it is not consanguinous, unites two lineages, and indirectly, a multitude of them, constituting a "suprafamily" equivalent to a population. Some problems ofgenealogy and related historical issues can be resolved only with the help of genetics. These problems include identification of "true" and "false" Rurikids and the problem of continuity of the Y-chromosomal lineage of the Romanov dynasty. On the other hand, computer-aided genealogy and molecular genealogy seem to be promising in resolving genetic problems connected to recombination and coalescence ofgenomic regions.

  14. Genetic Investigations Using Immuno-biochemical Markers in a Maramureş Brown Cattle Population

    Directory of Open Access Journals (Sweden)

    Nicoleta Isfan

    2011-05-01

    Full Text Available The study of the genetic markers and identifying new markers involves an increasing number of research projects in the fields of genetics of immunology, biochemical genetics, molecular genetics, quantity genetics and the genetic improvement of animals. Some studies on genes frequency determining the red cells specificity and for whey hemoglobin are approached in the present report. In this way, some blood factors, most of them belonging to B system (the most complex system in cattle have been evidenced. The lowest gene frequency was present in K factor (7%, and highest one in, O1, G’ , W and F1 (100%. In addition to basic importance on knowledge and determination of cattle population genetic structure for studied protein loci, another theme proposed to correlate hemoglobin type with some traits of economical importance: milk yield, fat and protein content, fat and protein yield. Higher performance was recorded by HbA/HbA individuals.

  15. Yakima/Klickitat Fisheries Project Genetic Studies; Yakima/Klickitat Fisheries Project Monitoring and Evaluation, 2005-2006 Annual Report.

    Energy Technology Data Exchange (ETDEWEB)

    Busack, Craig A.; Fritts, Anthony L.; Kassler, Todd (Washington Department of Fish and Wildlife, Olympia, WA)

    2006-05-01

    This report covers one of many topics under the Yakima/Klickitat Fisheries Project's Monitoring and Evaluation Program (YKFPME). The YKFPME is funded under two BPA contracts, one for the Yakama Nation and the other for the Washington Department of Fish and Wildlife (Contract number 22370, Project Number 1995-063-25). A comprehensive summary report for all of the monitoring and evaluation topics will be submitted after all of the topical reports are completed. This approach to reporting enhances the ability of people to get the information they want, enhances timely reporting of results, and provides a condensed synthesis of the whole YKFPME. The current report was completed by the Washington Department of Fish and Wildlife.

  16. The Human Genome Project and Eugenics: Identifying the Impact on Individuals with Mental Retardation.

    Science.gov (United States)

    Kuna, Jason

    2001-01-01

    This article explores the impact of the mapping work of the Human Genome Project on individuals with mental retardation and the negative effects of genetic testing. The potential to identify disabilities and the concept of eugenics are discussed, along with ethical issues surrounding potential genetic therapies. (Contains references.) (CR)

  17. Projecting potential adoption of genetically engineered freeze-tolerant Eucalyptus in the United States

    Science.gov (United States)

    David N. Wear; Ernest Dixon IV; Robert C. Abt; Navinder Singh

    2015-01-01

    Development of commercial Eucalyptus plantations has been limited in the United States because of the species’ sensitivity to freezing temperatures. Recently developed genetically engineered clones of a Eucalyptus hybrid, which confer freeze tolerance, could expand the range of commercial plantations. This study explores how...

  18. 77 FR 48993 - Proposed Collection; Comment Request; The Sister Study: A Prospective Study of the Genetic and...

    Science.gov (United States)

    2012-08-15

    ... Genetic and Environmental Risk Factors for Breast Cancer SUMMARY: In compliance with the requirement of... proposed data collection projects, the National Institute of Environmental Health Sciences (NIEHS), the... Sister Study: A Prospective Study of the Genetic and Environmental Risk Factors for Breast Cancer. Type...

  19. Sleep disorders and Parkinson disease; lessons from genetics.

    Science.gov (United States)

    Gan-Or, Ziv; Alcalay, Roy N; Rouleau, Guy A; Postuma, Ronald B

    2018-01-31

    Parkinson disease is a common, age-related neurodegenerative disorder, projected to afflict millions of individuals in the near future. Understanding its etiology and identifying clinical, genetic or biological markers for Parkinson disease onset and progression is therefore of major importance. Various sleep-related disorders are the most common group of non-motor symptoms in advanced Parkinson disease, but they can also occur during its prodromal phase. However, with the exception of REM sleep behavior disorder, it is unclear whether they are part of the early pathological process of Parkinson disease, or if they develop as Parkinson disease advances because of treatments and neurodegeneration progression. The advancements in genetic studies in the past two decades have generated a wealth of information, and recent genetic studies offer new insight on the association of sleep-related disorders with Parkinson disease. More specifically, comparing genetic data between Parkinson disease and sleep-related disorders can clarify their association, which may assist in determining whether they can serve as clinical markers for Parkinson disease risk or progression. In this review, we discuss the current knowledge on the genetics of sleep-related disorders in Parkinson disease context, and the potential implications on research, diagnosis, counseling and treatment. Copyright © 2018 Elsevier Ltd. All rights reserved.

  20. Improving microalgae for biotechnology - From genetics to synthetic biology

    Czech Academy of Sciences Publication Activity Database

    Hlavová, Monika; Turóczy, Zoltán; Bišová, Kateřina

    2015-01-01

    Roč. 33, č. 6 (2015), s. 1194-1203 ISSN 0734-9750 R&D Projects: GA MŠk EE2.3.30.0059; GA MŠk ED2.1.00/03.0110 Institutional support: RVO:61388971 Keywords : Microalgae * Genetics * Mutagenesis Subject RIV: EE - Microbiology, Virology Impact factor: 9.848, year: 2015

  1. Who should know about our genetic makeup and why?

    Science.gov (United States)

    Takala, T.; Gylling, H. A.

    2000-01-01

    Recent developments in biology have made it possible to acquire more and more precise information concerning our genetic makeup. Although the most far-reaching effects of these developments will probably be felt only after the Human Genome Project has been completed in a few years' time, scientists can even today identify a number of genetic disorders which may cause illness and disease in their carriers. The improved knowledge regarding the human genome will, it is predicted, in the near future make diagnoses more accurate and treatments more effective, and thereby considerably reduce and prevent unnecessary suffering. On the other hand, however, the knowledge can also be, depending on the case, futile, distressing or plainly harmful. This is why we propose to answer in this paper the dual question: who should know about our genetic makeup and why? Through an analysis of prudential, moral and legal grounds for acquiring the information, we conclude that, at least on the levels of law and social policy, practically nobody is either duty-bound to receive or entitled to have that knowledge. Key Words: Genetic testing • genetic screening • law • ethics • duties PMID:10860207

  2. [Clinical genealogical and molecular genetic study of patients with mental retardation].

    Science.gov (United States)

    Hryshchenko, N V; B'ichkova, A M; Lyvshyts, A B; Kravchenko, S A; Pampukha, V N; Solov'ev, A A; Kucherenko, A M; Tatarskiĭ, P F; Afanas'eva, N A; Dubrovskaia, E V; Patskun, Ie Y; Zymak-Zakutnaia, N O; Nykytchina, T V; Lohysh, S Iu; Lyvshyts, L A

    2012-01-01

    The results of clinical, genealogical, cytogenetic and molecular genetic studies of 113 patients from 96 families with different forms of mental retardation from Ukraine are presented. This study was held as part of the CHERISH project of the 7-th Framework Program. The aim of the project is to improve diagnostics of mental retardation in children in Eastern Europe and Central Asia through detailed analysis of known chromosomal and gene's aberrations and to find the new gene-candidates that cause mental retardation. All patients have normal chromosome number (46XY or 46XX). The cases with fragile-X syndrome were eliminated using molecular genetic methods. Genome rearrangements were found among 28 patients using cytogenetic analysis, multiplex ligation-dependent probe amplification (MLPA analysis) ofsubtelomeric regions and array-based comparative genomic hybridisation (array CGH screening). In 10 cases known pathogenic CNV's were identified, 11 cases are unknown aberrations; their pathogenicity is being determined. The rest cases are known nonpathogenic gene rearrangements. Obtained results show the strong genetic heterogeneity of hereditary forms of mental retardation. The further studies will allow to identificate genes candidates and certain mutations in these genes that may be associated with this pathology.

  3. Genetic classes and genetic categories : Protecting genetic groups through data protection law

    NARCIS (Netherlands)

    Hallinan, Dara; de Hert, Paul; Taylor, L.; Floridi, L.; van der Sloot, B.

    2017-01-01

    Each person shares genetic code with others. Thus, one individual’s genome can reveal information about other individuals. When multiple individuals share aspects of genetic architecture, they form a ‘genetic group’. From a social and legal perspective, two types of genetic group exist: Those which

  4. Ecological Risk Assessment of Genetically Modified Higher Plants (GMHP)

    DEFF Research Database (Denmark)

    Kjær, C.; Damgaard, C.; Kjellsson, G.

    Preface This publication is a first version of a manual identifying the data needs for ecological risk assessment of genetically modified higher plants (GMHP). It is the intention of the authors to stimulate further discussion of what data are needed in order to conduct a proper ecological risk...... of the project Biotechnology: elements in environmental risk assessment of genetically modified plants. December 1999 Christian Kjær Introduction In ecological risk assessment of transgenic plants, information on a wide range of subjects is needed for an effective and reliable assessment procedure...... in the amendment to the directive. This report suggests a structured way to identify the type of data needed to perform a sound ecological risk assessment for genetically modified higher plants (GMHP). The identified data types are intended to support the evaluation of the following risks: risk of invasion...

  5. Plant Genetic Resources: Selected Issues from Genetic Erosion to Genetic Engineering

    Directory of Open Access Journals (Sweden)

    Karl Hammer

    2008-04-01

    Full Text Available Plant Genetic Resources (PGR continue to play an important role in the development of agriculture. The following aspects receive a special consideration:1. Definition. The term was coined in 1970. The genepool concept served as an important tool in the further development. Different approaches are discussed.2. Values of Genetic Resources. A short introduction is highlighting this problem and stressing the economic usfulness of PGR.3. Genetic Erosion. Already observed by E. Baur in 1914, this is now a key issue within PGR. The case studies cited include Ethiopia, Italy, China, S Korea, Greece and S. Africa. Modern approaches concentrate on allelic changes in varieties over time but neglect the landraces. The causes and consequences of genetic erosion are discussed.4. Genetic Resources Conservation. Because of genetic erosion there is a need for conservation. PGR should be consigned to the appropriate method of conservation (ex situ, in situ, on-farm according to the scientific basis of biodiversity (genetic diversity, species diversity, ecosystem diversity and the evolutionary status of plants (cultivated plants, weeds, related wild plants (crop wild relatives.5. GMO. The impact of genetically engineered plants on genetic diversity is discussed.6. The Conclusions and Recommendations stress the importance of PGR. Their conservation and use are urgent necessities for the present development and future survival of mankind.

  6. Lambda phage genetic switch as a system with critical behaviour

    Czech Academy of Sciences Publication Activity Database

    Vohradský, Jiří

    2017-01-01

    Roč. 431, OCT 27 2017 (2017), s. 32-38 ISSN 0022-5193 R&D Projects: GA MŠk(CZ) LM2015055 Institutional support: RVO:61388971 Keywords : Critical behaviour * Phage lambda * Genetic networks Subject RIV: EE - Microbiology, Virology OBOR OECD: Microbiology Impact factor: 2.113, year: 2016

  7. New STS molecular markers for assessment of genetic diversity and DNA fingerprinting in hop (Humulus lupulus L.)

    Czech Academy of Sciences Publication Activity Database

    Patzak, J.; Vrba, Lukáš; Matoušek, Jaroslav

    2007-01-01

    Roč. 50, č. 1 (2007), s. 15-25 ISSN 0831-2796 R&D Projects: GA ČR GA521/03/0072 Institutional research plan: CEZ:AV0Z50510513 Keywords : hop (Humulus lupulus L.) * genetic diversity Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.785, year: 2007

  8. Genetic polymorphisms and possible gene-gene interactions in metabolic and DNA repair genes: Effects on DNA damage

    Czech Academy of Sciences Publication Activity Database

    Naccarati, Alessio; Souček, P.; Štětina, R.; Haufroid, V.; Kumar, R.; Vodičková, Ludmila; Trtková, K.; Dušinská, M.; Hemminki, K.; Vodička, Pavel

    2006-01-01

    Roč. 593, 1-2 (2006), s. 22-31 ISSN 0027-5107 R&D Projects: GA ČR GA310/03/0437 Institutional research plan: CEZ:AV0Z5039906 Keywords : Single-strand breaks * Genetic polymorphisms * Metabolism Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 4.111, year: 2006

  9. Genetic distinction between contiguous urban and rural multimammate mice in Tanzania despite gene flow

    Czech Academy of Sciences Publication Activity Database

    Gryseels, S.; Goüy de Bellocq, Joëlle; Makundi, R.; Vanmechelen, K.; Broeckhove, J.; Mazoch, V.; Šumbera, R.; Zima Jr., Jan; Leirs, H.; Baird, Stuart J. E.

    2016-01-01

    Roč. 29, č. 10 (2016), s. 1952-1967 ISSN 1010-061X R&D Projects: GA ČR GCP502/11/J070; GA ČR GAP506/10/0983; GA MŠk EE2.3.20.0303 Institutional support: RVO:68081766 Keywords : Mastomys natalensis * urbanisation * synanthropy * population genetics * IMa2 * spatial genetics * Tanzania Subject RIV: EG - Zoology Impact factor: 2.792, year: 2016

  10. Restless legs syndrome in Czech patients with multiple sclerosis: An epidemiological and genetic study

    Czech Academy of Sciences Publication Activity Database

    Vávrová, J.; Kemlink, D.; Šonka, K.; Havrdová, E.; Horáková, D.; Pardini, Barbara; Müller-Myhsok, B.; Winkelmann, J.

    2012-01-01

    Roč. 13, č. 7 (2012), s. 848-851 ISSN 1389-9457 R&D Projects: GA MZd NR8563 Grant - others:GA ČR(CZ) GD309/08/H079; GA MZd(CZ) NT12141 Institutional research plan: CEZ:AV0Z50390512 Keywords : Secondary restless legs syndrome * Multiple sclerosis * Genetic association study Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.487, year: 2012

  11. Genetic diversity for fermentable carbohydrates production in alfalfa

    Energy Technology Data Exchange (ETDEWEB)

    Castonguay, Y.; Bertrand, A.; Duceppe, M.O.; Dube, M.P.; Michaud, R. [Agriculture and Agri-Food Canada, Quebec City, PQ (Canada)

    2009-07-01

    Alfalfa has many attributes that renders it suitable for bioethanol production, including its adaptability to diverse environmental conditions without any need for nitrogen fertilizer. However research is needed to develop biofuel-type alfalfa with improved biomass production and standability, increased persistence, and better cell wall degradability. The ethanol conversion rates from alfalfa biomass could be increased by genetically improving the accumulation of readily fermentable non-structural carbohydrates (NSC). This presentation reported on a screening project where genotypes with superior cell wall degradability were identified. NSC accumulation within 300 genotypes was randomly selected within six genetic backgrounds from Europe and North America. Biochemical analyses of dried stems revealed a large genetic variability for NSC content, with concentrations ranging from 20 to 100 mg per g DW. NSC variability was considerably higher in a genetic background of European origin compared to the other populations, therefore emphasizing the potential for genetic improvement for that trait. A modified commercial enzymatic cocktail known as AcceleraseTM 1000 Genencor is being developed to optimize the degradation of alfalfa biomass. DNA extracted from genotypes with the highest and lowest cell wall degradability or NSC accumulation will be pooled and used for bulk segregant analysis of DNA polymorphisms using the PCR-based sequence-related amplified polymorphism technique. It was concluded that the commercial release of biofuel-type alfalfa can be accelerated if the genetic markers associated with these traits can be identified.

  12. Genetic effects of high LET radiations

    International Nuclear Information System (INIS)

    Grahn, D.; Garriott, M.L.; Farrington, B.H.; Lee, C.H.; Russell, J.J.

    1981-01-01

    The objectives of this project are: (1) to assess genetic hazards from testicular burdens of 239 Pu and determine its retention and microdistribution in the testis; (2) to compare effects of 239 Pu with single, weekly, and continuous 60 Co gamma irradiation and single and weekly fission neutron irradiation to develop a basis for estimating relative biological effectiveness (RBE); and (3) to develop detailed dose-response data for genetic end points of concern at low doses of neutrons and gamma rays. Comparatively short-term genetic end points are used, namely: (1) the dominant lethal mutation rate in premeiotic and postmeiotic cell stages; (2) the frequency of abnormal sperm head morphology measured at various times after irradiation; and (3) the frequency of reciprocal chromosome translocations induced in spermatogonia and measured at first meiotic metaphase. Male hybrid B6CF 1 mice, 120 days old, are used for all studies. Measures of the retention, microdistributionand pollutant related changes. Assessment of human risk associated with nuclearing collective dose commitment will result in more attention being paid to potential releases of radionuclides at relatively short times after disposal

  13. Genetic predictors of response to antidepressants in the GENDEP project

    DEFF Research Database (Denmark)

    Uher, Rudolf; Huezo-Diaz, Patricia; Perroud, Nader

    2009-01-01

    -reuptake-inhibiting and norepinephrine-reuptake-inhibiting antidepressants. A total of 116 single nucleotide polymorphisms in 10 candidate genes were genotyped in 760 adult patients with moderate-to-severe depression, treated with escitalopram (a serotonin reuptake inhibitor) or nortriptyline (a norepinephrine reuptake inhibitor......) for 12 weeks in an open-label part-randomized multicenter study. The effect of genetic variants on change in depressive symptoms was evaluated using mixed linear models. Several variants in a serotonin receptor gene (HTR2A) predicted response to escitalopram with one marker (rs9316233) explaining 1...... to the serotonin-reuptake-inhibiting escitalopram, genes encoding proteins in norepinephrine signaling influencing response to the norepinephrine-reuptake-inhibiting nortriptyline and a common pathway gene influencing response to both antidepressants. The single marker associations explained only a small...

  14. Identification of novel genetic markers of breast cancer survival

    DEFF Research Database (Denmark)

    Guo, Qi; Schmidt, Marjanka K; Kraft, Peter

    2015-01-01

    BACKGROUND: Survival after a diagnosis of breast cancer varies considerably between patients, and some of this variation may be because of germline genetic variation. We aimed to identify genetic markers associated with breast cancer-specific survival. METHODS: We conducted a large meta-analysis ......BACKGROUND: Survival after a diagnosis of breast cancer varies considerably between patients, and some of this variation may be because of germline genetic variation. We aimed to identify genetic markers associated with breast cancer-specific survival. METHODS: We conducted a large meta......-analysis of studies in populations of European ancestry, including 37954 patients with 2900 deaths from breast cancer. Each study had been genotyped for between 200000 and 900000 single nucleotide polymorphisms (SNPs) across the genome; genotypes for nine million common variants were imputed using a common reference...... panel from the 1000 Genomes Project. We also carried out subtype-specific analyses based on 6881 estrogen receptor (ER)-negative patients (920 events) and 23059 ER-positive patients (1333 events). All statistical tests were two-sided. RESULTS: We identified one new locus (rs2059614 at 11q24...

  15. 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.

  16. Yakima/Klickitat Fisheries Project Genetic Studies; Yakima/Klickitat Fisheries Project Monitoring and Evaluation, 2001-2002 Annual Report.

    Energy Technology Data Exchange (ETDEWEB)

    Busack, Craig A.; Fritts, Anthony L.; Loxterman, Janet (Washington Department of Fish and Wildlife, Olympia, WA)

    2003-05-01

    In chapter 1 we report on studies of the population genetic structure, using DNA microsatellites, of steelhead collected from different locations in the Yakima River basin (Roza Dam, Ahtanum Creek, Toppenish Creek, and Satus Creek) in 2000 and 2001. Of 28 pairwise tests of genotypic differentiation, only the 2000 and 2001 Roza Dam collections and the 2000 and 2001 Satus Creek collections did not exhibit significant differences. Similarly, pairwise tests of genetic differentiation (FST) were significant for all comparisons except the between-years comparisons of Roza Dam, Toppenish Creek, and Satus Creek collections. All tests between populations sampled from different localities were significant, indicating that these collections represent genetically differentiated stocks. In chapter 2 we report on genetic comparisons, again using microsatellites, of the three spring chinook populations in the Yakima basin (Upper Yakima, Naches, and American) with respect to our ability to be able to estimate the proportions of the three populations in mixed smolt samples collected at Chandler. We evaluated this both in terms of mixed fishery analysis, where proportions are estimated, but the likely provenance of any particular fish is unknown, and classification, where an attempt is made to assign individual fish to their population of origin. Simulations were done over the entire ranged of stock proportions observed in the Yakima basin in the last 20+ years. Stock proportions can be estimated very accurately by either method. Chapter 3 reports on our ongoing effort at cryopreserving semen from wild Upper Yakima spring chinook. In 2002, semen from 91 males, more than 50% of those spawned, was cryopreserved. Representation over the spawning season was excellent. Chapters 4,5, and 6 all relate to the continuing development of the domestication study design. Chapter 4 details the ISRP consultations and evolution of the design from last year's preferred alternative to the

  17. Hedge fund replication with a genetic algorithm: breeding a usable mousetrap

    Czech Academy of Sciences Publication Activity Database

    Payne, B. C.; Trešl, Jiří

    2015-01-01

    Roč. 15, č. 10 (2015), s. 1705-1726 ISSN 1469-7688 R&D Projects: GA ČR(CZ) GA14-31783S Institutional support: RVO:67985998 Keywords : hedge funds * replication * genetic algorithm Subject RIV: AH - Economics Impact factor: 0.794, year: 2015

  18. Smith-Lemli-Opitz syndrome: Moleculat-genetic analysis of ten families

    Czech Academy of Sciences Publication Activity Database

    Kozák, L.; Francová, H.; Hrabincová, E.; Procházková, D.; Jittnerová, V.; Bezděch, V.; Šimek, Petr

    2000-01-01

    Roč. 23, - (2000), s. 409-412 ISSN 0141-8955 R&D Projects: GA ČR GA302/97/0742; GA MZd IZ4376; GA MZd IZ4379 Institutional research plan: CEZ:AV0Z5007907 Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.307, year: 2000

  19. Towards a genetic architecture of cryptic genetic variation

    Indian Academy of Sciences (India)

    Home; Journals; Journal of Genetics; Volume 84; Issue 3. Towards a genetic architecture of cryptic genetic variation and genetic assimilation: the contribution of K. G. Bateman. Ian Dworkin. Commentary on J. Genet. Classic Volume 84 Issue 3 December 2005 pp 223-226 ...

  20. Cytogenetic characterization and AFLP-based genetic linkage mapping for the butterfly Bicyclus anynana, covering all 28 karyotyped chromosomes

    Czech Academy of Sciences Publication Activity Database

    Van´t Hof, A. E.; Marec, František; Saccheri, I. J.; Brakefield, P. M.; Zwaan, B. J.

    2008-01-01

    Roč. 3, č. 12 (2008), e3882 E-ISSN 1932-6203 R&D Projects: GA ČR GA206/06/1860 Institutional research plan: CEZ:AV0Z50070508 Keywords : Bicyclus anynana * cytogenetic characterization * AFLP-based genetic linkage mapping Subject RIV: EB - Genetics ; Molecular Biology

  1. Relationships between parenting and adolescent adjustment over time: genetic and environmental contributions.

    Science.gov (United States)

    Neiderhiser, J M; Reiss, D; Hetherington, E M; Plomin, R

    1999-05-01

    The predictive association between parenting and adolescent adjustment has been assumed to be environmental; however, genetic and environmental contributions have not been examined. This article represents one effort to examine these associations in which a genetically informative design was used. Participants were 395 families with adolescent siblings who participated in the Nonshared Environment in Adolescent Development (D. Reiss et al., 1994) project at 2 times of assessment, 3 years apart. There were 5 sibling types in 2 types of families: 63 identical twins, 75 fraternal twins, and 58 full siblings in nondivorced families and 95 full, 60 half, and 44 genetically unrelated siblings in stepfamilies. Results indicate that the cross-lagged associations between parental conflict-negativity and adolescent antisocial behavior and depressive symptoms can be explained primarily by genetic factors. These findings emphasize the need to recognize and examine the impact that adolescents have on parenting and the contribution of genetic factors to developmental change.

  2. Host genetic variation impacts microbiome composition across human body sites.

    Science.gov (United States)

    Blekhman, Ran; Goodrich, Julia K; Huang, Katherine; Sun, Qi; Bukowski, Robert; Bell, Jordana T; Spector, Timothy D; Keinan, Alon; Ley, Ruth E; Gevers, Dirk; Clark, Andrew G

    2015-09-15

    The composition of bacteria in and on the human body varies widely across human individuals, and has been associated with multiple health conditions. While microbial communities are influenced by environmental factors, some degree of genetic influence of the host on the microbiome is also expected. This study is part of an expanding effort to comprehensively profile the interactions between human genetic variation and the composition of this microbial ecosystem on a genome- and microbiome-wide scale. Here, we jointly analyze the composition of the human microbiome and host genetic variation. By mining the shotgun metagenomic data from the Human Microbiome Project for host DNA reads, we gathered information on host genetic variation for 93 individuals for whom bacterial abundance data are also available. Using this dataset, we identify significant associations between host genetic variation and microbiome composition in 10 of the 15 body sites tested. These associations are driven by host genetic variation in immunity-related pathways, and are especially enriched in host genes that have been previously associated with microbiome-related complex diseases, such as inflammatory bowel disease and obesity-related disorders. Lastly, we show that host genomic regions associated with the microbiome have high levels of genetic differentiation among human populations, possibly indicating host genomic adaptation to environment-specific microbiomes. Our results highlight the role of host genetic variation in shaping the composition of the human microbiome, and provide a starting point toward understanding the complex interaction between human genetics and the microbiome in the context of human evolution and disease.

  3. Genetics/genomics education for nongenetic health professionals: a systematic literature review.

    Science.gov (United States)

    Talwar, Divya; Tseng, Tung-Sung; Foster, Margaret; Xu, Lei; Chen, Lei-Shih

    2017-07-01

    The completion of the Human Genome Project has enhanced avenues for disease prevention, diagnosis, and management. Owing to the shortage of genetic professionals, genetics/genomics training has been provided to nongenetic health professionals for years to establish their genomic competencies. We conducted a systematic literature review to summarize and evaluate the existing genetics/genomics education programs for nongenetic health professionals. Five electronic databases were searched from January 1990 to June 2016. Forty-four studies met our inclusion criteria. There was a growing publication trend. Program participants were mainly physicians and nurses. The curricula, which were most commonly provided face to face, included basic genetics; applied genetics/genomics; ethical, legal, and social implications of genetics/genomics; and/or genomic competencies/recommendations in particular professional fields. Only one-third of the curricula were theory-based. The majority of studies adopted a pre-/post-test design and lacked follow-up data collection. Nearly all studies reported participants' improvements in one or more of the following areas: knowledge, attitudes, skills, intention, self-efficacy, comfort level, and practice. However, most studies did not report participants' age, ethnicity, years of clinical practice, data validity, and data reliability. Many genetics/genomics education programs for nongenetic health professionals exist. Nevertheless, enhancement in methodological quality is needed to strengthen education initiatives.Genet Med advance online publication 20 October 2016.

  4. Notification: Evaluation of Office of Pesticide Programs’ Genetically Engineered Corn Insect Resistance Management

    Science.gov (United States)

    Project #OPE-FY15-0055, July 09, 2015. The EPA OIG plans to begin preliminary research on the EPA's ability to manage and prevent increased insect resistance to genetically engineered Bacillus thuringiensis (Bt) corn.

  5. The Netherlands twin register biobank: A resource for genetic epidemiological studies

    NARCIS (Netherlands)

    Willemsen, G.; Geus, E.J.C. de; Bartels, M.; Beijsterveldt, C.E.M.T. van; Brooks, A.I.; Estourgie-van Burk, G.F.; Fugman, D.A.; Hoekstra, C.; Hottenga, J.-J.; Kluft, K.; Meijer, P.; Montgomery, G.W.; Rizzu, P.; Sondervan, D.; Smit, A.B.; Spijker, S.; Suchiman, H.E.D.; Tischfield, J.A.; Lehner, T.; Slagboom, P.E.; Boomsma, D.I.

    2010-01-01

    In 2004 the Netherlands Twin Register (NTR) started a large scale biological sample collection in twin families to create a resource for genetic studies on health, lifestyle and personality. Between January 2004 and July 2008, adult participants from NTR research projects were invited into the

  6. 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.

  7. Genetic diversity of disease-associated loci in Turkish population.

    Science.gov (United States)

    Karaca, Sefayet; Cesuroglu, Tomris; Karaca, Mehmet; Erge, Sema; Polimanti, Renato

    2015-04-01

    Many consortia and international projects have investigated the human genetic variation of a large number of ethno-geographic groups. However, populations with peculiar genetic features, such as the Turkish population, are still absent in publically available datasets. To explore the genetic predisposition to health-related traits of the Turkish population, we analyzed 34 genes associated with different health-related traits (for example, lipid metabolism, cardio-vascular diseases, hormone metabolism, cellular detoxification, aging and energy metabolism). We observed relevant differences between the Turkish population and populations with non-European ancestries (that is, Africa and East Asia) in some of the investigated genes (that is, AGT, APOE, CYP1B1, GNB3, IL10, IL6, LIPC and PON1). As most complex traits are highly polygenic, we developed polygenic scores associated with different health-related traits to explore the genetic diversity of the Turkish population with respect to other human groups. This approach showed significant differences between the Turkish population and populations with non-European ancestries, as well as between Turkish and Northern European individuals. This last finding is in agreement with the genetic structure of European and Middle East populations, and may also agree with epidemiological evidences about the health disparities of Turkish communities in Northern European countries.

  8. Genetic analysis of cardiovascular risk factor clustering in spontaneous hypertension

    Czech Academy of Sciences Publication Activity Database

    Pravenec, Michal; Zídek, Václav; Landa, Vladimír; Kostka, Vlastimil; Musilová, Alena; Kazdová, L.; Fučíková, A.; Křenová, D.; Bílá, V.; Křen, Vladimír

    2000-01-01

    Roč. 46, - (2000), s. 233-240 ISSN 0015-5497 R&D Projects: GA MŠk LN00A079; GA ČR GA305/00/1646; GA ČR GA301/00/1636; GA MZd NB4904 Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 0.667, year: 2000

  9. Complexity theory and genetics: The computational power of crossing over

    Czech Academy of Sciences Publication Activity Database

    Pudlák, Pavel

    2001-01-01

    Roč. 171, č. 1 (2001), s. 201-223 ISSN 0890-5401 R&D Projects: GA AV ČR IAA1019901 Institutional research plan: CEZ:AV0Z1019905; CEZ:AV0Z1019905 Keywords : complexity * genetics * croning over Subject RIV: BA - General Mathematics Impact factor: 0.571, year: 2001

  10. Plant breeding and genetics newsletter. No. 20, January 2008

    International Nuclear Information System (INIS)

    2008-01-01

    The highlight of this issue is the Second Coordinators Meeting under RAS/5/048 (ARASIA): 'Mutation Induction and Supportive Breeding and Biotechnologies for Improving Crop Productivity', on 11-15 November 2007, in Damascus, Syrian Arab Republic. A major achievement of this regional project was the adoption of the Standard Material Transfer Agreement (SMTA) for germplasm exchanges. It puts the ARASIA States Parties participating in this project into a leadership position for the regional application of the SMTA under the Multilateral System on Access and Benefit Sharing in the framework of the International Treaty on Plant Genetic Resources for Food and Agriculture

  11. Plant breeding and genetics newsletter. No. 20, January 2008

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    2008-01-15

    The highlight of this issue is the Second Coordinators Meeting under RAS/5/048 (ARASIA): 'Mutation Induction and Supportive Breeding and Biotechnologies for Improving Crop Productivity', on 11-15 November 2007, in Damascus, Syrian Arab Republic. A major achievement of this regional project was the adoption of the Standard Material Transfer Agreement (SMTA) for germplasm exchanges. It puts the ARASIA States Parties participating in this project into a leadership position for the regional application of the SMTA under the Multilateral System on Access and Benefit Sharing in the framework of the International Treaty on Plant Genetic Resources for Food and Agriculture.

  12. Insights into the genetic structure and diversity of 38 South Asian Indians from deep whole-genome sequencing.

    Science.gov (United States)

    Wong, Lai-Ping; Lai, Jason Kuan-Han; Saw, Woei-Yuh; Ong, Rick Twee-Hee; Cheng, Anthony Youzhi; Pillai, Nisha Esakimuthu; Liu, Xuanyao; Xu, Wenting; Chen, Peng; Foo, Jia-Nee; Tan, Linda Wei-Lin; Koo, Seok-Hwee; Soong, Richie; Wenk, Markus Rene; Lim, Wei-Yen; Khor, Chiea-Chuen; Little, Peter; Chia, Kee-Seng; Teo, Yik-Ying

    2014-05-01

    South Asia possesses a significant amount of genetic diversity due to considerable intergroup differences in culture and language. There have been numerous reports on the genetic structure of Asian Indians, although these have mostly relied on genotyping microarrays or targeted sequencing of the mitochondria and Y chromosomes. Asian Indians in Singapore are primarily descendants of immigrants from Dravidian-language-speaking states in south India, and 38 individuals from the general population underwent deep whole-genome sequencing with a target coverage of 30X as part of the Singapore Sequencing Indian Project (SSIP). The genetic structure and diversity of these samples were compared against samples from the Singapore Sequencing Malay Project and populations in Phase 1 of the 1,000 Genomes Project (1 KGP). SSIP samples exhibited greater intra-population genetic diversity and possessed higher heterozygous-to-homozygous genotype ratio than other Asian populations. When compared against a panel of well-defined Asian Indians, the genetic makeup of the SSIP samples was closely related to South Indians. However, even though the SSIP samples clustered distinctly from the Europeans in the global population structure analysis with autosomal SNPs, eight samples were assigned to mitochondrial haplogroups that were predominantly present in Europeans and possessed higher European admixture than the remaining samples. An analysis of the relative relatedness between SSIP with two archaic hominins (Denisovan, Neanderthal) identified higher ancient admixture in East Asian populations than in SSIP. The data resource for these samples is publicly available and is expected to serve as a valuable complement to the South Asian samples in Phase 3 of 1 KGP.

  13. ECUT (Energy Conversion and Utilization Technologies) program: Biocatalysis project

    Science.gov (United States)

    Baresi, Larry

    1989-03-01

    The Annual Report presents the fiscal year (FY) 1988 research activities and accomplishments, for the Biocatalysis Project of the U.S. Department of Energy, Energy Conversion and Utilization Technologies (ECUT) Division. The ECUT Biocatalysis Project is managed by the Jet Propulsion Laboratory, California Institute of Technology. The Biocatalysis Project is a mission-oriented, applied research and exploratory development activity directed toward resolution of the major generic technical barriers that impede the development of biologically catalyzed commercial chemical production. The approach toward achieving project objectives involves an integrated participation of universities, industrial companies and government research laboratories. The Project's technical activities were organized into three work elements: (1) The Molecular Modeling and Applied Genetics work element includes research on modeling of biological systems, developing rigorous methods for the prediction of three-dimensional (tertiary) protein structure from the amino acid sequence (primary structure) for designing new biocatalysis, defining kinetic models of biocatalyst reactivity, and developing genetically engineered solutions to the generic technical barriers that preclude widespread application of biocatalysis. (2) The Bioprocess Engineering work element supports efforts in novel bioreactor concepts that are likely to lead to substantially higher levels of reactor productivity, product yields and lower separation energetics. Results of work within this work element will be used to establish the technical feasibility of critical bioprocess monitoring and control subsystems. (3) The Bioprocess Design and Assessment work element attempts to develop procedures (via user-friendly computer software) for assessing the energy-economics of biocatalyzed chemical production processes, and initiation of technology transfer for advanced bioprocesses.

  14. Final Progress Report: Developing Ethical Practices for Genetics Testing in the Workplace

    Energy Technology Data Exchange (ETDEWEB)

    Laura Roberts, MD; Teddy Warner, PhD

    2008-05-14

    Our multidisciplinary research team for this project involved collaboration between the Department of Psychiatry and Behavioral Medicine at the Medical College of Wisconsin (MCW) and the Department of Family and Community Medicine at the University of New Mexico Health Sciences Center (UNM HSC). Our research team in Wisconsin was led by Laura Roberts, M.D., Principal Investigator, and included Scott Helberg, MLS (Project Coordinator), Kate Green Hammond, Ph.D. (Consultant), Krisy Edenharder (Research Coordinator), and Mark Talatzko (Research Assistant). Our New Mexico-based team was led by Teddy Warner, Ph.D., Co-Principal Investigator and UNM Site Principal Investigator, and included Suzanne Roybal (Project Assistant), Darlyn Mabon (Project Assistant), Kate Green Hammond, PhD (Senior Research Scientist on the UNM team from 2004 until January, 2007), and Paulette Christopher (Research Assistant). In addition, computer technical and web support for the web-based survey conducted on a secure server at the University of New Mexico was provided by Kevin Wiley and Kim Hagen of the Systems and Programming Team of the Health Sciences Center Library and Information Center. We stated 3 aims in the grant proposal: (1) To collect web survey reports of the ethical perspectives, concerns, preferences and decision-making related to genetic testing using surveys from employees at: (a) Los Alamos National Laboratory (LANL); (b) Sandia National Laboratories (SNL); and (c) the University of New Mexico Health Sciences Center (UNMHSC); (2) To perform an extensive literature search and the extant survey data to develop evidence-based policy recommendations for ethically sound genetic testing associated with research and occupational health activities in the workplace; and, (3) To host a conference at the Medical College of Wisconsin to provide employers, workers, health professionals, researchers, the public, and the media an opportunity to consider ethical issues involved in genetic

  15. DNA Fingerprinting of Trout Lilies: A High School Student Project.

    Science.gov (United States)

    Vann, Carolyn N.; Saxon, Herbert L.; Brblic, Tom; Elliades, Stacie; Lambert, Scott; Shaw, Jake; Smith, Ryan; Inman, Megan

    1998-01-01

    Reports on a student's research project on the degree of genetic diversity within the trout lily species. Enables a rough prediction of the continuance of the species and provides insight into how to manage plants that might be endangered. Contains 16 references. (DDR)

  16. Application of genetic algorithm (GA) technique on demand estimation of fossil fuels in Turkey

    International Nuclear Information System (INIS)

    Canyurt, Olcay Ersel; Ozturk, Harun Kemal

    2008-01-01

    The main objective is to investigate Turkey's fossil fuels demand, projection and supplies by using the structure of the Turkish industry and economic conditions. This study develops scenarios to analyze fossil fuels consumption and makes future projections based on a genetic algorithm (GA). The models developed in the nonlinear form are applied to the coal, oil and natural gas demand of Turkey. Genetic algorithm demand estimation models (GA-DEM) are developed to estimate the future coal, oil and natural gas demand values based on population, gross national product, import and export figures. It may be concluded that the proposed models can be used as alternative solutions and estimation techniques for the future fossil fuel utilization values of any country. In the study, coal, oil and natural gas consumption of Turkey are projected. Turkish fossil fuel demand is increased dramatically. Especially, coal, oil and natural gas consumption values are estimated to increase almost 2.82, 1.73 and 4.83 times between 2000 and 2020. In the figures GA-DEM results are compared with World Energy Council Turkish National Committee (WECTNC) projections. The observed results indicate that WECTNC overestimates the fossil fuel consumptions. (author)

  17. What factors impact upon a woman’s decision to undertake genetic cancer testing?

    Directory of Open Access Journals (Sweden)

    Julie Anne Quinlivan

    2014-01-01

    Full Text Available Introduction: The advent of human genome project has lead to genetic tests that identify high-risk states for certain cancers. Many are privately marketed on the Internet. Despite the availability of tests, limited data has evaluated factors that lead to test uptake. The aim of the present study was to explore the attitudes of a cohort of new mothers towards uptake of a genetic cancer test with a 50% predictive value of cancer.Methods: A cross-sectional survey was undertaken. The project targeted women who had recently given birth at an Australian tertiary referral hospital. Women were asked about a theoretical blood test that detected an increased risk for the development of cancer. Attitudes and knowledge questionnaires were completed. Results: Of 232 consecutive women approached, 32 declined, giving a response rate of 86.2%. Only 63 (31.5% women stated they would have the test. Absence of religious belief, higher level of education, better knowledge of terms used in genetics, an absence of concern over emotional, employment and insurance discrimination and previous acceptance of Down syndrome screening in pregnancy were each associated with significantly higher rate of test uptake in univariate analysis (all pConclusion: Concern over discrimination and having made a prior decision to have genetic testing were the principal factors associated with decision-making.

  18. The impact of the human genome project on risk assessment

    International Nuclear Information System (INIS)

    Katarzyna Doerffer; Paul Unrau.

    1996-01-01

    The radiation protection approach to risk assessment assumes that cancer induction following radiation exposure is purely random. Present risk assessment methods derive risk from cancer incidence frequencies in exposed populations and associate disease outcomes totally with the level of exposure to ionizing red aeon. Exposure defines a risk factor that affects the probability of the disease outcome. But cancer risk can be affected by other risk factors such as underlying genetic factors (predisposition) of the exposed organism. These genetic risk factors are now becoming available for incorporation into ionizing radiation risk assessment Progress in the Human Genome Project (HOP) will lead to direct assays to measure the effects of genetic risk determinants in disease outcomes. When all genetic risk determinants are known and incorporated into risk assessment it will be possible to reevaluate the role of ionizing radiation in the causation of cancer. (author)

  19. From Genetics to Genetic Algorithms

    Indian Academy of Sciences (India)

    Genetic algorithms (GAs) are computational optimisation schemes with an ... The algorithms solve optimisation problems ..... Genetic Algorithms in Search, Optimisation and Machine. Learning, Addison-Wesley Publishing Company, Inc. 1989.

  20. The logic of single-cell projections from visual cortex.

    Science.gov (United States)

    Han, Yunyun; Kebschull, Justus M; Campbell, Robert A A; Cowan, Devon; Imhof, Fabia; Zador, Anthony M; Mrsic-Flogel, Thomas D

    2018-04-05

    Neocortical areas communicate through extensive axonal projections, but the logic of information transfer remains poorly understood, because the projections of individual neurons have not been systematically characterized. It is not known whether individual neurons send projections only to single cortical areas or distribute signals across multiple targets. Here we determine the projection patterns of 591 individual neurons in the mouse primary visual cortex using whole-brain fluorescence-based axonal tracing and high-throughput DNA sequencing of genetically barcoded neurons (MAPseq). Projections were highly diverse and divergent, collectively targeting at least 18 cortical and subcortical areas. Most neurons targeted multiple cortical areas, often in non-random combinations, suggesting that sub-classes of intracortical projection neurons exist. Our results indicate that the dominant mode of intracortical information transfer is not based on 'one neuron-one target area' mapping. Instead, signals carried by individual cortical neurons are shared across subsets of target areas, and thus concurrently contribute to multiple functional pathways.

  1. Molecular and genetic epidemiology of cancer in low- and medium-income countries.

    Science.gov (United States)

    Malhotra, Jyoti

    2014-01-01

    Genetic and molecular factors can play an important role in an individual's cancer susceptibility and response to carcinogen exposure. Cancer susceptibility and response to carcinogen exposure can be either through inheritance of high penetrance but rare germline mutations that constitute heritable cancer syndromes, or it can be inherited as common genetic variations or polymorphisms that are associated with low to moderate risk for development of cancer. These polymorphisms can interact with environmental exposures and can influence an individual's cancer risk through multiple pathways, including affecting the rate of metabolism of carcinogens or the immune response to these toxins. Thus, these genetic polymorphisms can account for some of the geographical differences seen in cancer prevalence between different populations. This review explores the role of molecular epidemiology in the field of cancer prevention and control in low- and medium-income countries. Using data from Human Genome Project and HapMap Project, genome-wide association studies have been able to identify multiple susceptibility loci for different cancers. The field of genetic and molecular epidemiology has been further revolutionized by the discovery of newer, faster, and more efficient DNA-sequencing technologies including next-generation sequencing. The new DNA-sequencing technologies can play an important role in planning and implementation of cancer prevention and screening strategies. More research is needed in this area, especially in investigating new biomarkers and measuring gene-environment interactions. Copyright © 2014 Icahn School of Medicine at Mount Sinai. Published by Elsevier Inc. All rights reserved.

  2. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy.

    Science.gov (United States)

    Harper, Joyce; Geraedts, Joep; Borry, Pascal; Cornel, Martina C; Dondorp, Wybo J; Gianaroli, Luca; Harton, Gary; Milachich, Tanya; Kääriäinen, Helena; Liebaers, Inge; Morris, Michael; Sequeiros, Jorge; Sermon, Karen; Shenfield, Françoise; Skirton, Heather; Soini, Sirpa; Spits, Claudia; Veiga, Anna; Vermeesch, Joris Robert; Viville, Stéphane; de Wert, Guido; Macek, Milan

    2014-08-01

    How has the interface between genetics and assisted reproduction technology (ART) evolved since 2005? The interface between ART and genetics has become more entwined as we increase our understanding about the genetics of infertility and we are able to perform more comprehensive genetic testing. In March 2005, a group of experts from the European Society of Human Genetics and European Society of Human Reproduction and Embryology met to discuss the interface between genetics and ART and published an extended background paper, recommendations and two Editorials. An interdisciplinary workshop was held, involving representatives of both professional societies and experts from the European Union Eurogentest2 Coordination Action Project. In March 2012, a group of experts from the European Society of Human Genetics, the European Society of Human Reproduction and Embryology and the EuroGentest2 Coordination Action Project met to discuss developments at the interface between clinical genetics and ART. As more genetic causes of reproductive failure are now recognized and an increasing number of patients undergo testing of their genome prior to conception, either in regular health care or in the context of direct-to-consumer testing, the need for genetic counselling and PGD may increase. Preimplantation genetic screening (PGS) thus far does not have evidence from RCTs to substantiate that the technique is both effective and efficient. Whole genome sequencing may create greater challenges both in the technological and interpretational domains, and requires further reflection about the ethics of genetic testing in ART and PGD/PGS. Diagnostic laboratories should be reporting their results according to internationally accepted accreditation standards (ISO 15189). Further studies are needed in order to address issues related to the impact of ART on epigenetic reprogramming of the early embryo. The legal landscape regarding assisted reproduction is evolving, but still remains very

  3. Human genetics and genomics a decade after the release of the draft sequence of the human genome

    Science.gov (United States)

    2011-01-01

    Substantial progress has been made in human genetics and genomics research over the past ten years since the publication of the draft sequence of the human genome in 2001. Findings emanating directly from the Human Genome Project, together with those from follow-on studies, have had an enormous impact on our understanding of the architecture and function of the human genome. Major developments have been made in cataloguing genetic variation, the International HapMap Project, and with respect to advances in genotyping technologies. These developments are vital for the emergence of genome-wide association studies in the investigation of complex diseases and traits. In parallel, the advent of high-throughput sequencing technologies has ushered in the 'personal genome sequencing' era for both normal and cancer genomes, and made possible large-scale genome sequencing studies such as the 1000 Genomes Project and the International Cancer Genome Consortium. The high-throughput sequencing and sequence-capture technologies are also providing new opportunities to study Mendelian disorders through exome sequencing and whole-genome sequencing. This paper reviews these major developments in human genetics and genomics over the past decade. PMID:22155605

  4. 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.

  5. Nuclear genetic defects of mitochondrial ATP synthase

    Czech Academy of Sciences Publication Activity Database

    Hejzlarová, Kateřina; Mráček, Tomáš; Vrbacký, Marek; Kaplanová, Vilma; Karbanová, Vendula; Nůsková, Hana; Pecina, Petr; Houštěk, Josef

    2014-01-01

    Roč. 63, Suppl.1 (2014), S57-S71 ISSN 0862-8408 R&D Projects: GA ČR(CZ) GAP303/11/0970; GA ČR GAP303/12/1363; GA MZd(CZ) NT12370; GA MZd(CZ) NT14050 Grant - others:Univerzita Karlova(CZ) 370411 Institutional support: RVO:67985823 Keywords : mitochondrial diseases * TMEM70 * ATPAF1 * ATP5A1 * ATP5E Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.293, year: 2014

  6. A genetic approach to shape reconstruction in limited data tomography

    International Nuclear Information System (INIS)

    Turcanu, C.; Craciunescu, T.

    2001-01-01

    The paper proposes a new method for shape reconstruction in computerized tomography. Unlike nuclear medicine applications, in physical science problems we are often confronted with limited data sets: constraints in the number of projections or limited view angles . The problem of image reconstruction from projection may be considered as a problem of finding an image (solution) having projections that match the experimental ones. In our approach, we choose a statistical correlation coefficient to evaluate the fitness of any potential solution. The optimization process is carried out by a genetic algorithm. The algorithm has some features common to all genetic algorithms but also some problem-oriented characteristics. One of them is that a chromosome, representing a potential solution, is not linear but coded as a matrix of pixels corresponding to a two-dimensional image. This kind of internal representation reflects the genuine manifestation and slight differences between two points situated in the original problem space give rise to similar differences once they become coded. Another particular feature is a newly built crossover operator: the grid-based crossover, suitable for high dimension two-dimensional chromosomes. Except for the population size and the dimension of the cutting grid for the grid-based crossover, all the other parameters of the algorithm are independent of the geometry of the tomographic reconstruction. The performances of the method are evaluated on a phantom typical for an application with limited data sets: the determination of the neutron energy spectra with time resolution in case of short-pulsed neutron emission. A genetic reconstruction is presented. The qualitative judgement and also the quantitative one, based on some figures of merit, point out that the proposed method ensures an improved reconstruction of shapes, sizes and resolution in the image, even in the presence of noise. (authors)

  7. Genetical genomic determinants of alcohol consumption in rats and humans

    Czech Academy of Sciences Publication Activity Database

    Tabakoff, B.; Saba, L.; Printz, M.; Flodman, P.; Hodgkinson, C.; Goldman, D.; Koob, G.; Richardson, H.N.; Kechris, K.; Bell, R.L.; Hübner, N.; Heinig, M.; Pravenec, Michal; Mangion, J.; Legault, L.; Dongier, M.; Conigrave, K.M.; Whitfield, J.B.; Saunders, J.; Grant, B.; Hoffman, P.L.

    2009-01-01

    Roč. 7, - (2009), s. 70-70 ISSN 1741-7007 R&D Projects: GA MŠk(CZ) 1M0520 Grant - others:Howard Hughes Medical Institute(US) 55005624 Institutional research plan: CEZ:AV0Z50110509 Keywords : alcohol consumption * rat * gene expression profiles Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 5.636, year: 2009

  8. Genetic engineering: a matter that requires further refinement in Spanish secondary school textbooks

    Science.gov (United States)

    Martínez-Gracia, M. V.; Gil-Quýlez, M. J.

    2003-09-01

    Genetic engineering is now an integral part of many high school textbooks but little work has been done to assess whether it is being properly addressed. A checklist with 19 items was used to analyze how genetic engineering is presented in biology textbooks commonly used in Spanish high schools, including the content, its relationship with fundamental genetic principles, and how it aims to improve the genetic literacy of students. The results show that genetic engineering was normally introduced without a clear reference to the universal genetic code, protein expression or the genetic material shared by all species. In most cases it was poorly defined, without a clear explanation of all the relevant processes involved. Some procedures (such as vectors) were explained in detail without considering previous student knowledge or skills. Some books emphasized applications such as the human genome project without describing DNA sequencing. All books included possible repercussions, but in most cases only fashionable topics such as human cloning. There was an excess of information that was not always well founded and hence was unsuitable to provide a meaningful understanding of DNA technology required for citizens in the twenty-first century.

  9. My Dog's Cheeks: A PBL Project on Collagen for Cell Biology and Genetics Courses

    Science.gov (United States)

    Casla, Alberto Vicario; Zubiaga, Isabel Smith

    2010-01-01

    Students often have an oversimplified view of biological facts, which may hinder subsequent understanding when conceptual complexity gives rise to cognitive conflicts. To avoid this situation here, we present a PBL approach for the analysis of Ehlers-Danlos syndrome (EDS), which integrates a variety of topics in cell biology, genetics, and…

  10. About Genetic Counselors

    Science.gov (United States)

    ... clinical care in many areas of medicine. Assisted Reproductive Technology/Infertility Genetics Cancer Genetics Cardiovascular Genetics Cystic Fibrosis Genetics Fetal Intervention and Therapy Genetics Hematology Genetics Metabolic Genetics ...

  11. Modeling genetic imprinting effects of DNA sequences with multilocus polymorphism data

    Directory of Open Access Journals (Sweden)

    Staud Roland

    2009-08-01

    Full Text Available Abstract Single nucleotide polymorphisms (SNPs represent the most widespread type of DNA sequence variation in the human genome and they have recently emerged as valuable genetic markers for revealing the genetic architecture of complex traits in terms of nucleotide combination and sequence. Here, we extend an algorithmic model for the haplotype analysis of SNPs to estimate the effects of genetic imprinting expressed at the DNA sequence level. The model provides a general procedure for identifying the number and types of optimal DNA sequence variants that are expressed differently due to their parental origin. The model is used to analyze a genetic data set collected from a pain genetics project. We find that DNA haplotype GAC from three SNPs, OPRKG36T (with two alleles G and T, OPRKA843G (with alleles A and G, and OPRKC846T (with alleles C and T, at the kappa-opioid receptor, triggers a significant effect on pain sensitivity, but with expression significantly depending on the parent from which it is inherited (p = 0.008. With a tremendous advance in SNP identification and automated screening, the model founded on haplotype discovery and statistical inference may provide a useful tool for genetic analysis of any quantitative trait with complex inheritance.

  12. The Qatar genome project: translation of whole-genome sequencing into clinical practice.

    Science.gov (United States)

    Zayed, Hatem

    2016-10-01

    Qatar Genome Project was launched in 2013 with the intent to sequence the genome of each Qatari citizen in an effort to protect Qataris from the high rate of indigenous genetic diseases by allowing the mapping of disease-causing variants/rare variants and establishing a Qatari reference genome. Indeed, this project is expected to have numerous global benefits because the elevated homogeneity of the Qatari population, that will make Qatar an excellent genetic laboratory that will generate a wealth of data that will allow us to make sense of the genotype-phenotype correlations of many diseases, especially the complex multifactorial diseases, and will pave the way for changing the traditional medical practice of looking first at the phenotype rather than the genotype. © 2016 John Wiley & Sons Ltd.

  13. Insights into the genetic structure and diversity of 38 South Asian Indians from deep whole-genome sequencing.

    Directory of Open Access Journals (Sweden)

    Lai-Ping Wong

    2014-05-01

    Full Text Available South Asia possesses a significant amount of genetic diversity due to considerable intergroup differences in culture and language. There have been numerous reports on the genetic structure of Asian Indians, although these have mostly relied on genotyping microarrays or targeted sequencing of the mitochondria and Y chromosomes. Asian Indians in Singapore are primarily descendants of immigrants from Dravidian-language-speaking states in south India, and 38 individuals from the general population underwent deep whole-genome sequencing with a target coverage of 30X as part of the Singapore Sequencing Indian Project (SSIP. The genetic structure and diversity of these samples were compared against samples from the Singapore Sequencing Malay Project and populations in Phase 1 of the 1,000 Genomes Project (1 KGP. SSIP samples exhibited greater intra-population genetic diversity and possessed higher heterozygous-to-homozygous genotype ratio than other Asian populations. When compared against a panel of well-defined Asian Indians, the genetic makeup of the SSIP samples was closely related to South Indians. However, even though the SSIP samples clustered distinctly from the Europeans in the global population structure analysis with autosomal SNPs, eight samples were assigned to mitochondrial haplogroups that were predominantly present in Europeans and possessed higher European admixture than the remaining samples. An analysis of the relative relatedness between SSIP with two archaic hominins (Denisovan, Neanderthal identified higher ancient admixture in East Asian populations than in SSIP. The data resource for these samples is publicly available and is expected to serve as a valuable complement to the South Asian samples in Phase 3 of 1 KGP.

  14. Imaging Genetics and Genomics in Psychiatry: A Critical Review of Progress and Potential.

    Science.gov (United States)

    Bogdan, Ryan; Salmeron, Betty Jo; Carey, Caitlin E; Agrawal, Arpana; Calhoun, Vince D; Garavan, Hugh; Hariri, Ahmad R; Heinz, Andreas; Hill, Matthew N; Holmes, Andrew; Kalin, Ned H; Goldman, David

    2017-08-01

    Imaging genetics and genomics research has begun to provide insight into the molecular and genetic architecture of neural phenotypes and the neural mechanisms through which genetic risk for psychopathology may emerge. As it approaches its third decade, imaging genetics is confronted by many challenges, including the proliferation of studies using small sample sizes and diverse designs, limited replication, problems with harmonization of neural phenotypes for meta-analysis, unclear mechanisms, and evidence that effect sizes may be more modest than originally posited, with increasing evidence of polygenicity. These concerns have encouraged the field to grow in many new directions, including the development of consortia and large-scale data collection projects and the use of novel methods (e.g., polygenic approaches, machine learning) that enhance the quality of imaging genetic studies but also introduce new challenges. We critically review progress in imaging genetics and offer suggestions and highlight potential pitfalls of novel approaches. Ultimately, the strength of imaging genetics and genomics lies in their translational and integrative potential with other research approaches (e.g., nonhuman animal models, psychiatric genetics, pharmacologic challenge) to elucidate brain-based pathways that give rise to the vast individual differences in behavior as well as risk for psychopathology. Copyright © 2017 Society of Biological Psychiatry. All rights reserved.

  15. Genetic variation in house mice (Mus, Muridae, Rodentia) from the Czech and Slovak Republics

    Czech Academy of Sciences Publication Activity Database

    Šugerková, Monika; Munclinger, P.; Božíková, E.; Piálek, Jaroslav; Macholán, Miloš

    2002-01-01

    Roč. 51, č. 2 (2002), s. 81-92 ISSN 0139-7893 R&D Projects: GA AV ČR IAA6045601; GA AV ČR IAA6045902; GA ČR GA206/01/0989; GA AV ČR KSK6005114 Institutional research plan: CEZ:AV0Z5045916 Keywords : house mouse * genetic variation * allozymes Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 0.234, year: 2002 http://www.ivb.cz/folia/51/2/081-092.pdf

  16. Genetic variation in adipokine genes and risk of colorectal cancer

    Czech Academy of Sciences Publication Activity Database

    Pechlivanis, S.; Bermejo, J. L.; Pardini, Barbara; Naccarati, Alessio; Vodičková, Ludmila; Novotný, J.; Hemminki, K.; Vodička, Pavel; Försti, A.

    2009-01-01

    Roč. 160, č. 6 (2009), s. 933-940 ISSN 0804-4643 R&D Projects: GA ČR GA310/07/1430; GA MZd NR8563 Grant - others:EU(SE) LSHC-CT-2004-503465 Institutional research plan: CEZ:AV0Z50390512 Keywords : colorectal cancer * diabetes Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.539, year: 2009

  17. Mouse to human comparative genetics reveals a novel immunoglobulin E-controlling locus on Hsa8q12

    Czech Academy of Sciences Publication Activity Database

    Gusareva, Elena; Havelková, Helena; Blažková, Hana; Kosařová, Marcela; Kučera, P.; Král, V.; Salyakina, D.; Mulller-Myhsok, b.; Lipoldová, Marie

    2009-01-01

    Roč. 61, č. 1 (2009), s. 15-25 ISSN 0093-7711 R&D Projects: GA ČR GA310/06/1745; GA MŠk(CZ) LC06009 Institutional research plan: CEZ:AV0Z50520514 Keywords : atopy * specific IgE * genetic loci * mouse-human homology * Czech population * 8q12 Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.988, year: 2009

  18. Genetic Analysis of the Cardiac Methylome at Single Nucleotide Resolution in a Model of Human Cardiovascular Disease

    Czech Academy of Sciences Publication Activity Database

    Johnson, M.D.; Mueller, M.; Adamowicz-Brice, M.; Collins, M. J.; Gellert, P.; Maratou, K.; Srivastava, P. K.; Rotival, M.; Butt, S.; Game, L.; Atanur, S. S.; Silver, N.; Norsworthy, P. J.; Langley, S. R.; Petretto, E.; Pravenec, Michal; Aitman, T. J.

    2014-01-01

    Roč. 10, č. 12 (2014), e1004813 ISSN 1553-7404 R&D Projects: GA ČR(CZ) GAP301/10/0290; GA MŠk(CZ) LL1204; GA MŠk(CZ) 7E10067 Institutional support: RVO:67985823 Keywords : cardiac methylome * genetic control of CpG methylation * epigenetic * rat Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 8.167, year: 2013

  19. All projects related to | Page 291 | IDRC - International Development ...

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

    ​Reducing malnutrition in India's agri-biodiversity hotspots. Project. Many of India's poor live in rural areas that are heavily dependent on agriculture. Local crops have a rich heritage of genetic diversity, but this diversity is often threatened by government policies that promote rice and wheat cultivation. Start Date: March 1, ...

  20. Environmental and geographic variables are effective surrogates for genetic variation in conservation planning.

    Science.gov (United States)

    Hanson, Jeffrey O; Rhodes, Jonathan R; Riginos, Cynthia; Fuller, Richard A

    2017-11-28

    Protected areas buffer species from anthropogenic threats and provide places for the processes that generate and maintain biodiversity to continue. However, genetic variation, the raw material for evolution, is difficult to capture in conservation planning, not least because genetic data require considerable resources to obtain and analyze. Here we show that freely available environmental and geographic distance variables can be highly effective surrogates in conservation planning for representing adaptive and neutral intraspecific genetic variation. We obtained occurrence and genetic data from the IntraBioDiv project for 27 plant species collected over the European Alps using a gridded sampling scheme. For each species, we identified loci that were potentially under selection using outlier loci methods, and mapped their main gradients of adaptive and neutral genetic variation across the grid cells. We then used the cells as planning units to prioritize protected area acquisitions. First, we verified that the spatial patterns of environmental and geographic variation were correlated, respectively, with adaptive and neutral genetic variation. Second, we showed that these surrogates can predict the proportion of genetic variation secured in randomly generated solutions. Finally, we discovered that solutions based only on surrogate information secured substantial amounts of adaptive and neutral genetic variation. Our work paves the way for widespread integration of surrogates for genetic variation into conservation planning.

  1. The CODATwins Project: The Cohort Description of Collaborative Project of Development of Anthropometrical Measures in Twins to Study Macro-Environmental Variation in Genetic and Environmental Effects on Anthropometric Traits

    NARCIS (Netherlands)

    Silventoinen, K.; Jelenkovic, A.; Sund, R.; Honda, C.; Aaltonen, S.; Yokoyama, Y.; Tarnoki, A.D.; Tarnoki, D.L.; Ning, F.; Ji, F.; Pang, Z.; Ordonana, J.R.; Sanchez-Romera, J.F.; Colodro-Conde, L.; Burt, S.A.; Klump, K.L.; Medland, S.E.; Montgomery, G.W.; Kandler, C.; McAdams, T.A.; Eley, T.C.; Gregory, A.M.; Saudino, K.J.; Dubois, L.; Boivin, M.; Haworth, C.M.A.; Plomin, R.; Oncel, S.Y.; Aliev, F.; Stazi, M.A.; Fagnani, C.; D'Ippolito, C.; Craig, J.M.; Saffery, R.; Siribaddana, S.H.; Hotopf, M.; Sumathipala, A.; Spector, T.; Mangino, M.; Lachance, G.; Gatz, M.; Butler, D.A.; Bayasgalan, G.; Narandalai, D.; Freitas, D.L.; Maia, J.A.; Harden, K.P.; Tucker-Drob, E.M.; Christensen, K.; Skytthe, A.; Kyvik, K.O.; Hong, C.; Chong, Y.; Derom, C.A.; Vlietinck, R.F.; Loos, R.J.F.; Cozen, W.; Hwang, A.E.; Mack, T.M.; He, M.; Ding, X.; Chang, B.; Silberg, J.L.; Eaves, L.J.; Maes, H.H.; Cutler, T.L.; Hopper, J.L.; Aujard, K.; Magnusson, P.K.E.; Pedersen, N.L.; Aslan, A.K.D.; Song, Y.; Yang, S.; Lee, K; Baker, L.A.; Tuvblad, C.; Bjerregaard-Andersen, M.; Beck-Nielsen, H.; Sodemann, M.; Heikkila, K.; Tan, Q.; Zhang, D.; Swan, G.E.; Krasnow, R.; Jang, K.L.; Knafo-Noam, A.; Mankuta, D.; Abramson, L.; Lichtenstein, P.; Krueger, R.F.; McGue, M.; Pahlen, S.; Tynelius, P.; Duncan, G.E.; Buchwald, D.; Corley, R.P.; Huibregtse, B.M.; Nelson, T.L.; Whitfield, K.E.; Franz, C.E.; Kremen, W.S.; Lyons, M.J.; Ooki, S.; Brandt, I.; Nilsen, T.S.; Inui, F.; Watanabe, M.; Bartels, M.; van Beijsterveldt, T.C.E.M.; Wardle, J.; Llewellyn, C.H.; Fisher, A.; Rebato, E.; Martin, N.G.; Iwatani, Y.; Hayakawa, K.; Rasmussen, F.; Sung, J.; Harris, J.R.; Willemsen, G.; Busjahn, A.; Goldberg, J.H.; Boomsma, D.I.; Hur, Y.; Sorensen, T.I.A.; Kaprio, J.

    2015-01-01

    For over 100 years, the genetics of human anthropometric traits has attracted scientific interest. In particular, height and body mass index (BMI, calculated as kg/m2) have been under intensive genetic research. However, it is still largely unknown whether and how heritability estimates vary between

  2. Genetic Diversity of NHE1, Receptor for Subgroup J Avian Leukosis Virus, in Domestic Chicken and Wild Anseriform Species

    Czech Academy of Sciences Publication Activity Database

    Reinišová, Markéta; Plachý, Jiří; Kučerová, Dana; Šenigl, Filip; Vinkler, M.; Hejnar, Jiří

    2016-01-01

    Roč. 11, č. 3 (2016), e0150589-e0150589 E-ISSN 1932-6203 R&D Projects: GA MŠk LO1419; GA ČR GA13-30983S Institutional support: RVO:68378050 Keywords : avian leukosis virus * NHE1 * Genetic Diversity Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.806, year: 2016

  3. Genetic interrelationships of North American populations of giant liver fluke Fascioloides magna

    Czech Academy of Sciences Publication Activity Database

    Bazsalovicsová, E.; Kráľová-Hromadová, I.; Štefka, Jan; Minárik, G.; Bokorová, S.; Pybus, M.

    2015-01-01

    Roč. 8, MAY 28 2015 (2015), s. 288 ISSN 1756-3305 EU Projects: European Commission(XE) 316304 Institutional support: RVO:60077344 Keywords : Trematoda * Fasciolidae * Mitochondrial DNA * Cytochrome c oxidase * Nicotinamide dehydrogenase * Spatial distribution Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.234, year: 2015

  4. Assessment of the safety of foods derived from genetically modified (GM) crops

    NARCIS (Netherlands)

    König, A.; Cockburn, A.; Crevel, R.W.R.; Debruyne, E.; Grafstroem, R.; Hammerling, U.; Kimber, I.; Knudsen, I.; Kuiper, H.A.; Peijnenburg, A.A.C.M.; Penninks, A.H.; Poulsen, M.; Schauzu, M.; Wal, J.M.

    2004-01-01

    This paper provides guidance on how to assess the safety of foods derived from genetically modified crops (GM crops); it summarises conclusions and recommendations of Working Group 1 of the ENTRANSFOOD project. The paper provides an approach for adapting the test strategy to the characteristics of

  5. Genetic diversity and dispersal of Phragmites australis in a small river system

    Czech Academy of Sciences Publication Activity Database

    Fér, T.; Hroudová, Zdenka

    2009-01-01

    Roč. 90, č. 2 (2009), s. 165-171 ISSN 0304-3770 R&D Projects: GA AV ČR KJB6111304 Institutional research plan: CEZ:AV0Z60050516 Keywords : genetic variation * long-distance dispersal * spatial autocorrelation Subject RIV: EF - Botanics Impact factor: 1.697, year: 2009

  6. The social life of genes: privacy, property and the new genetics.

    Science.gov (United States)

    Everett, Margaret

    2003-01-01

    With the advent of the Human Genome Project and widespread fears over human cloning and medical privacy, a number of states have moved to protect genetic privacy. Oregon's unique Genetic Privacy Act of 1995, which declared that an individual had property rights to their DNA, has provoked national and international interest and controversy. This paper critically reviews the literature on genetic privacy and gene patenting from law, philosophy, science and anthropology. The debate in Oregon, from 1995 to 2001, illustrates many of the key issues in this emerging area. Both sides of the debate invoke the property metaphor, reinforcing deterministic assumptions and avoiding more fundamental questions about the integrity of the body and self-identity. The anthropological critique of the commodification of the body, and the concept of 'embodiment' are useful in analyzing the debate over DNA as property.

  7. 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.

  8. Genetic discrimination and personality rights: problems and solutions

    OpenAIRE

    Bandeira, Ana Cláudia Pirajá; UEM; Scariot, Tatiane Botura; UEM

    2007-01-01

    Nowadays, genetic biology is the scientific area that has developed the most, especially due to the Human Genome Project, conferring a new biotechnological appearance to this century. On the one hand, the new biomedical discoveries and achievements nurture humanity’s hope of eliminating incurable diseases in order to increase human life with improved quality. On the other hand, at the same time that science brings countless benefices, it also introduces new ethical-juridical problems related ...

  9. From Genetics to Genetic Algorithms

    Indian Academy of Sciences (India)

    artificial genetic system) string feature or ... called the genotype whereas it is called a structure in artificial genetic ... assigned a fitness value based on the cost function. Better ..... way it has produced complex, intelligent living organisms capable of ...

  10. Resources for human genetics on the World Wide Web.

    Science.gov (United States)

    Osborne, L R; Lee, J R; Scherer, S W

    1997-09-01

    A little over a century ago, the HMS Beagle sailed the Pacific Ocean bringing Charles Darwin to the perfect environment in which to piece together his observations forming the theory of evolution. Now, geneticists and laypeople alike surf the equally formidable waters of the internet in search of enlightenment. Here, we attempt to help you navigate towards resources for human genetics by providing maps to three destinations: The Human Genome Project (Box 1), education (Box 2), and human genetic diseases (Box 3). For each, we highlight a few sites that we consider are the most informative and original. A more extensive list containing other useful sites has been compiled and posted on a 'jump site' at: http:/(/)www.cgdn.generes.ca/.

  11. Host traits explain the genetic structure of parasites: a meta-analysis

    Czech Academy of Sciences Publication Activity Database

    Blasco-Costa, Maria Isabel; Poulin, R.

    2013-01-01

    Roč. 140, č. 10 (2013), s. 1316-1322 ISSN 0031-1820 EU Projects: European Commission(XE) 252124 - PARAPOPGENE Institutional support: RVO:60077344 Keywords : meta-analysis * host traits * parasite traits * F-statistics * population genetic structure * dispersal * autogenic life cycle * allogenic life cycle Subject RIV: EH - Ecology, Behaviour Impact factor: 2.350, year: 2013

  12. Bull Trout Life History, Genetics, Habitat Needs, and Limiting Factors in Central and Northeast Oregon. Annual Report 1996.

    Energy Technology Data Exchange (ETDEWEB)

    Bellerud, Blane L.; Gunckel, Stephanie; Hemmingsen, Alan R.; Buchanan, David V.; Howell, Philip J.

    1997-10-01

    This study is part of a multi-year research project studying aspects of bull trout life history, ecology and genetics. This report covers the activities of the project in 1996. Results and analysis are presented in the following five areas: (1) analysis of the genetic structure of Oregon bull trout populations; (2) distribution and habitat use of bull trout and brook trout in streams containing both species; (3) bull trout spawning surveys; (4) summary and analysis of historical juvenile bull trout downstream migrant trap catches in the Grande Ronde basin; and (5) food habits and feeding behavior of bull trout alone and in sympatry with brook trout.

  13. Bull trout life history, genetics, habitat needs, and limiting factors in Central and Northeast Oregon. Annual report 1996

    International Nuclear Information System (INIS)

    Bellerud, B.L.; Gunkel, S.; Hemmingsen, A.R.; Buchanan, D.V.; Howell, P.J.

    1997-10-01

    This study is part of a multi-year research project studying aspects of bull trout life history, ecology and genetics. This report covers the activities of the project in 1996. Results and analysis are presented in the following five areas: (1) analysis of the genetic structure of Oregon bull trout populations; (2) distribution and habitat use of bull trout and brook trout in streams containing both species; (3) bull trout spawning surveys; (4) summary and analysis of historical juvenile bull trout downstream migrant trap catches in the Grande Ronde basin; and (5) food habits and feeding behavior of bull trout alone and in sympatry with brook trout

  14. A behavioral genetic analysis of callous-unemotional traits and Big Five personality in adolescence.

    Science.gov (United States)

    Mann, Frank D; Briley, Daniel A; Tucker-Drob, Elliot M; Harden, K Paige

    2015-11-01

    Callous-unemotional (CU) traits, such as lacking empathy and emotional insensitivity, predict the onset, severity, and persistence of antisocial behavior. CU traits are heritable, and genetic influences on CU traits contribute to antisocial behavior. This study examines genetic overlap between CU traits and general domains of personality. We measured CU traits using the Inventory of Callous-Unemotional Traits (ICU) and Big Five personality using the Big Five Inventory in a sample of adolescent twins from the Texas Twin Project. Genetic influences on the Big Five personality dimensions could account for the entirety of genetic influences on CU traits. Item Response Theory results indicate that the Inventory of Callous and Unemotional Traits is better at detecting clinically relevant personality variation at lower extremes of personality trait continua, particularly low agreeableness and low conscientiousness. The proximate biological mechanisms that mediate genetic liabilities for CU traits remain an open question. The results of the current study suggest that understanding the development of normal personality may inform understanding of the genetic underpinnings of callous and unemotional behavior. (c) 2015 APA, all rights reserved).

  15. Reverse genetics with animal viruses. NSV reverse genetics

    International Nuclear Information System (INIS)

    Mebatsion, T.

    2005-01-01

    New strategies to genetically manipulate the genomes of several important animal pathogens have been established in recent years. This article focuses on the reverse genetics techniques, which enables genetic manipulation of the genomes of non-segmented negative-sense RNA viruses. Recovery of a negative-sense RNA virus entirely from cDNA was first achieved for rabies virus in 1994. Since then, reverse genetic systems have been established for several pathogens of medical and veterinary importance. Based on the reverse genetics technique, it is now possible to design safe and more effective live attenuated vaccines against important viral agents. In addition, genetically tagged recombinant viruses can be designed to facilitate serological differentiation of vaccinated animals from infected animals. The approach of delivering protective immunogens of different pathogens using a single vector was made possible with the introduction of the reverse genetics system, and these novel broad-spectrum vaccine vectors have potential applications in improving animal health in developing countries. (author)

  16. Mitochondrial DNA confirms low genetic variation of the greater mouse-eared bats, Myotis myotis, in Central Europe

    Czech Academy of Sciences Publication Activity Database

    Bryja, Josef; Uhrin, M.; Kaňuch, P.; Bémová, P.; Martínková, Natália; Zukal, Jan

    2010-01-01

    Roč. 12, č. 1 (2010), s. 73-81 ISSN 1508-1109 R&D Projects: GA ČR GA206/01/1555; GA MŠk LC06073 Grant - others:VEGA(SK) 2/0130/08 Institutional research plan: CEZ:AV0Z60930519 Keywords : genetic structure * mtDNA * control region * phylogeography * Myotis myotis Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.012, year: 2010

  17. GlobAl Distribution of GEnetic Traits (GADGET) web server: polygenic trait scores worldwide.

    Science.gov (United States)

    Chande, Aroon T; Wang, Lu; Rishishwar, Lavanya; Conley, Andrew B; Norris, Emily T; Valderrama-Aguirre, Augusto; Jordan, I King

    2018-05-18

    Human populations from around the world show striking phenotypic variation across a wide variety of traits. Genome-wide association studies (GWAS) are used to uncover genetic variants that influence the expression of heritable human traits; accordingly, population-specific distributions of GWAS-implicated variants may shed light on the genetic basis of human phenotypic diversity. With this in mind, we developed the GlobAl Distribution of GEnetic Traits web server (GADGET http://gadget.biosci.gatech.edu). The GADGET web server provides users with a dynamic visual platform for exploring the relationship between worldwide genetic diversity and the genetic architecture underlying numerous human phenotypes. GADGET integrates trait-implicated single nucleotide polymorphisms (SNPs) from GWAS, with population genetic data from the 1000 Genomes Project, to calculate genome-wide polygenic trait scores (PTS) for 818 phenotypes in 2504 individual genomes. Population-specific distributions of PTS are shown for 26 human populations across 5 continental population groups, with traits ordered based on the extent of variation observed among populations. Users of GADGET can also upload custom trait SNP sets to visualize global PTS distributions for their own traits of interest.

  18. Resource Allocation in a Repetitive Project Scheduling Using Genetic Algorithm

    Science.gov (United States)

    Samuel, Biju; Mathew, Jeeno

    2018-03-01

    Resource Allocation is procedure of doling out or allocating the accessible assets in a monetary way and productive way. Resource allocation is the scheduling of the accessible assets and accessible exercises or activities required while thinking about both the asset accessibility and the total project completion time. Asset provisioning and allocation takes care of that issue by permitting the specialist co-ops to deal with the assets for every individual demand of asset. A probabilistic selection procedure has been developed in order to ensure various selections of chromosomes

  19. Robust Optimization for Time-Cost Tradeoff Problem in Construction Projects

    Directory of Open Access Journals (Sweden)

    Ming Li

    2014-01-01

    Full Text Available Construction projects are generally subject to uncertainty, which influences the realization of time-cost tradeoff in project management. This paper addresses a time-cost tradeoff problem under uncertainty, in which activities in projects can be executed in different construction modes corresponding to specified time and cost with interval uncertainty. Based on multiobjective robust optimization method, a robust optimization model for time-cost tradeoff problem is developed. In order to illustrate the robust model, nondominated sorting genetic algorithm-II (NSGA-II is modified to solve the project example. The results show that, by means of adjusting the time and cost robust coefficients, the robust Pareto sets for time-cost tradeoff can be obtained according to different acceptable risk level, from which the decision maker could choose the preferred construction alternative.

  20. Genetic variants in selenoprotein genes increase risk of colorectal cancer

    Czech Academy of Sciences Publication Activity Database

    Méplan, C.; Hughes, D. J.; Pardini, Barbara; Naccarati, Alessio; Souček, P.; Vodičková, Ludmila; Hlavatá, I.; Vrána, D.; Vodička, Pavel; Hesketh, J. E.

    2010-01-01

    Roč. 31, č. 6 (2010), s. 1074-1079 ISSN 0143-3334 R&D Projects: GA ČR(CZ) GA310/07/1430; GA ČR GP305/09/P194 Grant - others:EU(XE) FP6-505360 Institutional research plan: CEZ:AV0Z50390512 Keywords : colorectal cancer * Selenium Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 5.402, year: 2010

  1. Exploring Genetic Factors Involved in Huntington Disease Age of Onset

    DEFF Research Database (Denmark)

    Valcárcel-Ocete, Leire; Alkorta-Aranburu, Gorka; Iriondo, Mikel

    2015-01-01

    age (motor AO or mAO). Multiple linear regression analyses were performed between genetic variation within 20 candidate genes and eAO or mAO, using DNA and clinical information of 253 HD patients from REGISTRY project. Gene expression analyses were carried out by RT-qPCR with an independent sample......Age of onset (AO) of Huntington disease (HD) is mainly determined by the length of the CAG repeat expansion (CAGexp) in exon 1 of the HTT gene. Additional genetic variation has been suggested to contribute to AO, although the mechanism by which it could affect AO is presently unknown. The aim...... of this study is to explore the contribution of candidate genetic factors to HD AO in order to gain insight into the pathogenic mechanisms underlying this disorder. For that purpose, two AO definitions were used: the earliest age with unequivocal signs of HD (earliest AO or eAO), and the first motor symptoms...

  2. Genetically modified trees: State and perspectives

    Directory of Open Access Journals (Sweden)

    Nonić Marina

    2012-01-01

    Full Text Available Genetically modified trees are the result of modern plant breeding. Its introduction into the environment for experimental purposes or wider cultivation is defined differently from country to country. Public opinion is divided! Conducted research are part of the activities within the COST Action FP0905 „Biosafety of forest transgenic trees”, which aims to collect information and define the scientific attitude on genetically modified trees as a basis for future European Union (EU policy in this field. The collected information refer to eight countries: four EU member states (Italy, Slovenia, Romania and Bulgaria and four countries in the process of pre-accession (Croatia, Montenegro, Serbia and Bosnia and Herzegovina. A comparative analysis involved the state of forest resources (area of forest land and forest cover, forestry legislation, legislation relating to genetically modified organisms and the general public attitude on this issue. The collected information provide a good basis for understanding this issue in order to define a clear scientific attitude as a recommendation. [Acknowledgements. The authors wish to acknowledge the support of the COST Action FP0905 „Biosafety of forest transgenic trees” for assigned STSM and financial support, also special thanks to the Host institution (Tuscany Region - Directorate General in Florence for kind cooperation. The performed research was partially conducted within the Project „Establishment of Wood Plantations Intended for Afforestation of Serbia“ TP 31041

  3. A Tomographic method based on genetic algorithms

    International Nuclear Information System (INIS)

    Turcanu, C.; Alecu, L.; Craciunescu, T.; Niculae, C.

    1997-01-01

    Computerized tomography being a non-destructive and non-evasive technique is frequently used in medical application to generate three dimensional images of objects. Genetic algorithms are efficient, domain independent for a large variety of problems. The proposed method produces good quality reconstructions even in case of very small number of projection angles. It requests no a priori knowledge about the solution and takes into account the statistical uncertainties. The main drawback of the method is the amount of computer memory and time needed. (author)

  4. Genetics of Cd36 and the hypertension metabolic syndrome

    Czech Academy of Sciences Publication Activity Database

    Pravenec, Michal; Kurtz, T. W.

    2002-01-01

    Roč. 22, č. 2 (2002), s. 148-153 ISSN 0270-9295 R&D Projects: GA ČR(CZ) GA301/00/1636; GA MŠk(CZ) LN00A079; GA ČR(CZ) GV204/98/K015 Grant - others:NIHFogarty(US) RO3TW001236 Institutional research plan: CEZ:AV0Z5011922 Keywords : Cd36 Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.176, year: 2002

  5. Genetics of Cd36 and the hypertension metabolic syndrome

    Czech Academy of Sciences Publication Activity Database

    Pravenec, Michal; Kurtz, W. T.

    2002-01-01

    Roč. 22, č. 2 (2002), s. 148-153 ISSN 0270-9295 R&D Projects: GA ČR GV204/98/K015; GA ČR GA301/00/1636; GA MŠk LN00A079 Grant - others:NIHFogarty(US) RO3TW001236 Institutional research plan: CEZ:AV0Z5011922 Keywords : Cd36 Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.176, year: 2002

  6. Genetic improvement of Sesamun indicum through induced mutations

    International Nuclear Information System (INIS)

    Rajput, M.A.; Khan, Z.H.; Jafri, K.A.; Fazal Ali, J.A.

    2001-01-01

    Pakistan is chronically deficient in the production of edible oils. To enhance local production of edible oils, a mutation breeding project entitled ''Genetic improvement of Sesamum indicum through induced mutations'' was initiated for developing high yielding and widely adapted varieties of sesame. Quite a few mutants having earliness, short stature, semi-indehiscence, compact plant type, heavy bearing and high seed yield have been developed. The true breeding mutant lines developed have exhibited impressive yield potential. (author)

  7. 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.

  8. Mouth and fin deformities in common carp: is there a genetic basis?

    Czech Academy of Sciences Publication Activity Database

    Kocour, Martin; Linhart, Otomar; Vandeputte, M.

    2006-01-01

    Roč. 37, 4 (2006), s. 419-422 ISSN 1355-557X R&D Projects: GA MZe(CZ) QF4117 Grant - others:BARRANDE 03218RF; BARRANDE 07508SA Institutional research plan: CEZ:AV0Z50450515 Keywords : common carp Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 1.051, year: 2006

  9. Yakima/Klickitat Fisheries Project Genetic Studies; Yakima/Klickitat Fisheries Project Monitoring and Evaluation Report 1 of 7, 2003-2004 Annual Report.

    Energy Technology Data Exchange (ETDEWEB)

    Busack, Craig A.; Frye, Alice; Kassler, Todd (Washington Department of Fish and Wildlife, Olympia, WA)

    2004-05-01

    Genetic work for 2003, as in previous years, was quite diverse. In chapter 1 we report on the use of DNA microsatellite markers to sex spring chinook collected at Roza. We have learned through comparison of sex determinations at Roza and then at CESRF that sexing green fish on the basis of morphology is somewhat inaccurate, and accurate sexing of fish at Roza is needed to estimate sex ratios of fish on the spawning grounds. Using DNA microsatellite markers, sexing accuracy was high, but not perfect. In chapter 2 we report on new genetic risk concepts currently being developed and their implications for the YKFP spring chinook program. The impact on domestication of gene flow between the natural and hatchery spawning components is now much better understood. It is now possible to compare the risk of different hatchery programs much more quantitatively in the past. Thus, we can now make good predictions of how much less domesticating the Yakima spring chinook supplementation effort is than other programs. In chapter 3 we present the initial results of morphological comparisons of adult (1) hatchery-origin Upper Yakima spring chinook, (2) natural-origin U. Yakima spring chinook, and (3) Naches spring chinook. Canonical variate analysis allowed both sexes of the three groups to be classified correctly with over accuracy. The differences are subtle, but hatchery-origin fish appear to be someone thinner than natural-origin fish. This is consistent with observations of hatchery vs wild morphology in coho. In chapter 4 we describe the ongoing work to refine the Domestication Research/Monitoring Plan. Work for last year included analysis of the impact of HC line precocious males spawning in the wild, development of a misting incubation system for off-site incubation of Naches eggs, and refinement of some aspects of experimental design. The misting incubation system has broad applicability outside the project. The most recent version of the domestication monitoring plan is

  10. Final Report: Bone Mass Inheritance: A Project to Identify the Genetic Regulation of Bone Mass; FINAL

    International Nuclear Information System (INIS)

    Recker, Robert R. M.D.

    2002-01-01

    This project was designed to find human chromosomal locations that contain genes regulating peak bone density. It is part of a whole genome search for those loci,each responsible for at least 15% of the variation in the peak adult bone density. We accomplished this with a sib pair design, combined with simultaneous examination of extended kindreds. This project gave partial support of the recruitment which has now been completed. The project will extend into 2003. During the remainder of the project, a whole genome scan will be performed from the entire cohort of 2226 persons who have DNA archived, followed by linkage analysis. This project will meet the scientific objective leading eventually to expanded options for treating the condition that leads to bone thinning osteoporosis, and potential fractures in aging populations

  11. "What is this genetics, anyway?" Understandings of genetics, illness causality and inheritance among British Pakistani users of genetic services.

    Science.gov (United States)

    Shaw, Alison; Hurst, Jane A

    2008-08-01

    Misconceptions about basic genetic concepts and inheritance patterns may be widespread in the general population. This paper investigates understandings of genetics, illness causality and inheritance among British Pakistanis referred to a UK genetics clinic. During participant observation of genetics clinic consultations and semi-structured interviews in Urdu or English in respondents' homes, we identified an array of environmental, behavioral and spiritual understandings of the causes of medical and intellectual problems. Misconceptions about the location of genetic information in the body and of genetic mechanisms of inheritance were common, reflected the range of everyday theories observed for White British patients and included the belief that a child receives more genetic material from the father than the mother. Despite some participants' conversational use of genetic terminology, some patients had assimilated genetic information in ways that conflict with genetic theory with potentially serious clinical consequences. Additionally, skepticism of genetic theories of illness reflected a rejection of a dominant discourse of genetic risk that stigmatizes cousin marriages. Patients referred to genetics clinics may not easily surrender their lay or personal theories about the causes of their own or their child's condition and their understandings of genetic risk. Genetic counselors may need to identify, work with and at times challenge patients' understandings of illness causality and inheritance.

  12. Transgenic oil palm: production and projection.

    Science.gov (United States)

    Parveez, G K; Masri, M M; Zainal, A; Majid, N A; Yunus, A M; Fadilah, H H; Rasid, O; Cheah, S C

    2000-12-01

    Oil palm is an important economic crop for Malaysia. Genetic engineering could be applied to produce transgenic oil palms with high value-added fatty acids and novel products to ensure the sustainability of the palm oil industry. Establishment of a reliable transformation and regeneration system is essential for genetic engineering. Biolistic was initially chosen as the method for oil palm transformation as it has been the most successful method for monocotyledons to date. Optimization of physical and biological parameters, including testing of promoters and selective agents, was carried out as a prerequisite for stable transformation. This has resulted in the successful transfer of reporter genes into oil palm and the regeneration of transgenic oil palm, thus making it possible to improve the oil palm through genetic engineering. Besides application of the Biolistics method, studies on transformation mediated by Agrobacterium and utilization of the green fluorescent protein gene as a selectable marker gene have been initiated. Upon the development of a reliable transformation system, a number of useful targets are being projected for oil palm improvement. Among these targets are high-oleate and high-stearate oils, and the production of industrial feedstock such as biodegradable plastics. The efforts in oil palm genetic engineering are thus not targeted as commodity palm oil. Due to the long life cycle of the palm and the time taken to regenerate plants in tissue culture, it is envisaged that commercial planting of transgenic palms will not occur any earlier than the year 2020.

  13. Are Associations between Parental Divorce and Children's Adjustment Genetically Mediated? An Adoption Study.

    Science.gov (United States)

    O'Connor, Thomas G.; Caspi, Avshalom; DeFries, John C.; Plomin, Robert

    2000-01-01

    Data from Colorado Adoption Project were used to examine hypothesis that association between parental divorce and children's adjustment is mediated by genetic factors. Findings for psychopathology were consistent with an environmentally mediated explanation for the association. Findings for achievement and social adjustment were consistent with a…

  14. Communicating Knowledge of Plant Genetic Resources to the Public

    DEFF Research Database (Denmark)

    Windfeldt, Louise

    This thesis analyses how knowledge of plant genetic resources was communicated to the public through demonstration-projects in a governmental grant-scheme, which was part of the EU Rural Development Programme 2007 to 2013. The grant-receivers were museums and other Informal Learning Environments....... Three studies were made using frameworks from educational research, communication theory, and network theory: At first an analysis of the conditions influencing the formulation of the grant-scheme was made, secondly a study of the grant-receivers’ communication was conducted, and finally the cooperation......, and their diversity as well as cooperation between them were found to enhance the potential of learning and learners. Recommendations are given to the work with plant genetic resources: It is important that international strategies and an overall national programme govern the conservation, growing and development...

  15. The genetic interaction network of CCW12, a Saccharomyces cerevisiae gene required for cell wall integrity during budding and formation of mating projections

    Science.gov (United States)

    2011-01-01

    Background Mannoproteins construct the outer cover of the fungal cell wall. The covalently linked cell wall protein Ccw12p is an abundant mannoprotein. It is considered as crucial structural cell wall component since in baker's yeast the lack of CCW12 results in severe cell wall damage and reduced mating efficiency. Results In order to explore the function of CCW12, we performed a Synthetic Genetic Analysis (SGA) and identified genes that are essential in the absence of CCW12. The resulting interaction network identified 21 genes involved in cell wall integrity, chitin synthesis, cell polarity, vesicular transport and endocytosis. Among those are PFD1, WHI3, SRN2, PAC10, FEN1 and YDR417C, which have not been related to cell wall integrity before. We correlated our results with genetic interaction networks of genes involved in glucan and chitin synthesis. A core of genes essential to maintain cell integrity in response to cell wall stress was identified. In addition, we performed a large-scale transcriptional analysis and compared the transcriptional changes observed in mutant ccw12Δ with transcriptomes from studies investigating responses to constitutive or acute cell wall damage. We identified a set of genes that are highly induced in the majority of the mutants/conditions and are directly related to the cell wall integrity pathway and cell wall compensatory responses. Among those are BCK1, CHS3, EDE1, PFD1, SLT2 and SLA1 that were also identified in the SGA. In contrast, a specific feature of mutant ccw12Δ is the transcriptional repression of genes involved in mating. Physiological experiments substantiate this finding. Further, we demonstrate that Ccw12p is present at the cell periphery and highly concentrated at the presumptive budding site, around the bud, at the septum and at the tip of the mating projection. Conclusions The combination of high throughput screenings, phenotypic analyses and localization studies provides new insight into the function of Ccw

  16. Individual genetic variations related to satiety and appetite control increase risk of obesity in preschool-age children in the STRONG kids program.

    Science.gov (United States)

    Wang, Yingying; Wang, Anthony; Donovan, Sharon M; Teran-Garcia, Margarita

    2013-01-01

    The burden of the childhood obesity epidemic is well recognized; nevertheless, the genetic markers and gene-environment interactions associated with the development of common obesity are still unknown. In this study, candidate genes associated to satiety and appetite control pathways with obesity-related traits were tested in Caucasian preschoolers from the STRONG Kids project. Eight genetic variants in genes related to obesity (BDNF, LEPR, FTO, PCSK1, POMC, TUB, LEP, and MC4R) were genotyped in 128 children from the STRONG Kids project (mean age 39.7 months). Data were analyzed for individual associations and to test for genetic predisposition scores (GPSs) with body mass index (BMI) and anthropometric traits (Z-scores, e.g. height-for-age Z-score, HAZ). Covariates included age, sex, and breastfeeding (BF) duration. Obesity and overweight prevalence was 6.3 and 19.5%, respectively, according to age- and sex-specific BMI percentiles. Individual genetic associations of MC4R and LEPR markers with HAZ were strengthened when BF duration was included as a covariate. Our GPSs show that, as the number of risk alleles increased, the risk of higher BMI and HAZ also increased. Overall, the GPSs assembled were able to explain 2-3% of the variability in BMI and HAZ phenotypes. Genetic associations with common obesity-related phenotypes were found in the STRONG Kids project. GPSs assembled for specific candidate genes were associated with BMI and HAZ phenotypes. © 2013 S. Karger AG, Basel.

  17. A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project

    NARCIS (Netherlands)

    Carithers, Latarsha J.; Ardlie, Kristin; Barcus, Mary; Branton, Philip A.; Britton, Angela; Buia, Stephen A.; Compton, Carolyn C.; Deluca, David S.; Peter-Demchok, Joanne; Gelfand, Ellen T.; Guan, Ping; Korzeniewski, Greg E.; Lockhart, Nicole C.; Rabiner, Chana A.; Rao, Abhi K.; Robinson, Karna L.; Roche, Nancy V.; Sawyer, Sherilyn J.; Segrè, Ayellet V.; Shive, Charles E.; Smith, Anna M.; Sobin, Leslie H.; Undale, Anita H.; Valentino, Kimberly M.; Vaught, Jim; Young, Taylor R.; Moore, Helen M.; Barker, Laura; Basile, Margaret; Battle, Alexis; Boyer, Joy; Bradbury, Debra; Bridge, Jason P.; Brown, Amanda; Burges, Robin; Choi, Christopher; Colantuoni, Deborah; Cox, Nancy; Dermitzakis, Emmanouil T.; Derr, Leslie K.; Dinsmore, Michael J.; Erickson, Kenyon; Fleming, Johnelle; Flutre, Timothée; Foster, Barbara A.; Gamazon, Eric R.; Getz, Gad; Gillard, Bryan M.; Guigo, Roderic; Hambright, Kenneth W.; Hariharan, Pushpa; Hasz, Rick; Im, Hae K.; Jewell, Scott; Karasik, Ellen; Kellis, Manolis; Kheradpour, Pouya; Koester, Susan; Koller, Daphne; Konkashbaev, Anuar; Lappalainen, Tuuli; Little, Roger; Liu, Jun; Lo, Edmund; Lonsdale, John T.; Lu, Chunrong; MacArthur, Daniel G.; Magazine, Harold; Maller, Julian B.; Marcus, Yvonne; Mash, Deborah C.; McCarthy, Mark I.; McLean, Jeffrey; Mestichelli, Bernadette; Miklos, Mark; Monlong, Jean; Mosavel, Magboeba; Moser, Michael T.; Mostafavi, Sara; Nicolae, Dan L.; Pritchard, Jonathan; Qi, Liqun; Ramsey, Kimberly; Rivas, Manuel A.; Robles, Barnaby E.; Rohrer, Daniel C.; Salvatore, Mike; Sammeth, Michael; Seleski, John; Shad, Saboor; Siminoff, Laura A.; Stephens, Matthew; Struewing, Jeff; Sullivan, Timothy; Sullivan, Susan; Syron, John; Tabor, David; Taherian, Mehran; Tejada, Jorge; Temple, Gary F.; Thomas, Jeffrey A.; Thomson, Alexander W.; Tidwell, Denee; Traino, Heather M.; Tu, Zhidong; Valley, Dana R.; Volpi, Simona; Walters, Gary D.; Ward, Lucas D.; Wen, Xiaoquan; Winckler, Wendy; Wu, Shenpei; Zhu, Jun

    2015-01-01

    The Genotype-Tissue Expression (GTEx) project, sponsored by the NIH Common Fund, was established to study the correlation between human genetic variation and tissue-specific gene expression in non-diseased individuals. A significant challenge was the collection of high-quality biospecimens for

  18. Characterizing Clinical Genetic Counselors' Countertransference Experiences: an Exploratory Study.

    Science.gov (United States)

    Reeder, Rebecca; Veach, Patricia McCarthy; MacFarlane, Ian M; LeRoy, Bonnie S

    2017-10-01

    Countertransference (CT) refers to conscious and unconscious emotions, fantasies, behaviors, perceptions, and psychological defenses genetic counselors experience in response to any aspect of genetic counseling situations (Weil 2010). Some authors theorize about the importance of recognizing and managing CT, but no studies solely aim to explore genetic counselors' experiences of the phenomenon. This study examined the extent to which clinical genetic counselors' perceive themselves as inclined to experience CT, gathered examples of CT encountered in clinical situations, and assessed their CT management strategies. An anonymous online survey, sent to NSGC members, yielded 127 usable responses. Participants completed Likert-type items rating their CT propensities; 57 of these individuals also provided examples of CT they experienced in their practice. Factor analysis of CT propensities tentatively suggested four factors: Control, Conflict Avoidance, Directiveness, and Self-Regulation, accounting for 38.5% of response variance. Thematic analysis of CT examples yielded five common triggers: general similarity to patient, medical/genetic similarity, angry patients, patient behaves differently from counselor expectations, and disclosing bad news; six common manifestations: being self-focused, projecting feelings onto the patient, intense emotional reaction to patient, being overly invested, disengagement, and physical reaction; five CT effects: disruption in rapport building, repaired empathy, over-identification, conversation does not reach fullest potential, and counselor is drained emotionally; and three management strategies: recognizing CT as it occurs, self-reflection, and consultation. Results suggest CT is a common experience, occurring in both "routine" and emotionally complex cases. Training programs, continuing education, and peer supervision might include discussion of CT, informed by examples from the present study, to increase genetic counselor awareness

  19. Trait variation and genetic diversity in a banana genomic selection training population

    Czech Academy of Sciences Publication Activity Database

    Nyine, Moses; Uwimana, B.; Swennen, R.; Batte, M.; Brown, A.; Christelová, Pavla; Hřibová, Eva; Lorenzen, J.; Doležel, Jaroslav

    2017-01-01

    Roč. 12, č. 6 (2017), č. článku e0178734. E-ISSN 1932-6203 R&D Projects: GA MŠk(CZ) LO1204 Institutional support: RVO:61389030 Keywords : PLANTAIN MUSA * AAB GROUP * IMPROVEMENT Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Plant sciences, botany Impact factor: 2.806, year: 2016

  20. Genetically enhanced asynapsis of autosomal chromatin promotes transcriptional dysregulation and meiotic failure

    Czech Academy of Sciences Publication Activity Database

    Homolka, David; Jansa, Petr; Forejt, Jiří

    2012-01-01

    Roč. 121, č. 1 (2012), s. 91-104 ISSN 0009-5915 R&D Projects: GA MŠk(CZ) LD11079 Institutional research plan: CEZ:AV0Z50520514 Keywords : meiotic silencing of unsynapsed chromatin * meiotic sex chromosome inactivation * autosomal translocation Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.340, year: 2012

  1. Mutation studies upon spermatogonial stem cells of mammals and genetic tests for non-disjunction in the mouse

    International Nuclear Information System (INIS)

    Cattanach, B.M.

    1993-01-01

    Studies upon strain differences in genetic response to radiation may facilitate extrapolation of mouse data to man. The objective of the project is to investigate the basis of the genetic responses obtained with different treatment regimes. Two systems of genetic (complementation) tests were developed using Robertsonian translocations in tester animals to detect non-disjunction and chromosome loss events in normal mice. The aim is to evaluate the two methods for detecting chromosome 11 loss, and compare the frequency of chromosomes 11 and 13 loss following X-irradiation of males and females. (R.P.) 6 refs., 3 tabs

  2. 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.

  3. An incremental procedure model for e-learning projects at universities

    Directory of Open Access Journals (Sweden)

    Pahlke, Friedrich

    2006-11-01

    Full Text Available E-learning projects at universities are produced under different conditions than in industry. The main characteristic of many university projects is that these are realized quasi in a solo effort. In contrast, in private industry the different, interdisciplinary skills that are necessary for the development of e-learning are typically supplied by a multimedia agency.A specific procedure tailored for the use at universities is therefore required to facilitate mastering the amount and complexity of the tasks.In this paper an incremental procedure model is presented, which describes the proceeding in every phase of the project. It allows a high degree of flexibility and emphasizes the didactical concept – instead of the technical implementation. In the second part, we illustrate the practical use of the theoretical procedure model based on the project “Online training in Genetic Epidemiology”.

  4. Safety assessment, detection and traceability, and societal aspects of genetically modified foods. European Network on Safety Assessment of Genetically Modified Food Crops (ENTRANSFOOD). Concluding remarks.

    Science.gov (United States)

    Kuiper, H A; König, A; Kleter, G A; Hammes, W P; Knudsen, I

    2004-07-01

    The most important results from the EU-sponsored ENTRANSFOOD Thematic Network project are reviewed, including the design of a detailed step-wise procedure for the risk assessment of foods derived from genetically modified crops based on the latest scientific developments, evaluation of topical risk assessment issues, and the formulation of proposals for improved risk management and public involvement in the risk analysis process. Copyright 2004 Elsevier Ltd.

  5. The use of genetic methods to study Eurasian otters

    Czech Academy of Sciences Publication Activity Database

    Hájková, Petra; Gettová, Lenka; Sládkovičová, V.; Zemanová, Barbora

    Supp., - (2011), s. 102 ISSN 0394-1914. [International Otter Colloquium /11./. 30.08.2011-04.09.2011, Pavia] R&D Projects: GA AV ČR KJB600930804; GA MŽP SP/2D4/16/08; GA ČR GA206/03/0757 Institutional research plan: CEZ:AV0Z60930519 Keywords : Eurasian otter * genetic analyses Subject RIV: EG - Zoology http://www.internationalottercolloquium2010.eu/files/proceedings_iucn_xi_ioc_2011.pdf

  6. Pleiotropy of genetic variants on obesity and smoking phenotypes

    DEFF Research Database (Denmark)

    Wang, Tao; Moon, Jee-Young; Wu, Yiqun

    2017-01-01

    ) consortium data and calculated a BMI genetic risk score (BMI-GRS) for 17,037 individuals of European descent from the Oncoarray Project of the International Lung Cancer Consortium (ILCCO). Smokers had a significantly higher BMI-GRS than never-smokers (p = 0.016 and 0.010 before and after adjustment for BMI......, respectively). The BMI-GRS was also positively correlated with pack-years of smoking (p... associated with smoking status and pack-years (p

  7. The Collaborative Cross, a community resource for the genetic analysis of complex traits

    Czech Academy of Sciences Publication Activity Database

    Churchill, G. A.; Airey, D. C.; Allayee, H.; Angel, J. M.; Attie, A. D.; Beatty, J.; Beavis, W. D.; Belknap, J. K.; Bennett, B.; Berrettini, W.; Bleich, A.; Bogue, M.; Broman, K. W.; Buck, K. J.; Buckler, E.; Burmeister, M.; Chesler, E. J.; Cheverud, J. M.; Clapcote, S.; Cook, M. N.; Cox, R. D.; Crabbe, J. C.; Crusio, W. E.; Darvasi, A.; Deschepper, C. F.; Doerge, R. W.; Farber, C. R.; Forejt, Jiří; Gaile, D.; Garlow, S. J.; Geiger, H.; Gershenfeld, H.; Gordon, T.; Gu, J.; Gu, W.; de Haan, G.; Hayes, N. L.; Heller, C.; Himmelbauer, H.; Hitzemann, R.; Hunter, K.; Hsu, H. C.; Iraqi, F. A.; Ivandic, B.; Jacob, H. J.; Jansen, R. C.; Jepsen, K. J.; Johnson, D. K.; Johnson, T. E.; Kempermann, G.; Kendziorski, C.; Kotb, M.; Kooy, R. F.; Llamas, B.; Lammert, F.; Lassalle, J. M.; Lowenstein, P. R.; Lu, L.; Lusis, A.; Manly, K. F.; Marcucio, R.; Matthews, D.; Medrano, J. F.; Miller, D. R.; Mittleman, G.; Mock, B. A.; Mogil, J. S.; Montagutelli, X.; Morahan, G.; Morris, D. G.; Mott, R.; Nadeau, J. H.; Nagase, H.; Nowakowski, R. S.; O'Hara, B. F.; Osadchuk, A. V.; Page, G. P.; Paigen, B.; Paigen, K.; Palmer, A. A.; Pan, H. J.; Peltonen-Palotie, L.; Peirce, J.; Pomp, D.; Pravenec, Michal; Prows, D. R.; Qi, Z.; Reeves, R. H.; Roder, J.; Rosen, G. D.; Schadt, E. E.; Schalkwyk, L. C.; Seltzer, Z.; Shimomura, K.; Shou, S.; Sillanpää, M. J.; Siracusa, L. D.; Snoeck, H. W.; Spearow, J. L.; Svenson, K.; Tarantino, L. M.; Threadgill, D.; Toth, L. A.; Valdar, W.; de Villena, F. P.; Warden, C.; Whatley, S.; Williams, R. W.; Wiltshire, T.; Yi, N.; Zhang, D.; Zhang, M.; Zou, F.

    2004-01-01

    Roč. 36, - (2004), s. 1133-1137 ISSN 1061-4036 R&D Projects: GA MŠk(CZ) LN00A079 Institutional research plan: CEZ:AV0Z5052915 Keywords : development of resources * common reference panel Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 24.695, year: 2004

  8. [Current options of preimplantion genetic screening and preimplantation genetic diagnostics].

    Science.gov (United States)

    Šimečková, V

    The aim of this work is to summarize the current knowledge about preimplantation genetic screening and diagnostics. A review article. Department of Gynecology and Obstetrics, District Hospital Šternberk, IVF Clinic, Olomouc. Preimplantation genetic testing is a complex of genetic and molecular cytogenetic examinations, which can help to detect abnormalities in embryos before transfer into the uterus of the mother. These specialized examinations are based on the latest findings in genetics and assisted reproduction. The preimplantation genetic testing is necessarily associated with a method of in vitro fertilization. It is performed on isolated blastomeres on the third day of embryo cultivation. Nowadays, it is preferred trophectoderm examination of cells from the five-day blastocysts. Generally speaking, after preimplantation genetic testing, we can select only embryos without genetic load to transfer into uterus. Preimplantation genetic testing is an important part of treatment of infertility. Complex diagnostics and treatment of infertile couples are increasingly influenced by the development and use of advanced genomic technologies. Further development and application of these modern methods require close cooperation between the field of assisted reproduction and clinical genetics.

  9. The New Face of Genetics: Creating A Multimedia Educational Tool for the Twenty-First Century

    Science.gov (United States)

    Fan, Audrey

    In the study of certain genetic conditions, it is important to understand the specific "dysmorphology" associated with them. This describes the unique anatomical manifestations of the genetic condition. Traditionally, students learn about dysmorphology by reading text descriptions or looking at photographs of affected individuals. The New Face of Genetics is a film project that aims to teach students dysmorphology by featuring people who have specific genetic conditions. The goal is to enhance students' understanding of these conditions as well as to impart the humanity and beauty of the people who appear in the film. Students will have the opportunity to see dysmorphic features on the animated human form as well as meet individuals who are living with genetic difference. The target audience includes genetic counseling students and other medical professionals. Three short films were made in this format to demonstrate how this type of educational tool can be made. The featured conditions were Marfan syndrome, Sturge-Weber syndrome and Joubert syndrome. Future work will be carried out by other genetic counseling students who will make additional films based on our templates. A compendium of approximately 20 films will be eventually completed and released to genetic counseling programs and medical schools.

  10. 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 ...

  11. Genetic Augmentation of Syringyl Lignin in Low-lignin Aspen Trees, Final Report

    Energy Technology Data Exchange (ETDEWEB)

    Chung-Jui Tsai; Mark F. Davis; Vincent L. Chiang

    2004-11-10

    As a polysaccharide-encrusting component, lignin is critical to cell wall integrity and plant growth but also hinders recovery of cellulose fibers during the wood pulping process. To improve pulping efficiency, it is highly desirable to genetically modify lignin content and/or structure in pulpwood species to maximize pulp yields with minimal energy consumption and environmental impact. This project aimed to genetically augment the syringyl-to-guaiacyl lignin ratio in low-lignin transgenic aspen in order to produce trees with reduced lignin content, more reactive lignin structures and increased cellulose content. Transgenic aspen trees with reduced lignin content have already been achieved, prior to the start of this project, by antisense downregulation of a 4-coumarate:coenzyme A ligase gene (Hu et al., 1999 Nature Biotechnol 17: 808- 812). The primary objective of this study was to genetically augment syringyl lignin biosynthesis in these low-lignin trees in order to enhance lignin reactivity during chemical pulping. To accomplish this, both aspen and sweetgum genes encoding coniferaldehyde 5-hydroxylase (Osakabe et al., 1999 PNAS 96: 8955-8960) were targeted for over-expression in wildtype or low-lignin aspen under control of either a constitutive or a xylem-specific promoter. A second objective for this project was to develop reliable and cost-effective methods, such as pyrolysis Molecular Beam Mass Spectrometry and NMR, for rapid evaluation of cell wall chemical components of transgenic wood samples. With these high-throughput techniques, we observed increased syringyl-to-guaiacyl lignin ratios in the transgenic wood samples, regardless of the promoter used or gene origin. Our results confirmed that the coniferaldehyde 5-hydroxylase gene is key to syringyl lignin biosynthesis. The outcomes of this research should be readily applicable to other pulpwood species, and promise to bring direct economic and environmental benefits to the pulp and paper industry.

  12. Genetic Algorithms for the Optimization of Chemical Processes Based on Problem Descriptions

    Czech Academy of Sciences Publication Activity Database

    Holeňa, Martin; Rodemerck, U.; Čukić, T.; Linke, D.; Dingerdissen, U.

    2007-01-01

    Roč. 6, č. 4 (2007), s. 615-621 ISSN 1109-2769 R&D Projects: GA ČR GA201/05/0325 Institutional research plan: CEZ:AV0Z10300504 Keywords : computer applications in chemistry * optimization methods * empirical objective function * genetic algorithms * problem-tailoring * formal description language * program generator Subject RIV: IN - Informatics, Computer Science

  13. Genetic Engineering and the Amelioration of Genetic Defect

    Science.gov (United States)

    Lederberg, Joshua

    1970-01-01

    Discusses the claims for a brave new world of genetic manipulation" and concludes that if we could agree upon applying genetic (or any other effective) remedies to global problems we probably would need no rescourse to them. Suggests that effective methods of preventing genetic disease are prevention of mutations and detection and…

  14. New and emerging technologies for genetic toxicity testing.

    Science.gov (United States)

    Lynch, Anthony M; Sasaki, Jennifer C; Elespuru, Rosalie; Jacobson-Kram, David; Thybaud, Véronique; De Boeck, Marlies; Aardema, Marilyn J; Aubrecht, Jiri; Benz, R Daniel; Dertinger, Stephen D; Douglas, George R; White, Paul A; Escobar, Patricia A; Fornace, Albert; Honma, Masamitsu; Naven, Russell T; Rusling, James F; Schiestl, Robert H; Walmsley, Richard M; Yamamura, Eiji; van Benthem, Jan; Kim, James H

    2011-04-01

    The International Life Sciences Institute (ILSI) Health and Environmental Sciences Institute (HESI) Project Committee on the Relevance and Follow-up of Positive Results in In Vitro Genetic Toxicity (IVGT) Testing established an Emerging Technologies and New Strategies Workgroup to review the current State of the Art in genetic toxicology testing. The aim of the workgroup was to identify promising technologies that will improve genotoxicity testing and assessment of in vivo hazard and risk, and that have the potential to help meet the objectives of the IVGT. As part of this initiative, HESI convened a workshop in Washington, DC in May 2008 to discuss mature, maturing, and emerging technologies in genetic toxicology. This article collates the abstracts of the New and Emerging Technologies Workshop together with some additional technologies subsequently considered by the workgroup. Each abstract (available in the online version of the article) includes a section addressed specifically to the strengths, weaknesses, opportunities, and threats associated with the respective technology. Importantly, an overview of the technologies and an indication of how their use might be aligned with the objectives of IVGT are presented. In particular, consideration was given with regard to follow-up testing of positive results in the standard IVGT tests (i.e., Salmonella Ames test, chromosome aberration assay, and mouse lymphoma assay) to add weight of evidence and/or provide mechanism of action for improved genetic toxicity risk assessments in humans. Copyright © 2010 Wiley-Liss, Inc.

  15. Genetic susceptibility to infectious disease: lessons from mouse models of leishmaniasis

    Czech Academy of Sciences Publication Activity Database

    Lipoldová, Marie; Demant, P.

    2006-01-01

    Roč. 7, č. 4 (2006), s. 294-305 ISSN 1471-0056 R&D Projects: GA ČR(CZ) GA310/03/1381 Grant - others:Howard Hughes Medical Institute(US) HHMI55000323 Institutional research plan: CEZ:AV0Z50520514 Keywords : leishmaniasis * susceptibility to infectious disease * modifying genes Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 22.947, year: 2006

  16. 50. Brazilian congress on genetics. 50 years developing genetics. Abstracts

    International Nuclear Information System (INIS)

    2004-01-01

    Use of radioisotopes and ionizing radiations in genetics is presented. Several aspects related to men, animals,plants and microorganisms are reported highlighting biological radiation effects, evolution, mutagenesis and genetic engineering. Genetic mapping, gene mutations, genetic diversity, DNA damages, plant cultivation and plant grow are studied as well

  17. Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa

    NARCIS (Netherlands)

    Duncan, Laramie; Yilmaz, Zeynep; Gaspar, Helena; Walters, Raymond K.; Goldstein, Jackie; Anttila, Verneri; Bulik-Sullivan, Brendan; Ripke, Stephan; Thornton, Laura M.; Hinney, Anke; Daly, Mark J.; Sullivan, Patrick F; Zeggini, Eleftheria; Breen, Gerome; Bulik, Cynthia M.; Adan, RAH

    2017-01-01

    Objective: The authors conducted a genome-wide association study of anorexia nervosa and calculated genetic correlations with a series of psychiatric, educational, and metabolic phenotypes. Method: Following uniformquality control and imputation procedures using the 1000 Genomes Project (phase 3) in

  18. Significant locus and metabolic genetic correlations revealed in genome-wide association study of anorexia nervosa

    NARCIS (Netherlands)

    Duncan, Laramie; Yilmaz, Zeynep; Gaspar, Helena; Walters, Raymond; Goldstein, Jackie; Anttila, Verneri; Bulik-Sullivan, Brendan; Ripke, Stephan; Thornton, Laura; Hinney, Anke; Daly, Mark; Sullivan, Patrick F; Zeggini, Eleftheria; Breen, Gerome; Bulik, Cynthia M; Kas, Martinus J.H.

    2017-01-01

    OBJECTIVE: The authors conducted a genome-wide association study of anorexia nervosa and calculated genetic correlations with a series of psychiatric, educational, and metabolic phenotypes. METHOD: Following uniform quality control and imputation procedures using the 1000 Genomes Project (phase 3)

  19. Wetlands explain most in the genetic divergence pattern of Oncomelania hupensis.

    Science.gov (United States)

    Liang, Lu; Liu, Yang; Liao, Jishan; Gong, Peng

    2014-10-01

    Understanding the divergence patterns of hosts could shed lights on the prediction of their parasite transmission. No effort has been devoted to understand the drivers of genetic divergence pattern of Oncomelania hupensis, the only intermediate host of Schistosoma japonicum. Based on a compilation of two O. hupensis gene datasets covering a wide geographic range in China and an array of geographical distance and environmental dissimilarity metrics built from earth observation data and ecological niche modeling, we conducted causal modeling analysis via simple, partial Mantel test and local polynomial fitting to understand the interactions among isolation-by-distance, isolation-by-environment, and genetic divergence. We found that geography contributes more to genetic divergence than environmental isolation, and among all variables involved, wetland showed the strongest correlation with the genetic pairwise distances. These results suggested that in China, O. hupensis dispersal is strongly linked to the distribution of wetlands, and the current divergence pattern of both O. hupensis and schistosomiasis might be altered due to the changed wetland pattern with the accomplishment of the Three Gorges Dam and the South-to-North water transfer project. Copyright © 2014 Elsevier B.V. All rights reserved.

  20. Connecting the Human Variome Project to nutrigenomics.

    Science.gov (United States)

    Kaput, Jim; Evelo, Chris T; Perozzi, Giuditta; van Ommen, Ben; Cotton, Richard

    2010-12-01

    Nutrigenomics is the science of analyzing and understanding gene-nutrient interactions, which because of the genetic heterogeneity, varying degrees of interaction among gene products, and the environmental diversity is a complex science. Although much knowledge of human diversity has been accumulated, estimates suggest that ~90% of genetic variation has not yet been characterized. Identification of the DNA sequence variants that contribute to nutrition-related disease risk is essential for developing a better understanding of the complex causes of disease in humans, including nutrition-related disease. The Human Variome Project (HVP; http://www.humanvariomeproject.org/) is an international effort to systematically identify genes, their mutations, and their variants associated with phenotypic variability and indications of human disease or phenotype. Since nutrigenomic research uses genetic information in the design and analysis of experiments, the HVP is an essential collaborator for ongoing studies of gene-nutrient interactions. With the advent of next generation sequencing methodologies and the understanding of the undiscovered variation in human genomes, the nutrigenomic community will be generating novel sequence data and results. The guidelines and practices of the HVP can guide and harmonize these efforts.

  1. Genetics educational needs in China: physicians' experience and knowledge of genetic testing.

    Science.gov (United States)

    Li, Jing; Xu, Tengda; Yashar, Beverly M

    2015-09-01

    The aims of this study were to explore the relationship between physicians' knowledge and utilization of genetic testing and to explore genetics educational needs in China. An anonymous survey about experience, attitudes, and knowledge of genetic testing was conducted among physicians affiliated with Peking Union Medical College Hospital during their annual health evaluation. A personal genetics knowledge score was developed and predictors of personal genetics knowledge score were evaluated. Sixty-four physicians (33% male) completed the survey. Fifty-eight percent of them had used genetic testing in their clinical practice. Using a 4-point scale, mean knowledge scores of six common genetic testing techniques ranged from 1.7 ± 0.9 to 2.4 ± 1.0, and the average personal genetics knowledge score was 2.1 ± 0.8. In regression analysis, significant predictors of higher personal genetics knowledge score were ordering of genetic testing, utilization of pedigrees, higher medical degree, and recent genetics training (P education. This study demonstrated a sizable gap between Chinese physicians' knowledge and utilization of genetic testing. Participants had high self-perceived genetics educational needs. Development of genetics educational platforms is both warranted and desired in China.Genet Med 17 9, 757-760.

  2. The human Genome project and the future of oncology

    International Nuclear Information System (INIS)

    Collins, Francis S.

    1996-01-01

    The Human Genome Project is an ambitious 15-year effort to devise maps and sequence of the 3-billion base pair human genome, including all 100,000 genes. The project is running ahead of schedule and under budget. Already the effects on progress in disease gene discovery have been dramatic, especially for cancer. The most appropriate uses of susceptibility testing for breast, ovarian, and colon cancer are being investigated in research protocols, and the need to prevent genetic discrimination in employment and health insurance is becoming more urgent. In the longer term, these gene discoveries are likely to usher in a new era of therapeutic molecular medicine

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

    Science.gov (United States)

    Salk, Rachel H.; Hyde, Janet S.

    2012-01-01

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

  4. Neural networks for genetic epidemiology: past, present, and future

    Directory of Open Access Journals (Sweden)

    Motsinger-Reif Alison A

    2008-07-01

    Full Text Available Abstract During the past two decades, the field of human genetics has experienced an information explosion. The completion of the human genome project and the development of high throughput SNP technologies have created a wealth of data; however, the analysis and interpretation of these data have created a research bottleneck. While technology facilitates the measurement of hundreds or thousands of genes, statistical and computational methodologies are lacking for the analysis of these data. New statistical methods and variable selection strategies must be explored for identifying disease susceptibility genes for common, complex diseases. Neural networks (NN are a class of pattern recognition methods that have been successfully implemented for data mining and prediction in a variety of fields. The application of NN for statistical genetics studies is an active area of research. Neural networks have been applied in both linkage and association analysis for the identification of disease susceptibility genes. In the current review, we consider how NN have been used for both linkage and association analyses in genetic epidemiology. We discuss both the successes of these initial NN applications, and the questions that arose during the previous studies. Finally, we introduce evolutionary computing strategies, Genetic Programming Neural Networks (GPNN and Grammatical Evolution Neural Networks (GENN, for using NN in association studies of complex human diseases that address some of the caveats illuminated by previous work.

  5. Recommendations for Genetic Variation Data Capture in Developing Countries to Ensure a Comprehensive Worldwide Data Collection

    Science.gov (United States)

    Patrinos, George P; Al Aama, Jumana; Al Aqeel, Aida; Al-Mulla, Fahd; Borg, Joseph; Devereux, Andrew; Felice, Alex E; Macrae, Finlay; Marafie, Makia J; Petersen, Michael B; Qi, Ming; Ramesar, Rajkumar S; Zlotogora, Joel; Cotton, Richard GH

    2011-01-01

    Developing countries have significantly contributed to the elucidation of the genetic basis of both common and rare disorders, providing an invaluable resource of cases due to large family sizes, consanguinity, and potential founder effects. Moreover, the recognized depth of genomic variation in indigenous African populations, reflecting the ancient origins of humanity on the African continent, and the effect of selection pressures on the genome, will be valuable in understanding the range of both pathological and nonpathological variations. The involvement of these populations in accurately documenting the extant genetic heterogeneity is more than essential. Developing nations are regarded as key contributors to the Human Variome Project (HVP; http://www.humanvariomeproject.org), a major effort to systematically collect mutations that contribute to or cause human disease and create a cyber infrastructure to tie databases together. However, biomedical research has not been the primary focus in these countries even though such activities are likely to produce economic and health benefits for all. Here, we propose several recommendations and guidelines to facilitate participation of developing countries in genetic variation data documentation, ensuring an accurate and comprehensive worldwide data collection. We also summarize a few well-coordinated genetic data collection initiatives that would serve as paradigms for similar projects. Hum Mutat 31:1–8, 2010. © 2010 Wiley-Liss, Inc. PMID:21089065

  6. The human genome project and the Catholic Church (1)

    Science.gov (United States)

    Moraczewski, Albert S

    1991-12-01

    The Cathlic Church has not made any formal statements about the Human Genome Project as such. But the present Pope, John Paul II, has commented, albeit very briefly, on various aspects of genetic manipulation. Genetic interventions which are therapeutic (e.g. gene therapy), namely, directed to the correction or amelioration of a disorder are acceptable, in principle, provided they promote the personal well being of the individual being so treated. Genetic interventions which are not therapeutic for the specific individual involved but are experimental and directed primarily to improving humans as biological entities are of dubious moral probity, but are not necessarily to be totally rejected out of hand. To be morally acceptable such genetic intervention should meet certain conditions which include due respect for the given psychological nature of each individual human being. In addition, no harm should be inflicted on the process of human generation, and its fundamental design should not be altered. Any genetic manipulation which results in, or tends to, the creation of groups with different qualities such that there would result a fresh marginalization of these people must be avoided. It has been also suggested by a few that because the Son of God took on a human nature in Jesus Christ, one may not so alter the human genome that a new distinct species would be created....

  7. Towards mosquito sterile insect technique programmes: Exploring genetic, molecular, mechanical and behavioural methods of sex separation in mosquitoes

    Czech Academy of Sciences Publication Activity Database

    Gilles, J. R. L.; Schetelig, M. F.; Scolari, F.; Marec, František; Capurro, M.L.; Franz, G.; Bourtzis, K.

    132S, č. 1 (2014), S178-S187 ISSN 0001-706X R&D Projects: GA ČR GA523/09/2106 Grant - others:Deutsche Forschungsgemeinschalft(DE) SCHE 1833/1 Institutional support: RVO:60077344 Keywords : female elimination * vector control * genetic sexing strains (GSS) Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.270, year: 2014 http://www.sciencedirect.com/science/article/pii/S0001706X13002209?via=ihub

  8. Plant breeding and genetics newsletter. No. 5

    International Nuclear Information System (INIS)

    2000-06-01

    The fifth issue of the Plant Breeding and Genetics Newsletter brings information on our activities in the first half of 2000. A new Co-ordinated Research Project (CRP) on 'Mutational analysis of root characters in annual food plants related to plant performance' was initiated with the first Research Co-ordination Meeting (RCM) held in February 2000 in Vienna. Scientists participating in the RCM presented papers and discussed work plans on the use of mutants for genetic analysis of root system morphology, tolerance to soil stresses and mycorrhizal relationships. Mutated genes responsible for defined root characters will be incorporated to molecular markers based genetic maps by building their root systems to make them more adaptive to particular soil conditions. Preparation for initiation of another CRP on 'Improvement of tropical and subtropical fruit trees through induced mutations and biotechnology' has been completed. We are expecting 14 participants at the first RCM, which will be held in Vienna in September 2000. It is expected that this CRP will make a real breakthrough in application of induced mutations for improvement of fruit trees. In vitro, especially somatic embryogenesis as well as conventional breeding methods will be used in combination with mutation techniques. Significant progress was noted, at the second RCM, on the application of biotechnology and mutation techniques for the improvement of local food crops in LIFCs held in San Jose, Costa Rica, June 2000. The RCM was combined with a workshop on 'In vitro culture techniques for the improvement of vegetatively propagated tropical fruit crops'. The Regional training course on 'New frontiers of developing and handling mutants' was organized under the Technical Cooperation Project on 'Mutational enhancement of genetic diversity in rice' and hosted by the Institute of Nuclear Agricultural Sciences, Zhejiang University, Hangzhou, China in June 2000. The course focus on current induced mutation

  9. J. Genet. classic 101

    Indian Academy of Sciences (India)

    Journal of Genetics, Vol. 85, No. 2, August 2006. 101. Page 2. J. Genet. classic. 102. Journal of Genetics, Vol. 85, No. 2, August 2006. Page 3. J. Genet. classic. Journal of Genetics, Vol. 85, No. 2, August 2006. 103. Page 4. J. Genet. classic. 104. Journal of Genetics, Vol. 85, No. 2, August 2006. Page 5. J. Genet. classic.

  10. J. Genet. classic 37

    Indian Academy of Sciences (India)

    Unknown

    Journal of Genetics, Vol. 84, No. 1, April 2005. 37. Page 2. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 38. Page 3. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 39. Page 4. J. Genet. classic. Journal of Genetics, Vol. 84, No. 1, April 2005. 40. Page 5. J. Genet. classic. Journal of ...

  11. 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.

  12. 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...

  13. Biotechnology by Design: An Introductory Level, Project-Based, Synthetic Biology Laboratory Program for Undergraduate Students†

    OpenAIRE

    Beach, Dale L.; Alvarez, Consuelo J.

    2015-01-01

    Synthetic biology offers an ideal opportunity to promote undergraduate laboratory courses with research-style projects, immersing students in an inquiry-based program that enhances the experience of the scientific process. We designed a semester-long, project-based laboratory curriculum using synthetic biology principles to develop a novel sensory device. Students develop subject matter knowledge of molecular genetics and practical skills relevant to molecular biology, recombinant DNA techniq...

  14. Ethical issues in the use of genetic information in the workplace: a review of recent developments.

    Science.gov (United States)

    Geppert, Cynthia M A; Roberts, Laura Weiss

    2005-09-01

    In the wake of the Human Genome Project, the pace of genetic discovery has quickened. New genetic tests and other molecular technology have had immediate and wide relevance to American and European workers. These tests have the potential to provide improved workplace safety and protect workers' health, but they also carry the risk of genetic discrimination including loss of employment, promotion, insurance and health care. Ethical safeguards are necessary if the benefits are to outweigh the adverse consequences of genetics in the workplace. This review examines the major policy statements issued in Europe and the USA from 2000 to 2005 pertaining to genetic issues in occupational health. Recent findings stress that genetic testing can only be utilized with worker consent and that the workers should control access to genetic information. Such testing is only justified when the information is required to protect the safety of the worker or a third party. The progress of occupational genetic technology should not be permitted to shift the responsibility for a safe working environment from the employer to the employee. Genetic discrimination in all forms is neither supported scientifically nor warranted ethically. Increasingly, occupational physicians and clinicians treating workers will be faced with potentially stigmatizing genetic information and there is an urgent need for education and research to expand and implement the recommendations of major governmental and professional policy statements.

  15. Gaze-Stabilizing Central Vestibular Neurons Project Asymmetrically to Extraocular Motoneuron Pools.

    Science.gov (United States)

    Schoppik, David; Bianco, Isaac H; Prober, David A; Douglass, Adam D; Robson, Drew N; Li, Jennifer M B; Greenwood, Joel S F; Soucy, Edward; Engert, Florian; Schier, Alexander F

    2017-11-22

    Within reflex circuits, specific anatomical projections allow central neurons to relay sensations to effectors that generate movements. A major challenge is to relate anatomical features of central neural populations, such as asymmetric connectivity, to the computations the populations perform. To address this problem, we mapped the anatomy, modeled the function, and discovered a new behavioral role for a genetically defined population of central vestibular neurons in rhombomeres 5-7 of larval zebrafish. First, we found that neurons within this central population project preferentially to motoneurons that move the eyes downward. Concordantly, when the entire population of asymmetrically projecting neurons was stimulated collectively, only downward eye rotations were observed, demonstrating a functional correlate of the anatomical bias. When these neurons are ablated, fish failed to rotate their eyes following either nose-up or nose-down body tilts. This asymmetrically projecting central population thus participates in both upward and downward gaze stabilization. In addition to projecting to motoneurons, central vestibular neurons also receive direct sensory input from peripheral afferents. To infer whether asymmetric projections can facilitate sensory encoding or motor output, we modeled differentially projecting sets of central vestibular neurons. Whereas motor command strength was independent of projection allocation, asymmetric projections enabled more accurate representation of nose-up stimuli. The model shows how asymmetric connectivity could enhance the representation of imbalance during nose-up postures while preserving gaze stabilization performance. Finally, we found that central vestibular neurons were necessary for a vital behavior requiring maintenance of a nose-up posture: swim bladder inflation. These observations suggest that asymmetric connectivity in the vestibular system facilitates representation of ethologically relevant stimuli without

  16. The genetic impact of translocations and habitat fragmentation in chamois (Rupicapra) spp

    Czech Academy of Sciences Publication Activity Database

    Crestanello, B.; Pecchioli, E.; Vernesi, C.; Mona, S.; Martínková, Natália; Janiga, M.; Hauffe, H. C.; Bertorelle, G.

    2009-01-01

    Roč. 100, č. 6 (2009), s. 691-708 ISSN 0022-1503 R&D Projects: GA ČR GA206/01/0562; GA AV ČR IAA600930609 Institutional research plan: CEZ:AV0Z60930519 Keywords : conservation * hybridization * management * microsatellites * mtDNA * taxonomy Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.052, year: 2009

  17. Genetic testing for patients with renal disease: procedures, pitfalls, and ethical considerations.

    Science.gov (United States)

    Korf, B R

    1999-07-01

    The Human Genome Project is rapidly producing insights into the molecular basis of human genetic disorders. The most immediate clinical benefit is the advent of new diagnostic methods. Molecular diagnostic tools are available for several genetic renal disorders and are in development for many more. Two general approaches to molecular diagnosis are linkage-based testing and direct mutation detection. The former is used when the gene has not been cloned but has been mapped in relation to polymorphic loci. Linkage-based testing is also helpful when a large diversity of mutations makes direct detection difficult. Limitations include the need to study multiple family members, the need for informative polymorphisms, and genetic heterogeneity. Direct mutation detection is limited by genetic heterogeneity and the need to distinguish nonpathogenic allelic variants from pathogenic mutations. Molecular testing raises a number of complex ethical issues, including those associated with prenatal or presymptomatic diagnosis. In addition, there are concerns about informed consent, privacy, genetic discrimination, and technology transfer for newly developed tests. Health professionals need to be aware of the technical and ethical implications of these new methods of testing, as well as the complexities in test interpretation, as molecular approaches are increasingly integrated into medical practice.

  18. Freedom and Responsibility in Synthetic Genomics: The Synthetic Yeast Project.

    Science.gov (United States)

    Sliva, Anna; Yang, Huanming; Boeke, Jef D; Mathews, Debra J H

    2015-08-01

    First introduced in 2011, the Synthetic Yeast Genome (Sc2.0) PROJECT is a large international synthetic genomics project that will culminate in the first eukaryotic cell (Saccharomyces cerevisiae) with a fully synthetic genome. With collaborators from across the globe and from a range of institutions spanning from do-it-yourself biology (DIYbio) to commercial enterprises, it is important that all scientists working on this project are cognizant of the ethical and policy issues associated with this field of research and operate under a common set of principles. In this commentary, we survey the current ethics and regulatory landscape of synthetic biology and present the Sc2.0 Statement of Ethics and Governance to which all members of the project adhere. This statement focuses on four aspects of the Sc2.0 PROJECT: societal benefit, intellectual property, safety, and self-governance. We propose that such project-level agreements are an important, valuable, and flexible model of self-regulation for similar global, large-scale synthetic biology projects in order to maximize the benefits and minimize potential harms. Copyright © 2015 by the Genetics Society of America.

  19. 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.

  20. 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.

  1. Exploring Relationships Among Belief in Genetic Determinism, Genetics Knowledge, and Social Factors

    Science.gov (United States)

    Gericke, Niklas; Carver, Rebecca; Castéra, Jérémy; Evangelista, Neima Alice Menezes; Marre, Claire Coiffard; El-Hani, Charbel N.

    2017-12-01

    Genetic determinism can be described as the attribution of the formation of traits to genes, where genes are ascribed more causal power than what scientific consensus suggests. Belief in genetic determinism is an educational problem because it contradicts scientific knowledge, and is a societal problem because it has the potential to foster intolerant attitudes such as racism and prejudice against sexual orientation. In this article, we begin by investigating the very nature of belief in genetic determinism. Then, we investigate whether knowledge of genetics and genomics is associated with beliefs in genetic determinism. Finally, we explore the extent to which social factors such as gender, education, and religiosity are associated with genetic determinism. Methodologically, we gathered and analyzed data on beliefs in genetic determinism, knowledge of genetics and genomics, and social variables using the "Public Understanding and Attitudes towards Genetics and Genomics" (PUGGS) instrument. Our analyses of PUGGS responses from a sample of Brazilian university freshmen undergraduates indicated that (1) belief in genetic determinism was best characterized as a construct built up by two dimensions or belief systems: beliefs concerning social traits and beliefs concerning biological traits; (2) levels of belief in genetic determination of social traits were low, which contradicts prior work; (3) associations between knowledge of genetics and genomics and levels of belief in genetic determinism were low; and (4) social factors such as age and religiosity had stronger associations with beliefs in genetic determinism than knowledge. Although our study design precludes causal inferences, our results raise questions about whether enhancing genetic literacy will decrease or prevent beliefs in genetic determinism.

  2. The comparative radiation genetics of humans and mice

    International Nuclear Information System (INIS)

    Neel, J.V.

    1990-01-01

    The attempt by geneticists to predict the genetic consequences for humans of exposure to ionizing radiation has arguably been one of the most serious social responsibilities they have faced in the past half century. Important for its own sake, this issue also serves as a prototype for the effort to evaluate the ultimate genetic impact on ourselves of other human perturbations of the environment in which our species functions. Recently the authors have been developing the thesis that according to the results of studies on the children of survivors of the atomic bombings, humans may not be as sensitive to the genetic effects of radiation as has been projected by various committees on the basis of data from the most commonly employed paradigm, the laboratory mouse. In this paper, the authors attempt as detailed a comparison as space permits of the findings on humans and mice, presenting the data in a fashion that will enable those who at certain critical points in the argument wish to make other assumptions, to do so. The authors argue that a reconsideration that includes all the data now available on mice brings the estimate of the doubling dose for mice into satisfactory agreement with the higher estimate based on humans

  3. The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease

    Czech Academy of Sciences Publication Activity Database

    Ng, Y. S.; Alston, Ch. L.; Diodato, D.; Morris, A. A.; Ulrick, N.; Kmoch, S.; Houštěk, Josef; Martinelli, D.; Haghighi, A.; Atiq, M.; Gamero, M. A.; Garcia-Martinez, E.; Kratochvílová, H.; Santra, S.; Brown, R. M.; Brown, G. K.; Ragge, N.; Monavari, A.; Pysden, K.; Ravn, K.; Casey, J. P.; Khan, A.; Chakrapani, A.; Vassallo, G.; Simons, C.; McKeever, K.; O´Sullivan, S.; Childs, A.-M.; Ostergaard, E.; Vanderver, A.; Goldstein, A.; Vogt, J.; Taylor, R. W.; McFarland, R.

    2016-01-01

    Roč. 53, č. 11 (2016), s. 768-775 ISSN 0022-2593 R&D Projects: GA ČR(CZ) GB14-36804G Institutional support: RVO:67985823 Keywords : congenital sensorineural deafness * lactic acidosis * mitochondrial respiratory chain deficiencies * prognosis * renal disease Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 5.451, year: 2016

  4. J. Genet. classic 235

    Indian Academy of Sciences (India)

    Unknown

    Journal of Genetics, Vol. 83, No. 3, December 2004. 235. Page 2. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 236. Page 3. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 237. Page 4. J. Genet. classic. Journal of Genetics, Vol. 83, No. 3, December 2004. 238. Page 5 ...

  5. Genetic counseling and the ethical issues around direct to consumer genetic testing.

    Science.gov (United States)

    Hawkins, Alice K; Ho, Anita

    2012-06-01

    Over the last several years, direct to consumer(DTC) genetic testing has received increasing attention in the public, healthcare and academic realms. DTC genetic testing companies face considerable criticism and scepticism,particularly from the medical and genetic counseling community. This raises the question of what specific aspects of DTC genetic testing provoke concerns, and conversely,promises, for genetic counselors. This paper addresses this question by exploring DTC genetic testing through an ethic allens. By considering the fundamental ethical approaches influencing genetic counseling (the ethic of care and principle-based ethics) we highlight the specific ethical concerns raised by DTC genetic testing companies. Ultimately,when considering the ethics of DTC testing in a genetic counseling context, we should think of it as a balancing act. We need careful and detailed consideration of the risks and troubling aspects of such testing, as well as the potentially beneficial direct and indirect impacts of the increased availability of DTC genetic testing. As a result it is essential that genetic counselors stay informed and involved in the ongoing debate about DTC genetic testing and DTC companies. Doing so will ensure that the ethical theories and principles fundamental to the profession of genetic counseling are promoted not just in traditional counseling sessions,but also on a broader level. Ultimately this will help ensure that the public enjoys the benefits of an increasingly genetic based healthcare system.

  6. 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.

  7. [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.

  8. [The development of molecular human genetics and its significance for perspectives of modern medicine].

    Science.gov (United States)

    Coutelle, C; Speer, A; Grade, K; Rosenthal, A; Hunger, H D

    1989-01-01

    The introduction of molecular human genetics has become a paradigma for the application of genetic engineering in medicine. The main principles of this technology are the isolation of molecular probes, their application in hybridization reactions, specific gene-amplification by the polymerase chain reaction, and DNA sequencing reactions. These methods are used for the analysis of monogenic diseases by linkage studies and the elucidation of the molecular defect causing these conditions, respectively. They are also the basis for genomic diagnosis of monogenic diseases, introduced into the health care system of the GDR by a national project on Duchenne/Becker muscular dystrophy, Cystic Fibrosis and Phenylketonuria. The rapid development of basic research on the molecular analysis of the human genome and genomic diagnosis indicates, that human molecular genetics is becoming a decisive basic discipline of modern medicine.

  9. Whole-genome sequencing and genetic variant analysis of a Quarter Horse mare.

    KAUST Repository

    Doan, Ryan; Cohen, Noah D; Sawyer, Jason; Ghaffari, Noushin; Johnson, Charlie D; Dindot, Scott V

    2012-01-01

    BACKGROUND: The catalog of genetic variants in the horse genome originates from a few select animals, the majority originating from the Thoroughbred mare used for the equine genome sequencing project. The purpose of this study was to identify genetic variants, including single nucleotide polymorphisms (SNPs), insertion/deletion polymorphisms (INDELs), and copy number variants (CNVs) in the genome of an individual Quarter Horse mare sequenced by next-generation sequencing. RESULTS: Using massively parallel paired-end sequencing, we generated 59.6 Gb of DNA sequence from a Quarter Horse mare resulting in an average of 24.7X sequence coverage. Reads were mapped to approximately 97% of the reference Thoroughbred genome. Unmapped reads were de novo assembled resulting in 19.1 Mb of new genomic sequence in the horse. Using a stringent filtering method, we identified 3.1 million SNPs, 193 thousand INDELs, and 282 CNVs. Genetic variants were annotated to determine their impact on gene structure and function. Additionally, we genotyped this Quarter Horse for mutations of known diseases and for variants associated with particular traits. Functional clustering analysis of genetic variants revealed that most of the genetic variation in the horse's genome was enriched in sensory perception, signal transduction, and immunity and defense pathways. CONCLUSIONS: This is the first sequencing of a horse genome by next-generation sequencing and the first genomic sequence of an individual Quarter Horse mare. We have increased the catalog of genetic variants for use in equine genomics by the addition of novel SNPs, INDELs, and CNVs. The genetic variants described here will be a useful resource for future studies of genetic variation regulating performance traits and diseases in equids.

  10. Whole-genome sequencing and genetic variant analysis of a Quarter Horse mare.

    KAUST Repository

    Doan, Ryan

    2012-02-17

    BACKGROUND: The catalog of genetic variants in the horse genome originates from a few select animals, the majority originating from the Thoroughbred mare used for the equine genome sequencing project. The purpose of this study was to identify genetic variants, including single nucleotide polymorphisms (SNPs), insertion/deletion polymorphisms (INDELs), and copy number variants (CNVs) in the genome of an individual Quarter Horse mare sequenced by next-generation sequencing. RESULTS: Using massively parallel paired-end sequencing, we generated 59.6 Gb of DNA sequence from a Quarter Horse mare resulting in an average of 24.7X sequence coverage. Reads were mapped to approximately 97% of the reference Thoroughbred genome. Unmapped reads were de novo assembled resulting in 19.1 Mb of new genomic sequence in the horse. Using a stringent filtering method, we identified 3.1 million SNPs, 193 thousand INDELs, and 282 CNVs. Genetic variants were annotated to determine their impact on gene structure and function. Additionally, we genotyped this Quarter Horse for mutations of known diseases and for variants associated with particular traits. Functional clustering analysis of genetic variants revealed that most of the genetic variation in the horse\\'s genome was enriched in sensory perception, signal transduction, and immunity and defense pathways. CONCLUSIONS: This is the first sequencing of a horse genome by next-generation sequencing and the first genomic sequence of an individual Quarter Horse mare. We have increased the catalog of genetic variants for use in equine genomics by the addition of novel SNPs, INDELs, and CNVs. The genetic variants described here will be a useful resource for future studies of genetic variation regulating performance traits and diseases in equids.

  11. From Mendel to the Human Genome Project: The Implications for Nurse Education.

    Science.gov (United States)

    Burton, Hilary; Stewart, Alison

    2003-01-01

    The Human Genome Project is brining new opportunities to predict and prevent diseases. Although pediatric nurses are the closest to these developments, most nurses will encounter genetic aspects of practice and must understand the basic science and its ethical, legal, and social dimensions. (Includes commentary by Peter Birchenall.) (SK)

  12. Genetic control of resistance to Trypanosoma brucei brucei infection in mice

    Czech Academy of Sciences Publication Activity Database

    Šíma, Matyáš; Havelková, Helena; Quan, L.; Svobodová, M.; Jarošíková, T.; Vojtíšková, Jarmila; Stassen, A. P. M.; Demant, P.; Lipoldová, Marie

    2011-01-01

    Roč. 5, č. 6 (2011), e1173 ISSN 1935-2735 R&D Projects: GA AV ČR IAA500520606; GA MŠk(CZ) LC06009 Grant - others:NIH-NCI(US) 1R01CA127162-01 Institutional research plan: CEZ:AV0Z50520514 Keywords : Trypanosoma brucei brucei * mouse recombinant congenic strains * Tbbr Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 4.716, year: 2011

  13. Genetic improvement of black gram using induced mutations

    International Nuclear Information System (INIS)

    Pawar, S.E.; Manjaya, J.G.; Souframanien, J.; Bhatkar, S.M.

    2000-01-01

    Induced mutagenesis is an important tool for creating genetic variability in crop plants and has played a significant role in the development of many crop varieties. Genetic improvement of black gram (Vigna mungo L. Hepper) through induced mutations has been in progress at BARC for the past three decades. Mutation studies of genotype EC-168200 have resulted in isolating large number of mutants with distinct morphological characters. TAU-5, an early maturing mutant was identified as a resistant donor for yellow mosaic virus (YMV) disease by the All India Pulse Improvement Project, ICAR, Kanpur. TAU-5 was used in cross breeding with elite cultivars like T-9, TPU-4 and LBG-17. Twelve selections with high yield potential suitable for both kharif and rabi cultivation have been developed. One of the selections TU94-2 has been released for commercial cultivation for southern zone during 1999. The work on the development of YMV resistant genotypes is in progress and will be discussed. (author)

  14. Balancing selection and genetic drift create unusual patterns of MHCII variation in Galapagos mockingbirds

    Czech Academy of Sciences Publication Activity Database

    Vlček, Jakub; Hoeck, P. E. A.; Keller, L. F.; Wayhart, J. P.; Dolinová, I.; Štefka, Jan

    2016-01-01

    Roč. 25, č. 19 (2016), s. 4757-4772 ISSN 0962-1083 R&D Projects: GA ČR GPP506/12/P529 Institutional support: RVO:60077344 Keywords : major histocompatibility complex * Mimus * genetic diversity * population size * trans-species polymorphism Subject RIV: EG - Zoology Impact factor: 6.086, year: 2016

  15. 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.

  16. Genetic relationship between placental and fetal weights and markers of the metabolic syndrome in rat recombinant inbred strains

    Czech Academy of Sciences Publication Activity Database

    Burešová, M.; Zídek, Václav; Musilová, Alena; Šimáková, Miroslava; Fučíková, A.; Bílá, V.; Křen, Vladimír; Kazdová, L.; Di Nicolantonio, R.; Pravenec, Michal

    2006-01-01

    Roč. 26, č. 3 (2006), s. 226-231 ISSN 1094-8341 R&D Projects: GA MŠk(CZ) 1M0520; GA ČR(CZ) GA301/04/0390; GA MZd(CZ) NR8495 Grant - others:Sixth Framework Programme(XE) LSHG-CT-2005-019015 Institutional research plan: CEZ:AV0Z50110509 Keywords : genetic analysis * thrifty phenotype * recombinant inbred strains Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 3.789, year: 2006

  17. Population genetic analysis of ascertained SNP data

    Directory of Open Access Journals (Sweden)

    Nielsen Rasmus

    2004-03-01

    Full Text Available Abstract The large single nucleotide polymorphism (SNP typing projects have provided an invaluable data resource for human population geneticists. Almost all of the available SNP loci, however, have been identified through a SNP discovery protocol that will influence the allelic distributions in the sampled loci. Standard methods for population genetic analysis based on the available SNP data will, therefore, be biased. This paper discusses the effect of this ascertainment bias on allelic distributions and on methods for quantifying linkage disequilibrium and estimating demographic parameters. Several recently developed methods for correcting for the ascertainment bias will also be discussed.

  18. Genetic diversity is related to climatic variation and vulnerability in threatened bull trout

    Science.gov (United States)

    Kovach, Ryan; Muhlfeld, Clint C.; Wade, Alisa A.; Hand, Brian K.; Whited, Diane C.; DeHaan, Patrick W.; Al-Chokhachy, Robert K.; Luikart, Gordon

    2015-01-01

    Understanding how climatic variation influences ecological and evolutionary processes is crucial for informed conservation decision-making. Nevertheless, few studies have measured how climatic variation influences genetic diversity within populations or how genetic diversity is distributed across space relative to future climatic stress. Here, we tested whether patterns of genetic diversity (allelic richness) were related to climatic variation and habitat features in 130 bull trout (Salvelinus confluentus) populations from 24 watersheds (i.e., ~4–7th order river subbasins) across the Columbia River Basin, USA. We then determined whether bull trout genetic diversity was related to climate vulnerability at the watershed scale, which we quantified on the basis of exposure to future climatic conditions (projected scenarios for the 2040s) and existing habitat complexity. We found a strong gradient in genetic diversity in bull trout populations across the Columbia River Basin, where populations located in the most upstream headwater areas had the greatest genetic diversity. After accounting for spatial patterns with linear mixed models, allelic richness in bull trout populations was positively related to habitat patch size and complexity, and negatively related to maximum summer temperature and the frequency of winter flooding. These relationships strongly suggest that climatic variation influences evolutionary processes in this threatened species and that genetic diversity will likely decrease due to future climate change. Vulnerability at a watershed scale was negatively correlated with average genetic diversity (r = −0.77;P bull trout and other imperiled species. Genetic diversity is already depressed where climatic vulnerability is highest; it will likely erode further in the very places where diversity may be most needed for future persistence.

  19. Genetic variation in the major mitotic checkpoint genes associated with chromosomal aberrations in healthy humans

    Czech Academy of Sciences Publication Activity Database

    Försti, A.; Frank, Ch.; Smolková, B.; Kazimírová, A.; Barančoková, M.; Vymetálková, Veronika; Kroupa, M.; Naccarati, Alessio; Vodičková, Ludmila; Buchancová, J.; Dusinská, M.; Musak, L.; Vodička, Pavel; Hemminki, K.

    2016-01-01

    Roč. 380, č. 2 (2016), s. 442-446 ISSN 0304-3835 R&D Projects: GA ČR(CZ) GA15-14789S Institutional support: RVO:68378041 Keywords : chromosomal integrity * cytogenetics * spindle checkpoint Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 6.375, year: 2016

  20. Genetics in the art and art in genetics.

    Science.gov (United States)

    Bukvic, Nenad; Elling, John W

    2015-01-15

    "Healing is best accomplished when art and science are conjoined, when body and spirit are probed together", says Bernard Lown, in his book "The Lost Art of Healing". Art has long been a witness to disease either through diseases which affected artists or diseases afflicting objects of their art. In particular, artists have often portrayed genetic disorders and malformations in their work. Sometimes genetic disorders have mystical significance; other times simply have intrinsic interest. Recognizing genetic disorders is also an art form. From the very beginning of my work as a Medical Geneticist I have composed personal "algorithms" to piece together evidence of genetics syndromes and diseases from the observable signs and symptoms. In this paper we apply some 'gestalt' Genetic Syndrome Diagnostic algorithms to virtual patients found in some art masterpieces. In some the diagnosis is clear and in others the artists' depiction only supports a speculative differential diagnosis. Copyright © 2014 Elsevier B.V. All rights reserved.

  1. Analysis of conditional genetic effects and variance components in developmental genetics.

    Science.gov (United States)

    Zhu, J

    1995-12-01

    A genetic model with additive-dominance effects and genotype x environment interactions is presented for quantitative traits with time-dependent measures. The genetic model for phenotypic means at time t conditional on phenotypic means measured at previous time (t-1) is defined. Statistical methods are proposed for analyzing conditional genetic effects and conditional genetic variance components. Conditional variances can be estimated by minimum norm quadratic unbiased estimation (MINQUE) method. An adjusted unbiased prediction (AUP) procedure is suggested for predicting conditional genetic effects. A worked example from cotton fruiting data is given for comparison of unconditional and conditional genetic variances and additive effects.

  2. Genetic regulation of catecholamine synthesis, storage and secretion in the spontaneously hypertensive rat

    Czech Academy of Sciences Publication Activity Database

    Jirout, M. L.; Friese, R. S.; Mahapatra, N. R.; Mahata, M.; Taupenot, L.; Mahata, S. K.; Křen, V.; Zídek, Václav; Fischer, J.; Maatz, H.; Ziegler, M. G.; Pravenec, Michal; Hubner, N.; Aitman, T. J.; Schork, N. J.; O´Connor, D. T.

    2010-01-01

    Roč. 19, č. 13 (2010), s. 2567-2580 ISSN 0964-6906 R&D Projects: GA AV ČR(CZ) IAA500110604 Grant - others:HHMI(US) HHMI Institutional research plan: CEZ:AV0Z50110509 Keywords : spontaneously hypertensive rat * catecholamines * blood pressure Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 8.058, year: 2010

  3. 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 ...

  4. 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.

  5. MaizeGDB: The Maize Genetics and Genomics Database.

    Science.gov (United States)

    Harper, Lisa; Gardiner, Jack; Andorf, Carson; Lawrence, Carolyn J

    2016-01-01

    MaizeGDB is the community database for biological information about the crop plant Zea mays. Genomic, genetic, sequence, gene product, functional characterization, literature reference, and person/organization contact information are among the datatypes stored at MaizeGDB. At the project's website ( http://www.maizegdb.org ) are custom interfaces enabling researchers to browse data and to seek out specific information matching explicit search criteria. In addition, pre-compiled reports are made available for particular types of data and bulletin boards are provided to facilitate communication and coordination among members of the community of maize geneticists.

  6. Dissecting the genetic architecture of F-1 hybrid sterility in house mice

    Czech Academy of Sciences Publication Activity Database

    Dzúr-Gejdošová, Mária; Šimeček, Petr; Gregorová, Soňa; Bhattacharyya, Tanmoy; Forejt, Jiří

    2012-01-01

    Roč. 66, č. 11 (2012), s. 3321-3335 ISSN 0014-3820 R&D Projects: GA MŠk(CZ) LD11079 Grant - others:AV ČR(CZ) Praemium Academiae Institutional research plan: CEZ:AV0Z50520514 Keywords : hybrid sterility * reproductive isolation * recombination hotspots * chromosome X * chromosome 17 Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 4.864, year: 2012

  7. Mapping genetic determinants of coronary microvascular remodeling in the spontaneously hypertensive rat

    Czech Academy of Sciences Publication Activity Database

    Mancini, M.; Petretto, E.; Kleinert, C.; Scavone, A.; De, T.; Cook, S.; Šilhavý, Jan; Zídek, Václav; Pravenec, Michal; d´Amati, G.; Camici, P.G.

    2013-01-01

    Roč. 108, č. 1 (2013), s. 316 ISSN 0300-8428 R&D Projects: GA MŠk(CZ) LH11049; GA MŠk(CZ) LL1204; GA ČR(CZ) GAP301/12/0696 Institutional support: RVO:67985823 Keywords : arterial hypertension * coronary circulation * myocardial ischemia * spontaneously hypertensive rat * recombinant inbred strains Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 5.955, year: 2013

  8. Genetic rescue of an endangered domestic animal through outcrossing with closely related breeds: A case study of the Norwegian Lundehund.

    Directory of Open Access Journals (Sweden)

    Astrid V Stronen

    Full Text Available Genetic rescue, outcrossing with individuals from a related population, is used to augment genetic diversity in populations threatened by severe inbreeding and extinction. The endangered Norwegian Lundehund dog underwent at least two severe bottlenecks in the 1940s and 1960s that each left only five inbred dogs, and the approximately 1500 dogs remaining world-wide today appear to descend from only two individuals. The Lundehund has a high prevalence of a gastrointestinal disease, to which all remaining dogs may be predisposed. Outcrossing is currently performed with three Nordic Spitz breeds: Norwegian Buhund, Icelandic Sheepdog, and Norrbottenspets. Examination of single nucleotide polymorphism (SNP genotypes based on 165K loci in 48 dogs from the four breeds revealed substantially lower genetic diversity for the Lundehund (HE 0.035 than for other breeds (HE 0.209-0.284. Analyses of genetic structure with > 15K linkage disequilibrium-pruned SNPs showed four distinct genetic clusters. Pairwise FST values between Lundehund and the candidate breeds were highest for Icelandic Sheepdog, followed by Buhund and Norrbottenspets. We assessed the presence of outlier loci among candidate breeds and examined flanking genome regions (1 megabase for genes under possible selection to identify potential adaptive differences among breeds; outliers were observed in flanking regions of genes associated with key functions including the immune system, metabolism, cognition and physical development. We suggest crossbreeding with multiple breeds as the best strategy to increase genetic diversity for the Lundehund and to reduce the incidence of health problems. For this project, the three candidate breeds were first selected based on phenotypes and then subjected to genetic investigation. Because phenotypes are often paramount for domestic breed owners, such a strategy could provide a helpful approach for genetic rescue and restoration of other domestic populations at

  9. Knowledge of Genetics and Attitudes toward Genetic Testing among College Students in Saudi Arabia.

    Science.gov (United States)

    Olwi, Duaa; Merdad, Leena; Ramadan, Eman

    2016-01-01

    Genetic testing has been gradually permeating the practice of medicine. Health-care providers may be confronted with new genetic approaches that require genetically informed decisions which will be influenced by patients' knowledge of genetics and their attitudes toward genetic testing. This study assesses the knowledge of genetics and attitudes toward genetic testing among college students. A cross-sectional study was conducted using a multistage stratified sample of 920 senior college students enrolled at King Abdulaziz University, Saudi Arabia. Information regarding knowledge of genetics, attitudes toward genetic testing, and sociodemographic data were collected using a self-administered questionnaire. In general, students had a good knowledge of genetics but lacked some fundamentals of genetics. The majority of students showed positive attitudes toward genetic testing, but some students showed negative attitudes toward certain aspects of genetic testing such as resorting to abortion in the case of an untreatable major genetic defect in an unborn fetus. The main significant predictors of knowledge were faculty, gender, academic year, and some prior awareness of 'genetic testing'. The main significant predictors of attitudes were gender, academic year, grade point average, and some prior awareness of 'genetic testing'. The knowledge of genetics among college students was higher than has been reported in other studies, and the attitudes toward genetic testing were fairly positive. Genetics educational programs that target youths may improve knowledge of genetics and create a public perception that further supports genetic testing. © 2016 S. Karger AG, Basel.

  10. Evidence for genetic association between chromosome 1q loci and predisposition to colorectal neoplasia.

    Czech Academy of Sciences Publication Activity Database

    Schubert, S.A.; Ruano, D.; Elsayed, F.A.; Boot, A.; Crobach, S.; Sarasqueta, A.F.; Wolffenbuttel, B.; van der Klauw, M.M.; Oosting, J.; Tops, C.M.; van Eijk, R.; Vasen, H.F.; Vossen, R.H.; Nielsen, M.; Castellví-Bel, S.; Ruiz-Ponte, C.; Tomlinson, I.; Dunlop, M.G.; Vodička, Pavel; Wijnen, J.T.; Hes, F.J.; Morreau, H.; de Miranda, N.F.; Sijmons, R.H.; van Wezel, T.

    2017-01-01

    Roč. 117, č. 8 (2017), s. 1215-1223 ISSN 0007-0920 R&D Projects: GA MŠk(CZ) LD14050 Institutional support: RVO:68378041 Keywords : hereditary colorectal cancer * colorectal polyps * homozygosity mapping Subject RIV: EB - Genetics ; Molecular Biology OBOR OECD: Biochemistry and molecular biology Impact factor: 6.176, year: 2016

  11. Research projects in radiobiology and radiation protection

    International Nuclear Information System (INIS)

    1960-01-01

    Of the research projects sponsored by the International Atomic Energy Agency quite a large number are concerned with the biological effects of ionizing radiation. That itself, of course, is a very wide field covering such subjects as the nature and mechanism of radiation damage, genetic mutations, the varying radiosensitivity of different organisms, ways of modifying the natural sensitivity or resistance, and biological and chemical means of protection. In all these branches of enquiry, the Agency has awarded research contracts to scientific institutes or laboratories in different countries

  12. Research projects in radiobiology and radiation protection

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    1960-04-15

    Of the research projects sponsored by the International Atomic Energy Agency quite a large number are concerned with the biological effects of ionizing radiation. That itself, of course, is a very wide field covering such subjects as the nature and mechanism of radiation damage, genetic mutations, the varying radiosensitivity of different organisms, ways of modifying the natural sensitivity or resistance, and biological and chemical means of protection. In all these branches of enquiry, the Agency has awarded research contracts to scientific institutes or laboratories in different countries

  13. Preimplantation genetic screening.

    Science.gov (United States)

    Harper, Joyce C

    2018-03-01

    Preimplantation genetic diagnosis was first successfully performed in 1989 as an alternative to prenatal diagnosis for couples at risk of transmitting a genetic or chromosomal abnormality, such as cystic fibrosis, to their child. From embryos generated in vitro, biopsied cells are genetically tested. From the mid-1990s, this technology has been employed as an embryo selection tool for patients undergoing in vitro fertilisation, screening as many chromosomes as possible, in the hope that selecting chromosomally normal embryos will lead to higher implantation and decreased miscarriage rates. This procedure, preimplantation genetic screening, was initially performed using fluorescent in situ hybridisation, but 11 randomised controlled trials of screening using this technique showed no improvement in in vitro fertilisation delivery rates. Progress in genetic testing has led to the introduction of array comparative genomic hybridisation, quantitative polymerase chain reaction, and next generation sequencing for preimplantation genetic screening, and three small randomised controlled trials of preimplantation genetic screening using these new techniques indicate a modest benefit. Other trials are still in progress but, regardless of their results, preimplantation genetic screening is now being offered globally. In the near future, it is likely that sequencing will be used to screen the full genetic code of the embryo.

  14. Closure of population biobanks and direct-to-consumer genetic testing companies.

    Science.gov (United States)

    Zawati, Ma'n H; Borry, Pascal; Howard, Heidi Carmen

    2011-09-01

    Genetic research gained new momentum with the completion of the Human Genome Project in 2003. Formerly centered on the investigation of single-gene disorders, genetic research is increasingly targeting common complex diseases and in doing so is studying the whole genome, the environment and its impact on genomic variation. Consequently, biobanking initiatives have emerged around the world as a tool to sustain such progress. Whether they are small scale or longitudinal, public or private, commercial or non-commercial, biobanks should consider the possibility of closure. Interestingly, while raising important ethical issues, this topic has hardly been explored in the literature. Indeed, ethical issues associated with sale, insolvency, end of funding, or transfer of materials to other entities (which are all issues either related to or possible consequences of closure) are seldom the subject of discussion. In an attempt to fill this gap, this paper will discuss-using population and direct-to-consumer (DTC) genetic testing companies' biobanks as case studies-(1) international and national normative documents addressing the issue of closure and (2) the internal policies of population biobanks and DTC genetic testing companies. The analysis will inform the debate on biobank closure and elucidate the underlying ethical issues, which include, but are not limited to informed consent, storage and privacy.

  15. 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.

  16. Invasion genetics of the introduced black rat (Rattus rattus) in Senegal, West Africa

    Czech Academy of Sciences Publication Activity Database

    Konečný, Adam; Estoup, A.; Duplantier, J.-M.; Bryja, Josef; Ba, K.; Galan, M.; Tatard, C.; Cosson, J.-F.

    2013-01-01

    Roč. 22, č. 2 (2013), s. 286-300 ISSN 0962-1083 R&D Project s: GA AV ČR IAA6093404; GA ČR GAP506/10/0983 Institutional support: RVO:68081766 Keywords : approximate bayesian computation * bioinvasion * Bayesian clustering * founder effects * genetic admixture * microsatellites * multiple introductions Subject RIV: EG - Zoology Impact factor: 5.840, year: 2013

  17. GRECOS Project (Genotyping Recurrence Risk of Stroke): The Use of Genetics to Predict the Vascular Recurrence After Stroke.

    Science.gov (United States)

    Fernández-Cadenas, Israel; Mendióroz, Maite; Giralt, Dolors; Nafria, Cristina; Garcia, Elena; Carrera, Caty; Gallego-Fabrega, Cristina; Domingues-Montanari, Sophie; Delgado, Pilar; Ribó, Marc; Castellanos, Mar; Martínez, Sergi; Freijo, Marimar; Jiménez-Conde, Jordi; Rubiera, Marta; Alvarez-Sabín, José; Molina, Carlos A; Font, Maria Angels; Grau Olivares, Marta; Palomeras, Ernest; Perez de la Ossa, Natalia; Martinez-Zabaleta, Maite; Masjuan, Jaime; Moniche, Francisco; Canovas, David; Piñana, Carlos; Purroy, Francisco; Cocho, Dolores; Navas, Inma; Tejero, Carlos; Aymerich, Nuria; Cullell, Natalia; Muiño, Elena; Serena, Joaquín; Rubio, Francisco; Davalos, Antoni; Roquer, Jaume; Arenillas, Juan Francisco; Martí-Fábregas, Joan; Keene, Keith; Chen, Wei-Min; Worrall, Bradford; Sale, Michele; Arboix, Adrià; Krupinski, Jerzy; Montaner, Joan

    2017-05-01

    Vascular recurrence occurs in 11% of patients during the first year after ischemic stroke (IS) or transient ischemic attack. Clinical scores do not predict the whole vascular recurrence risk; therefore, we aimed to find genetic variants associated with recurrence that might improve the clinical predictive models in IS. We analyzed 256 polymorphisms from 115 candidate genes in 3 patient cohorts comprising 4482 IS or transient ischemic attack patients. The discovery cohort was prospectively recruited and included 1494 patients, 6.2% of them developed a new IS during the first year of follow-up. Replication analysis was performed in 2988 patients using SNPlex or HumanOmni1-Quad technology. We generated a predictive model using Cox regression (GRECOS score [Genotyping Reurrence Risk of Stroke]) and generated risk groups using a classification tree method. The analyses revealed that rs1800801 in the MGP gene (hazard ratio, 1.33; P =9×10 - 03 ), a gene related to artery calcification, was associated with new IS during the first year of follow-up. This polymorphism was replicated in a Spanish cohort (n=1.305); however, it was not significantly associated in a North American cohort (n=1.683). The GRECOS score predicted new IS ( P =3.2×10 - 09 ) and could classify patients, from low risk of stroke recurrence (1.9%) to high risk (12.6%). Moreover, the addition of genetic risk factors to the GRECOS score improves the prediction compared with previous Stroke Prognosis Instrument-II score ( P =0.03). The use of genetics could be useful to estimate vascular recurrence risk after IS. Genetic variability in the MGP gene was associated with vascular recurrence in the Spanish population. © 2017 American Heart Association, Inc.

  18. Population and genomic lessons from genetic analysis of two Indian populations.

    Science.gov (United States)

    Juyal, Garima; Mondal, Mayukh; Luisi, Pierre; Laayouni, Hafid; Sood, Ajit; Midha, Vandana; Heutink, Peter; Bertranpetit, Jaume; Thelma, B K; Casals, Ferran

    2014-10-01

    Indian demographic history includes special features such as founder effects, interpopulation segregation, complex social structure with a caste system and elevated frequency of consanguineous marriages. It also presents a higher frequency for some rare mendelian disorders and in the last two decades increased prevalence of some complex disorders. Despite the fact that India represents about one-sixth of the human population, deep genetic studies from this terrain have been scarce. In this study, we analyzed high-density genotyping and whole-exome sequencing data of a North and a South Indian population. Indian populations show higher differentiation levels than those reported between populations of other continents. In this work, we have analyzed its consequences, by specifically assessing the transferability of genetic markers from or to Indian populations. We show that there is limited genetic marker portability from available genetic resources such as HapMap or the 1,000 Genomes Project to Indian populations, which also present an excess of private rare variants. Conversely, tagSNPs show a high level of portability between the two Indian populations, in contrast to the common belief that North and South Indian populations are genetically very different. By estimating kinship from mates and consanguinity in our data from trios, we also describe different patterns of assortative mating and inbreeding in the two populations, in agreement with distinct mating preferences and social structures. In addition, this analysis has allowed us to describe genomic regions under recent adaptive selection, indicating differential adaptive histories for North and South Indian populations. Our findings highlight the importance of considering demography for design and analysis of genetic studies, as well as the need for extending human genetic variation catalogs to new populations and particularly to those with particular demographic histories.

  19. Multi-objective optimization of discrete time-cost tradeoff problem in project networks using non-dominated sorting genetic algorithm

    Science.gov (United States)

    Shahriari, Mohammadreza

    2016-06-01

    The time-cost tradeoff problem is one of the most important and applicable problems in project scheduling area. There are many factors that force the mangers to crash the time. This factor could be early utilization, early commissioning and operation, improving the project cash flow, avoiding unfavorable weather conditions, compensating the delays, and so on. Since there is a need to allocate extra resources to short the finishing time of project and the project managers are intended to spend the lowest possible amount of money and achieve the maximum crashing time, as a result, both direct and indirect costs will be influenced in the project, and here, we are facing into the time value of money. It means that when we crash the starting activities in a project, the extra investment will be tied in until the end date of the project; however, when we crash the final activities, the extra investment will be tied in for a much shorter period. This study is presenting a two-objective mathematical model for balancing compressing the project time with activities delay to prepare a suitable tool for decision makers caught in available facilities and due to the time of projects. Also drawing the scheduling problem to real world conditions by considering nonlinear objective function and the time value of money are considered. The presented problem was solved using NSGA-II, and the effect of time compressing reports on the non-dominant set.

  20. The UK Human Genome Mapping Project online computing service.

    Science.gov (United States)

    Rysavy, F R; Bishop, M J; Gibbs, G P; Williams, G W

    1992-04-01

    This paper presents an overview of computing and networking facilities developed by the Medical Research Council to provide online computing support to the Human Genome Mapping Project (HGMP) in the UK. The facility is connected to a number of other computing facilities in various centres of genetics and molecular biology research excellence, either directly via high-speed links or through national and international wide-area networks. The paper describes the design and implementation of the current system, a 'client/server' network of Sun, IBM, DEC and Apple servers, gateways and workstations. A short outline of online computing services currently delivered by this system to the UK human genetics research community is also provided. More information about the services and their availability could be obtained by a direct approach to the UK HGMP-RC.

  1. Cryptic Genetic Variation in Evolutionary Developmental Genetics

    Directory of Open Access Journals (Sweden)

    Annalise B. Paaby

    2016-06-01

    Full Text Available Evolutionary developmental genetics has traditionally been conducted by two groups: Molecular evolutionists who emphasize divergence between species or higher taxa, and quantitative geneticists who study variation within species. Neither approach really comes to grips with the complexities of evolutionary transitions, particularly in light of the realization from genome-wide association studies that most complex traits fit an infinitesimal architecture, being influenced by thousands of loci. This paper discusses robustness, plasticity and lability, phenomena that we argue potentiate major evolutionary changes and provide a bridge between the conceptual treatments of macro- and micro-evolution. We offer cryptic genetic variation and conditional neutrality as mechanisms by which standing genetic variation can lead to developmental system drift and, sheltered within canalized processes, may facilitate developmental transitions and the evolution of novelty. Synthesis of the two dominant perspectives will require recognition that adaptation, divergence, drift and stability all depend on similar underlying quantitative genetic processes—processes that cannot be fully observed in continuously varying visible traits.

  2. The genetic etiology of Tourette Syndrome: Large-scale collaborative efforts on the precipice of discovery

    Directory of Open Access Journals (Sweden)

    Marianthi Georgitsi

    2016-08-01

    Full Text Available Gilles de la Tourette Syndrome (TS is a childhood-onset neurodevelopmental disorder that is characterized by multiple motor and phonic tics. It has a complex etiology with multiple genes likely interacting with environmental factors to lead to the onset of symptoms. The genetic basis of the disorder remains elusive;however, multiple resources and large-scale projects are coming together, launching a new era in the field and bringing us on the verge of discovery. The large-scale efforts outlined in this report, are complementary and represent a range of different approaches to the study of disorders with complex inheritance. The Tourette Syndrome Association International Consortium for Genetics (TSAICG has focused on large families, parent-proband trios and cases for large case-control designs such as genomewide association studies (GWAS, copy number variation (CNV scans and exome/genome sequencing. TIC Genetics targets rare, large effect size mutations in simplex trios and multigenerational families. The European Multicentre Tics in Children Study (EMTICS seeks to elucidate gene-environment interactions including the involvement of infection and immune mechanisms in TS etiology. Finally, TS-EUROTRAIN, a Marie Curie Initial Training Network, aims to act as a platform to unify large-scale projects in the field and to educate the next generation of experts. Importantly, these complementary large-scale efforts are joining forces to uncover the full range of genetic variation and environmental risk factors for TS, holding great promise for indentifying definitive TS susceptibility genes and shedding light into the complex pathophysiology of this disorder.

  3. The Genetic Etiology of Tourette Syndrome: Large-Scale Collaborative Efforts on the Precipice of Discovery

    Science.gov (United States)

    Georgitsi, Marianthi; Willsey, A. Jeremy; Mathews, Carol A.; State, Matthew; Scharf, Jeremiah M.; Paschou, Peristera

    2016-01-01

    Gilles de la Tourette Syndrome (TS) is a childhood-onset neurodevelopmental disorder that is characterized by multiple motor and phonic tics. It has a complex etiology with multiple genes likely interacting with environmental factors to lead to the onset of symptoms. The genetic basis of the disorder remains elusive. However, multiple resources and large-scale projects are coming together, launching a new era in the field and bringing us on the verge of discovery. The large-scale efforts outlined in this report are complementary and represent a range of different approaches to the study of disorders with complex inheritance. The Tourette Syndrome Association International Consortium for Genetics (TSAICG) has focused on large families, parent-proband trios and cases for large case-control designs such as genomewide association studies (GWAS), copy number variation (CNV) scans, and exome/genome sequencing. TIC Genetics targets rare, large effect size mutations in simplex trios, and multigenerational families. The European Multicentre Tics in Children Study (EMTICS) seeks to elucidate gene-environment interactions including the involvement of infection and immune mechanisms in TS etiology. Finally, TS-EUROTRAIN, a Marie Curie Initial Training Network, aims to act as a platform to unify large-scale projects in the field and to educate the next generation of experts. Importantly, these complementary large-scale efforts are joining forces to uncover the full range of genetic variation and environmental risk factors for TS, holding great promise for identifying definitive TS susceptibility genes and shedding light into the complex pathophysiology of this disorder. PMID:27536211

  4. Facultative asexual reproduction and genetic diversity of populations in the humivorous termite Cavitermes tuberosus

    Czech Academy of Sciences Publication Activity Database

    Fournier, D.; Hellemans, S.; Hanus, Robert; Roisin, Y.

    2016-01-01

    Roč. 283, č. 1832 (2016), č. článku 20160196. ISSN 0962-8452 R&D Projects: GA ČR(CZ) GA14-12774S Institutional support: RVO:61388963 Keywords : thelytokous parthenogenesis * breeding systems * termites * reproductive strategies * Isoptera * Termitidae Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 4.940, year: 2016

  5. Genetic variability of HVRII mtDNA in cord blood and respiratory morbidity in children

    Czech Academy of Sciences Publication Activity Database

    Schmuczerová, Jana; Brdička, R.; Dostál, Miroslav; Šrám, Radim; Topinka, Jan

    2009-01-01

    Roč. 666, 1-2 (2009), s. 1-7 ISSN 0027-5107 R&D Projects: GA MŽP SL/5/160/05 Institutional research plan: CEZ:AV0Z50390512 Keywords : mitochondrial DNA * genetic polymorphisms * children morbidity Subject RIV: DN - Health Impact of the Environment Quality Impact factor: 3.556, year: 2009

  6. Probing genetic control of swine responses to PRRSV infection: current progress of the PRRS host genetics consortium

    Directory of Open Access Journals (Sweden)

    Lunney Joan K

    2011-06-01

    Full Text Available Abstract Background Understanding the role of host genetics in resistance to porcine reproductive and respiratory syndrome virus (PRRSV infection, and the effects of PRRS on pig health and related growth, are goals of the PRRS Host Genetics Consortium (PHGC. Methods The project uses a nursery pig model to assess pig resistance/susceptibility to primary PRRSV infection. To date, 6 groups of 200 crossbred pigs from high health farms were donated by commercial sources. After acclimation, the pigs were infected with PRRSV in a biosecure facility and followed for 42 days post infection (dpi. Blood samples were collected at 0, 4, 7, 10, 14, 21, 28, 35 and 42 dpi for serum and whole blood RNA gene expression analyses; weekly weights were recorded for growth traits. All data have been entered into the PHGC relational database. Genomic DNAs from all PHGC1-6 pigs were prepared and genotyped with the Porcine SNP60 SNPchip. Results Results have affirmed that all challenged pigs become PRRSV infected with peak viremia being observed between 4-21 dpi. Multivariate statistical analyses of viral load and weight data have identified PHGC pigs in different virus/weight categories. Sera are now being compared for factors involved in recovery from infection, including speed of response and levels of immune cytokines. Genome-wide association studies (GWAS are underway to identify genes and chromosomal locations that identify PRRS resistant/susceptible pigs and pigs able to maintain growth while infected with PRRSV. Conclusions Overall, the PHGC project will enable researchers to discover and verify important genotypes and phenotypes that predict resistance/susceptibility to PRRSV infection. The availability of PHGC samples provides a unique opportunity to continue to develop deeper phenotypes on every PRRSV infected pig.

  7. Early results from genetic trials on the growth of Spanish cedar and itssusceptibility to the shoot borer moth in the Yucatan Peninsula, Mexico.

    Science.gov (United States)

    Sheila E. Ward; Kevyn E. Wightman; Bartolo. Rodriguez Santiago

    2008-01-01

    Cedrela odorata (Spanish cedar) is a neotropical broadleaf tree species that is in high demand for furniture and interior fittings. In 1998, seed collections were made from Spanish cedar in the Yucatan Peninsula, Mexico, for genetic conservation and tree improvement projects. Progeny from these collections were established in genetic trials at Bacalar, Noh Bec, and Zoh...

  8. 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.

  9. 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.

  10. Is genetic diversity congruent with morphological diversity across the distributional range of the Melampyrum subalpinum group (Orobanchaceae)?

    Czech Academy of Sciences Publication Activity Database

    Chlumský, J.; Koutecký, P.; Plačková, Ivana; Štech, M.

    2016-01-01

    Roč. 200, April 01 (2016), s. 74-83 ISSN 0367-2530 R&D Projects: GA ČR GB14-36079G Institutional support: RVO:67985939 Keywords : allozymes * hemiparasites * population genetics Subject RIV: EF - Botanics Impact factor: 1.125, year: 2016

  11. How much genetic variation is stored in the seed bank? A study of Atriplex tatarica (Chenopodiaceae)

    Czech Academy of Sciences Publication Activity Database

    Mandák, Bohumil; Bímová, Kateřina; Mahelka, Václav; Plačková, Ivana

    2006-01-01

    Roč. 15, - (2006), s. 2653-2663 ISSN 0962-1083 R&D Projects: GA AV ČR IAA6005206 Institutional research plan: CEZ:AV0Z60050516 Keywords : seed bank * population genetic structure * competition Subject RIV: EF - Botanics Impact factor: 4.825, year: 2006

  12. The genetic difference principle.

    Science.gov (United States)

    Farrelly, Colin

    2004-01-01

    In the newly emerging debates about genetics and justice three distinct principles have begun to emerge concerning what the distributive aim of genetic interventions should be. These principles are: genetic equality, a genetic decent minimum, and the genetic difference principle. In this paper, I examine the rationale of each of these principles and argue that genetic equality and a genetic decent minimum are ill-equipped to tackle what I call the currency problem and the problem of weight. The genetic difference principle is the most promising of the three principles and I develop this principle so that it takes seriously the concerns of just health care and distributive justice in general. Given the strains on public funds for other important social programmes, the costs of pursuing genetic interventions and the nature of genetic interventions, I conclude that a more lax interpretation of the genetic difference principle is appropriate. This interpretation stipulates that genetic inequalities should be arranged so that they are to the greatest reasonable benefit of the least advantaged. Such a proposal is consistent with prioritarianism and provides some practical guidance for non-ideal societies--that is, societies that do not have the endless amount of resources needed to satisfy every requirement of justice.

  13. The Development of Mature Capabilities for Understanding and Valuing Technology through School Project Work.

    Science.gov (United States)

    Schallies, Michael; Wellensiek, Anneliese; Lembens, Anja

    This paper describes a German project that developed students' capabilities for understanding and valuing biotechnology and genetic engineering, focusing on practical fieldwork with schools by an interdisciplinary team. The paper identifies the characteristics of individual and structural preconditions and their development during active project…

  14. Preimplantation Genetic Screening and Preimplantation Genetic Diagnosis.

    Science.gov (United States)

    Sullivan-Pyke, Chantae; Dokras, Anuja

    2018-03-01

    Preimplantation genetic testing encompasses preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD). PGS improves success rates of in vitro fertilization by ensuring the transfer of euploid embryos that have a higher chance of implantation and resulting in a live birth. PGD enables the identification of embryos with specific disease-causing mutations and transfer of unaffected embryos. The development of whole genome amplification and genomic tools, including single nucleotide polymorphism microarrays, comparative genomic hybridization microarrays, and next-generation sequencing, has led to faster, more accurate diagnoses that translate to improved pregnancy and live birth rates. Copyright © 2017 Elsevier Inc. All rights reserved.

  15. The justification of studies in genetic epidemiology - political scaling in China Medical City.

    Science.gov (United States)

    Sleeboom-Faulkner, Margaret

    2018-04-01

    Genetic epidemiology examines the role of genetic factors in determining health and disease in families and in populations to help addressing health problems in a responsible manner. This paper uses a case study of genetic epidemiology in Taizhou, China, to explore ways in which anthropology can contribute to the validation of studies in genetic epidemiology. It does so, first, by identifying potential overgeneralizations of data, often due to mismatching scale and, second, by examining it's embedding in political, historical and local contexts. The example of the longitudinal cohort study in Taizhou illustrates dimensions of such 'political scaling'. Political scaling is a notion used here to refer to the effects of scaling biases in relation to the justification of research in terms of relevance, reach and research ethics. The justification of a project on genetic epidemiology involves presenting a maximum of benefits and a minimum of burden for the population. To facilitate the delineation of political scaling, an analytical distinction between donating and benefiting communities was made using the notions of 'scaling of relevance', 'scaling of reach' and 'scaling of ethics'. Political scaling results at least partly from factors external to research. By situating political scaling in the context of historical, political and local discourses, anthropologists can play a complementary role in genetic epidemiology.

  16. Genetically modified animals from life-science, socio-economic and ethical perspectives: examining issues in an EU policy context

    NARCIS (Netherlands)

    Frewer, L.J.; Kleter, G.A.; Brennan, M.; Coles, D.G.; Fischer, A.R.H.; Houdebine, L.M.; Mora, C.; Millar, K.; Salter, B.

    2013-01-01

    The interdisciplinary EC consortium (the PEGASUS project) aimed to examine the issues raised by the development, implementation and commercialisation of genetically modified (GM) animals, and derivative foods and pharmaceutical products. The results integrated existing social (including existing

  17. Adaptive genetic potential of coniferous forest tree species under climate change: implications for sustainable forest management

    Science.gov (United States)

    Mihai, Georgeta; Birsan, Marius-Victor; Teodosiu, Maria; Dumitrescu, Alexandru; Daia, Mihai; Mirancea, Ionel; Ivanov, Paula; Alin, Alexandru

    2017-04-01

    Mountain ecosystems are extremely vulnerable to climate change. The real potential for adaptation depends upon the existence of a wide genetic diversity in trees populations, upon the adaptive genetic variation, respectively. Genetic diversity offers the guarantee that forest species can survive, adapt and evolve under the influence of changing environmental conditions. The aim of this study is to evaluate the genetic diversity and adaptive genetic potential of two local species - Norway spruce and European silver fir - in the context of regional climate change. Based on data from a long-term provenance experiments network and climate variables spanning over more than 50 years, we have investigated the impact of climatic factors on growth performance and adaptation of tree species. Our results indicate that climatic and geographic factors significantly affect forest site productivity. Mean annual temperature and annual precipitation amount were found to be statistically significant explanatory variables. Combining the additive genetic model with the analysis of nuclear markers we obtained different images of the genetic structure of tree populations. As genetic indicators we used: gene frequencies, genetic diversity, genetic differentiation, genetic variance, plasticity. Spatial genetic analyses have allowed identifying the genetic centers holding high genetic diversity which will be valuable sources of gene able to buffer the negative effects of future climate change. Correlations between the marginal populations and in the optimal vegetation, between the level of genetic diversity and ecosystem stability, will allow the assessment of future risks arising from current genetic structure. Therefore, the strategies for sustainable forest management have to rely on the adaptive genetic variation and local adaptation of the valuable genetic resources. This work was realized within the framework of the project GENCLIM (Evaluating the adaptive potential of the main

  18. Genetic diversity and distribution of Senegalia senegal (L.) Britton under climate change scenarios in West Africa

    Science.gov (United States)

    Duque-Lazo, Joaquín; Durka, Walter; Hauenschild, Frank; Schnitzler, Jan; Michalak, Ingo; Ogundipe, Oluwatoyin Temitayo; Muellner-Riehl, Alexandra Nora

    2018-01-01

    Climate change is predicted to impact species’ genetic diversity and distribution. We used Senegalia senegal (L.) Britton, an economically important species distributed in the Sudano-Sahelian savannah belt of West Africa, to investigate the impact of climate change on intraspecific genetic diversity and distribution. We used ten nuclear and two plastid microsatellite markers to assess genetic variation, population structure and differentiation across thirteen sites in West Africa. We projected suitable range, and potential impact of climate change on genetic diversity using a maximum entropy approach, under four different climate change scenarios. We found higher genetic and haplotype diversity at both nuclear and plastid markers than previously reported. Genetic differentiation was strong for chloroplast and moderate for the nuclear genome. Both genomes indicated three spatially structured genetic groups. The distribution of Senegalia senegal is strongly correlated with extractable nitrogen, coarse fragments, soil organic carbon stock, precipitation of warmest and coldest quarter and mean temperature of driest quarter. We predicted 40.96 to 6.34 per cent of the current distribution to favourably support the species’ ecological requirements under future climate scenarios. Our results suggest that climate change is going to affect the population genetic structure of Senegalia senegal, and that patterns of genetic diversity are going to influence the species’ adaptive response to climate change. Our study contributes to the growing evidence predicting the loss of economically relevant plants in West Africa in the next decades due to climate change. PMID:29659603

  19. 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, ...

  20. Genetic data for groundfish - Genetics and genomics of northeastern Pacific groundfish

    Data.gov (United States)

    National Oceanic and Atmospheric Administration, Department of Commerce — Conduct genetic analyses of groundfish in the northeastern Pacific, with a focus on population genetics and genomics of rockfishes and sablefish. Genetic data for...

  1. Teachers' Conceptions about the Genetic Determinism of Human Behaviour: A Survey in 23 Countries

    Science.gov (United States)

    Castéra, Jérémy; Clément, Pierre

    2014-01-01

    This work analyses the answers to a questionnaire from 8,285 in-service and pre-service teachers from 23 countries, elaborated by the Biohead-Citizen research project, to investigate teachers' conceptions related to the genetic determinism of human behaviour. A principal components analysis is used to assess the main trends in all the interviewed…

  2. Eliminating harmonics in line to line voltage using genetic algorithm using multilevel inverter

    Energy Technology Data Exchange (ETDEWEB)

    Gunasekaran, R. [Excel College of Engineering and Technology, Komarapalayam (India). Electrical and Electronics Engineering; Karthikeyan, C. [K.S. Rangasamy College of Engineering, Tamil Nadu (India). Electrical and Electronics Engineering

    2017-04-15

    In this project the total harmonic distortion (THD) minimization of the multilevel inverters output voltage is discussed. The approach in reducing harmonics contents in inverters output voltage is THD elimination. The switching angles are varied with the fundamental frequency so the output THD is minimized. In three phase applications, the line voltage harmonics are of the main concern from the load point of view. Using a genetic algorithm, a THD minimization process is directly applied to the line to line voltage of the inverter. Genetic (GA) algorithm allows the determination of the optimized parameters and consequently an optimal operating point of the circuit and a wide pass band with a unity gain is obtained.

  3. Direct-to-consumer genetic testing for predicting sports performance and talent identification: Consensus statement

    Science.gov (United States)

    Webborn, Nick; Williams, Alun; McNamee, Mike; Bouchard, Claude; Pitsiladis, Yannis; Ahmetov, Ildus; Ashley, Euan; Byrne, Nuala; Camporesi, Silvia; Collins, Malcolm; Dijkstra, Paul; Eynon, Nir; Fuku, Noriyuki; Garton, Fleur C; Hoppe, Nils; Holm, Søren; Kaye, Jane; Klissouras, Vassilis; Lucia, Alejandro; Maase, Kamiel; Moran, Colin; North, Kathryn N; Pigozzi, Fabio; Wang, Guan

    2015-01-01

    The general consensus among sport and exercise genetics researchers is that genetic tests have no role to play in talent identification or the individualised prescription of training to maximise performance. Despite the lack of evidence, recent years have witnessed the rise of an emerging market of direct-to-consumer marketing (DTC) tests that claim to be able to identify children's athletic talents. Targeted consumers include mainly coaches and parents. There is concern among the scientific community that the current level of knowledge is being misrepresented for commercial purposes. There remains a lack of universally accepted guidelines and legislation for DTC testing in relation to all forms of genetic testing and not just for talent identification. There is concern over the lack of clarity of information over which specific genes or variants are being tested and the almost universal lack of appropriate genetic counselling for the interpretation of the genetic data to consumers. Furthermore independent studies have identified issues relating to quality control by DTC laboratories with different results being reported from samples from the same individual. Consequently, in the current state of knowledge, no child or young athlete should be exposed to DTC genetic testing to define or alter training or for talent identification aimed at selecting gifted children or adolescents. Large scale collaborative projects, may help to develop a stronger scientific foundation on these issues in the future. PMID:26582191

  4. Comparative safety testing of genetically modified foods in a 90-day rat feeding study design allowing the distinction between primary and secondary effects of the new genetic event.

    Science.gov (United States)

    Knudsen, Ib; Poulsen, Morten

    2007-10-01

    This article discusses the wider experiences regarding the usefulness of the 90-day rat feeding study for the testing of whole foods from genetically modified (GM) plant based on data from a recent EU-project [Poulsen, M., Schrøder, M., Wilcks, A., Kroghsbo, S., Lindecrona, R.H., Miller, A., Frenzel, T., Danier, J., Rychlik, M., Shu, Q., Emami, K., Taylor, M., Gatehouse, A., Engel, K.-H., Knudsen, I., 2007a. Safety testing of GM-rice expressing PHA-E lectin using a new animal test design. Food Chem. Toxicol. 45, 364-377; Poulsen, M., Kroghsbo, S., Schrøder, M., Wilcks, A., Jacobsen, H., Miller, A., Frenzel, T., Danier, J., Rychlik, M., Shu, Q., Emami, K., Sudhakar, D., Gatehouse, A., Engel, K.-H., Knudsen, I., 2007b. A 90-day safety in Wistar rats fed genetically modified rice expressing snowdrop lectin Galanthus nivalis (GNA). Food Chem. Toxicol. 45, 350-363; Schrøder, M., Poulsen, M., Wilcks, A., Kroghsbo, S., Miller, A., Frenzel, T., Danier, J., Rychlik, M., Emami, K., Gatehouse, A., Shu, Q., Engel, K.-H., Knudsen, I., 2007. A 90-day safety study of genetically modified rice expressing Cry1Ab protein (Bacillus thuringiensis toxin) in Wistar rats. Food Chem. Toxicol. 45, 339-349]. The overall objective of the project has been to develop and validate the scientific methodology necessary for assessing the safety of foods from genetically modified plants in accordance with the present EU regulation. The safety assessment in the project is combining the results of the 90-day rat feeding study on the GM food with and without spiking with the pure novel gene product, with the knowledge about the identity of the genetic change, the compositional data of the GM food, the results from in-vitro/ex-vivo studies as well as the results from the preceding 28-day toxicity study with the novel gene product, before the hazard characterisation is concluded. The results demonstrated the ability of the 90-day rat feeding study to detect the biological/toxicological effects of the

  5. HUGO urges genetic benefit-sharing.

    Science.gov (United States)

    2000-01-01

    In view of the fact that for-profit enterprise exceeds public expenditures on genetic research and that benefits from the Human Genome Project may accrue only to rich people in rich nations, the HUGO Ethics Committee discussed the necessity of benefit-sharing. Discussions involved case examples ranging from single-gene to multi-factorial disorders and included the difficulties of defining community, especially when multifactorial diseases are involved. The Committee discussed arguments for benefit-sharing, including common heritage, the genome as a common resource, and three types of justice: compensatory, procedural, and distributive. The Committee also discussed the importance of community participation in defining benefit, agreed that companies involved in health have special obligations beyond paying taxes, and recommended they devote 1-3% of net profits to healthcare infrastructure or humanitarian efforts.

  6. Recolonization after habitat restoration leads to decreased genetic variation in populations of a terrestrial orchid.

    Science.gov (United States)

    Vandepitte, K; Gristina, A S; De Hert, K; Meekers, T; Roldán-Ruiz, I; Honnay, O

    2012-09-01

    Colonization is crucial to habitat restoration projects that rely on the spontaneous regeneration of the original vegetation. However, as a previously declining plant species spreads again, the likelihood of founder effects increases through recurrent population founding and associated serial bottlenecks. We related Amplified Fragment Length Polymorphism markers genetic variation and fitness to colonization history for all extant populations of the outcrossing terrestrial orchid Dactylorhiza incarnata in an isolated coastal dune complex. Around 1970, D. incarnata suffered a severe bottleneck yet ultimately persisted and gradually spread throughout the spatially segregated dune slacks, aided by the restoration of an open vegetation. Genetic assignment demonstrated dispersal to vacant sites from few nearby extant populations and very limited inflow from outside the spatially isolated reserve. Results further indicated that recurrent founding from few local sources resulted in the loss of genetic diversity and promoted genetic divergence (F(ST) = 0.35) among populations, but did not influence population fitness. The few source populations initially available and the limited inflow of genes from outside the study reserve, as a consequence of habitat degradation and spatial isolation, may have magnified the genetic effects of recurrent population founding. © 2012 Blackwell Publishing Ltd.

  7. Complementary genetic screens identify the E3 ubiquitin ligase CBLC, as a modifier of PARP inhibitor sensitivity

    Czech Academy of Sciences Publication Activity Database

    Frankum, J.; Moudrý, P.; Brough, R.; Hodný, Zdeněk; Ashworth, A.; Bartek, Jiří; Lord, C.J.

    2015-01-01

    Roč. 6, č. 13 (2015), s. 10746-10758 ISSN 1949-2553 R&D Projects: GA ČR GA13-17555S EU Projects: European Commission HEALTH-F2-2010-259893 Grant - others:Lundbeck Foundation(DK) R93-A8990; Danish Council for Independent Research(DK) DFF-1331-00262 Institutional support: RVO:68378050 Keywords : DNA damage response * ubiquitin-proteasome system * RNA interference screens * PARP inhibitors * CBLC Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 5.008, year: 2015

  8. Distinct genetic control of parasite elimination, dissemination, and disease after Leishmania major infection

    Czech Academy of Sciences Publication Activity Database

    Kurey, Irina; Kobets, Tetyana; Havelková, Helena; Slapničková, Martina; Quan, L.; Trtková, Kateřina; Grekov, Igor; Svobodová, M.; Stassen, A. P. M.; Hutson, A.; Demant, P.; Lipoldová, Marie

    2009-01-01

    Roč. 61, č. 9 (2009), s. 619-633 ISSN 0093-7711 R&D Projects: GA ČR GA310/06/1745; GA MŠk(CZ) LC06009 Grant - others:EC(XE) 05-1000004-7761 Institutional research plan: CEZ:AV0Z50520514 Keywords : Leishmania major * Parasite elimination * QTL mapping Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.988, year: 2009

  9. Prenatal screening and genetics

    DEFF Research Database (Denmark)

    Alderson, P; Aro, A R; Dragonas, T

    2001-01-01

    Although the term 'genetic screening' has been used for decades, this paper discusses how, in its most precise meaning, genetic screening has not yet been widely introduced. 'Prenatal screening' is often confused with 'genetic screening'. As we show, these terms have different meanings, and we...... examine definitions of the relevant concepts in order to illustrate this point. The concepts are i) prenatal, ii) genetic screening, iii) screening, scanning and testing, iv) maternal and foetal tests, v) test techniques and vi) genetic conditions. So far, prenatal screening has little connection...... with precisely defined genetics. There are benefits but also disadvantages in overstating current links between them in the term genetic screening. Policy making and professional and public understandings about screening could be clarified if the distinct meanings of prenatal screening and genetic screening were...

  10. Genetics Home Reference

    Science.gov (United States)

    ... Page Search Home Health Conditions Genes Chromosomes & mtDNA Resources Help Me Understand Genetics Share: Email Facebook Twitter Genetics Home Reference provides consumer-friendly information about the effects of genetic variation on human health. Health Conditions More than 1,200 health ...

  11. Intraspecific variation in the wing shape and genetic differentiation of Reed Warblers Acrocephalus scirpaceus in Croatia

    Czech Academy of Sciences Publication Activity Database

    Kralj, J.; Procházka, Petr; Fainová, Drahomíra; Patzenhauerová, Hana; Tutiš, V.

    2010-01-01

    Roč. 45, č. 1 (2010), s. 51-58 ISSN 0001-6454 R&D Projects: GA AV ČR KJB600930508 Institutional research plan: CEZ:AV0Z60930519 Keywords : wing morphology * migration * microsatellites * genetic diversity Subject RIV: EG - Zoology Impact factor: 0.889, year: 2010

  12. 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.

  13. The elderly health status and its correlation with ageing biomarkers: the European Project Mark-Age

    OpenAIRE

    Pini, Elisa

    2014-01-01

    According to the latest statistics projections formulated by Eurostat, the proportion of elderly EU-27’s population aged over 65 years old is predicted to increase from 17.5 % in 2011 to 29.5 % by 2060. This "population explosion" makes extremely important to identify the different genetic and molecular mechanisms which underpin the morbidity and mortality along with new strategies able to counteract or slow down its progress. In this scenario fits the European Project MARK-AGE who...

  14. [Genetics factors in pathogenesis and clinical genetics of binge eating disorder].

    Science.gov (United States)

    Kibitov, А О; Мazo, G E

    2016-01-01

    Genetic studies have shown that binge eating disorder (ВЕD) aggregates in families, heritability was estimated as about 60% and additive genetic influences on BED up to 50%. Using a genetic approach has proved useful for verifying the diagnostic categories of BED using DSM-IV criteria and supporting the validity of considering this pathology as a separate nosological category. The results confirmed the genetic and pathogenic originality of BED as a separate psychopathological phenomenon, but not a subtype of obesity. It seems fruitful to considerate BED as a disease with hereditary predisposition with significant genetic influence and a complex psychopathological syndrome, including not only eating disorders, but also depressive and addictive component. A possible mechanism of pathogenesis of BED may be the interaction of the neuroendocrine and neurotransmitters systems including the active involvement of the reward system in response to a variety of chronic stress influences with the important modulatory role of specific personality traits. The high level of genetic influence on the certain clinical manifestations of BED confirms the ability to identify the subphenotypes of BED on genetic basis involving clinical criteria. It can not only contribute to further genetic studies, taking into account more homogeneous samples, but also help in finding differentiated therapeutic approaches.

  15. Stocking the genetic supermarket: reproductive genetic technologies and collective action problems.

    Science.gov (United States)

    Gyngell, Chris; Douglas, Thomas

    2015-05-01

    Reproductive genetic technologies (RGTs) allow parents to decide whether their future children will have or lack certain genetic predispositions. A popular model that has been proposed for regulating access to RGTs is the 'genetic supermarket'. In the genetic supermarket, parents are free to make decisions about which genes to select for their children with little state interference. One possible consequence of the genetic supermarket is that collective action problems will arise: if rational individuals use the genetic supermarket in isolation from one another, this may have a negative effect on society as a whole, including future generations. In this article we argue that RGTs targeting height, innate immunity, and certain cognitive traits could lead to collective action problems. We then discuss whether this risk could in principle justify state intervention in the genetic supermarket. We argue that there is a plausible prima facie case for the view that such state intervention would be justified and respond to a number of arguments that might be adduced against that view. © 2014 The Authors. Bioethics published by John Wiley & Sons Ltd.

  16. Morphological analysis of Drosophila larval peripheral sensory neuron dendrites and axons using genetic mosaics.

    Science.gov (United States)

    Karim, M Rezaul; Moore, Adrian W

    2011-11-07

    Nervous system development requires the correct specification of neuron position and identity, followed by accurate neuron class-specific dendritic development and axonal wiring. Recently the dendritic arborization (DA) sensory neurons of the Drosophila larval peripheral nervous system (PNS) have become powerful genetic models in which to elucidate both general and class-specific mechanisms of neuron differentiation. There are four main DA neuron classes (I-IV)(1). They are named in order of increasing dendrite arbor complexity, and have class-specific differences in the genetic control of their differentiation(2-10). The DA sensory system is a practical model to investigate the molecular mechanisms behind the control of dendritic morphology(11-13) because: 1) it can take advantage of the powerful genetic tools available in the fruit fly, 2) the DA neuron dendrite arbor spreads out in only 2 dimensions beneath an optically clear larval cuticle making it easy to visualize with high resolution in vivo, 3) the class-specific diversity in dendritic morphology facilitates a comparative analysis to find key elements controlling the formation of simple vs. highly branched dendritic trees, and 4) dendritic arbor stereotypical shapes of different DA neurons facilitate morphometric statistical analyses. DA neuron activity modifies the output of a larval locomotion central pattern generator(14-16). The different DA neuron classes have distinct sensory modalities, and their activation elicits different behavioral responses(14,16-20). Furthermore different classes send axonal projections stereotypically into the Drosophila larval central nervous system in the ventral nerve cord (VNC)(21). These projections terminate with topographic representations of both DA neuron sensory modality and the position in the body wall of the dendritic field(7,22,23). Hence examination of DA axonal projections can be used to elucidate mechanisms underlying topographic mapping(7,22,23), as well as

  17. A New Approach to Tuning Heuristic Parameters of Genetic Algorithms

    Czech Academy of Sciences Publication Activity Database

    Holeňa, Martin

    2006-01-01

    Roč. 3, č. 3 (2006), s. 562-569 ISSN 1790-0832. [AIKED'06. WSEAS International Conference on Artificial Intelligence , Knowledge Engineering and Data Bases. Madrid, 15.02.2006-17.02.2006] R&D Projects: GA ČR(CZ) GA201/05/0325; GA ČR(CZ) GA201/05/0557 Institutional research plan: CEZ:AV0Z10300504 Keywords : evolutionary optimization * genetic algorithms * heuristic parameters * parameter tuning * artificial neural networks * convergence speed * population diversity Subject RIV: IN - Informatics, Computer Science

  18. Determinants of Excess Genetic Risk of Acute Myocardial Infarction - A Matched Case-Control Study

    Czech Academy of Sciences Publication Activity Database

    Valenta, Zdeněk; Mazura, Ivan; Kolář, M.; Feglarová, Petra; Peleška, Jan; Tomečková, Marie; Kalina, Jan; Slovák, Dalibor; Zvárová, Jana

    2012-01-01

    Roč. 8, č. 1 (2012), s. 34-43 ISSN 1801-5603 R&D Projects: GA MŠk(CZ) 1M06014 Institutional support: RVO:67985807 Keywords : genome-wide association study * gene expression * myocardial infarction * genetic predisposition * predictive modeling Subject RIV: BB - Applied Statistics, Operational Research http://www.ejbi.org/img/ejbi/2012/1/Valenta_en.pdf

  19. Detection of Genetically Modified Food: Has Your Food Been Genetically Modified?

    Science.gov (United States)

    Brandner, Diana L.

    2002-01-01

    Explains the benefits and risks of genetically-modified foods and describes methods for genetically modifying food. Presents a laboratory experiment using a polymerase chain reaction (PCR) test to detect foreign DNA in genetically-modified food. (Contains 18 references.) (YDS)

  20. Abstracts of the 48. Brazilian congress on genetics. Genetics in social inclusion

    International Nuclear Information System (INIS)

    2002-01-01

    Use of radioisotopes and ionizing radiations in genetics is presented. Several aspects related to men, animals, plants and microorganisms are reported highlighting biological radiation effects, evolution, mutagenesis and genetic engineering. Genetic mapping, polymerase chain reaction, gene mutations, genetic diversity, DNA hybridization, DNA sequencing, plant cultivation and plant grow are studied as well

  1. 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)

  2. Genetic gains in physic nut using selection indexes

    Directory of Open Access Journals (Sweden)

    Leonardo Lopes Bhering

    2012-03-01

    Full Text Available The objective of this work was to estimate genetic gains in physic nut (Jatropha curcas using selection indexes and to establish the best selection strategy for the species. Direct and indirect selection was carried out using different selection indexes, totalizing 14 strategies. One hundred and seventy five families from the active germplasm bank of Embrapa Agroenergy, Brasília, Brazil, were analyzed in a randomized complete block design with two replicates. The evaluated traits were: grain yield; seeds per fruit; endosperm/seed ratio; seed weight, length, width, and thickness; branches per plant at 0.5, 1.0, and 1.5 m; plant height; stem diameter; canopy projection on rows and between lines; canopy volume; juvenility (days to the first flowering; and height of the first inflorescence. Evaluations were done during the second year of cultivation. The use of selection indexes is relevant to maximize the genetic gains in physic nut, favoring a better distribution of desirable traits. The multiplicative and restrictive indexes are considered the most promising for selection.

  3. The Transgenic RNAi Project at Harvard Medical School: Resources and Validation.

    Science.gov (United States)

    Perkins, Lizabeth A; Holderbaum, Laura; Tao, Rong; Hu, Yanhui; Sopko, Richelle; McCall, Kim; Yang-Zhou, Donghui; Flockhart, Ian; Binari, Richard; Shim, Hye-Seok; Miller, Audrey; Housden, Amy; Foos, Marianna; Randkelv, Sakara; Kelley, Colleen; Namgyal, Pema; Villalta, Christians; Liu, Lu-Ping; Jiang, Xia; Huan-Huan, Qiao; Wang, Xia; Fujiyama, Asao; Toyoda, Atsushi; Ayers, Kathleen; Blum, Allison; Czech, Benjamin; Neumuller, Ralph; Yan, Dong; Cavallaro, Amanda; Hibbard, Karen; Hall, Don; Cooley, Lynn; Hannon, Gregory J; Lehmann, Ruth; Parks, Annette; Mohr, Stephanie E; Ueda, Ryu; Kondo, Shu; Ni, Jian-Quan; Perrimon, Norbert

    2015-11-01

    To facilitate large-scale functional studies in Drosophila, the Drosophila Transgenic RNAi Project (TRiP) at Harvard Medical School (HMS) was established along with several goals: developing efficient vectors for RNAi that work in all tissues, generating a genome-scale collection of RNAi stocks with input from the community, distributing the lines as they are generated through existing stock centers, validating as many lines as possible using RT-qPCR and phenotypic analyses, and developing tools and web resources for identifying RNAi lines and retrieving existing information on their quality. With these goals in mind, here we describe in detail the various tools we developed and the status of the collection, which is currently composed of 11,491 lines and covering 71% of Drosophila genes. Data on the characterization of the lines either by RT-qPCR or phenotype is available on a dedicated website, the RNAi Stock Validation and Phenotypes Project (RSVP, http://www.flyrnai.org/RSVP.html), and stocks are available from three stock centers, the Bloomington Drosophila Stock Center (United States), National Institute of Genetics (Japan), and TsingHua Fly Center (China). Copyright © 2015 by the Genetics Society of America.

  4. Optimization of genetic algorithm for reconstruction of cross-phase modulation frequency-resolved optical gating data

    Czech Academy of Sciences Publication Activity Database

    Vraný, Boleslav; Honzátko, Pavel; Kaňka, Jiří

    2011-01-01

    Roč. 24, č. 5 (2011), 448-456 ISSN 0894-3370 R&D Projects: GA MŠk OE08021 Institutional research plan: CEZ:AV0Z20670512 Keywords : frequency resolved optical gating, FROG * amplitude and phase retrieval * genetic algorithm, GA Subject RIV: BH - Optics, Masers, Lasers Impact factor: 0.600, year: 2011

  5. Aggressive Behavior between Siblings and the Development of Externalizing Problems: Evidence from a Genetically Sensitive Study

    Science.gov (United States)

    Natsuaki, Misaki N.; Ge, Xiaojia; Reiss, David; Neiderhiser, Jenae M.

    2009-01-01

    This study investigated the prospective links between sibling aggression and the development of externalizing problems using a multilevel modeling approach with a genetically sensitive design. The sample consisted of 780 adolescents (390 sibling pairs) who participated in 2 waves of the Nonshared Environment in Adolescent Development project.…

  6. Dybowski’s sika deer (Cervus nippon hortulorum): genetic divergence between natural Primorian and introduced Czech populations

    Czech Academy of Sciences Publication Activity Database

    Krojerová-Prokešová, Jarmila; Barančeková, Miroslava; Voloshina, I.; Myslenkov, A.; Lamka, J.; Koubek, Petr

    2013-01-01

    Roč. 104, č. 3 (2013), s. 312-326 ISSN 0022-1503 R&D Projects: GA ČR GA524/09/1569 Institutional support: RVO:68081766 Keywords : bottleneck * founder effect * genetic diversity * inbreeding * microsatellites * mtDNA Subject RIV: GI - Animal Husbandry ; Breeding Impact factor: 1.969, year: 2013

  7. Genetic differentiation of Agrostis capillaris in a grassland system with stable heterogeneity due to terricolous ants

    Czech Academy of Sciences Publication Activity Database

    Rothanzl, J.; Kotoučová, M.; Hrabinová, I.; Plačková, Ivana; Herben, Tomáš

    2007-01-01

    Roč. 95, č. 1 (2007), s. 197-207 ISSN 0022-0477 R&D Projects: GA ČR GA206/06/0098 Institutional research plan: CEZ:AV0Z60050516 Keywords : clonal growth * functional differentiation * genetic variation * isozyme markers Subject RIV: EF - Botanics Impact factor: 4.422, year: 2007

  8. Developmental windows and environment as important factors in the expression of genetic information: a cardiovascular physiologist's view

    Czech Academy of Sciences Publication Activity Database

    Kuneš, Jaroslav; Zicha, Josef

    2006-01-01

    Roč. 111, č. 5 (2006), s. 295-305 ISSN 0143-5221 R&D Projects: GA MZd(CZ) NR7786 Institutional research plan: CEZ:AV0Z50110509 Keywords : developmental window * genetic determinants * environmental stimuli Subject RIV: ED - Physiology Impact factor: 3.263, year: 2006

  9. Systematic documentation and analysis of human genetic variation using the microattribution approach

    Science.gov (United States)

    Giardine, Belinda; Borg, Joseph; Higgs, Douglas R.; Peterson, Kenneth R.; Maglott, Donna; Basak, A. Nazli; Clark, Barnaby; Faustino, Paula; Felice, Alex E.; Francina, Alain; Gallivan, Monica V. E.; Georgitsi, Marianthi; Gibbons, Richard J.; Giordano, Piero C.; Harteveld, Cornelis L.; Joly, Philippe; Kanavakis, Emmanuel; Kollia, Panagoula; Menzel, Stephan; Miller, Webb; Moradkhani, Kamran; Old, John; Papachatzopoulou, Adamantia; Papadakis, Manoussos N.; Papadopoulos, Petros; Pavlovic, Sonja; Philipsen, Sjaak; Radmilovic, Milena; Riemer, Cathy; Schrijver, Iris; Stojiljkovic, Maja; Thein, Swee Lay; Traeger-Synodinos, Jan; Tully, Ray; Wada, Takahito; Waye, John; Wiemann, Claudia; Zukic, Branka; Chui, David H. K.; Wajcman, Henri; Hardison, Ross C.; Patrinos, George P.

    2013-01-01

    We developed a series of interrelated locus-specific databases to store all published and unpublished genetic variation related to these disorders, and then implemented microattribution to encourage submission of unpublished observations of genetic variation to these public repositories 1. A total of 1,941 unique genetic variants in 37 genes, encoding globins (HBA2, HBA1, HBG2, HBG1, HBD, HBB) and other erythroid proteins (ALOX5AP, AQP9, ARG2, ASS1, ATRX, BCL11A, CNTNAP2, CSNK2A1, EPAS1, ERCC2, FLT1, GATA1, GPM6B, HAO2, HBS1L, KDR, KL, KLF1, MAP2K1, MAP3K5, MAP3K7, MYB, NOS1, NOS2, NOS3, NOX3, NUP133, PDE7B, SMAD3, SMAD6, and TOX) are currently documented in these databases with reciprocal attribution of microcitations to data contributors. Our project provides the first example of implementing microattribution to incentivise submission of all known genetic variation in a defined system. It has demonstrably increased the reporting of human variants and now provides a comprehensive online resource for systematically describing human genetic variation in the globin genes and other genes contributing to hemoglobinopathies and thalassemias. The large repository of previously reported data, together with more recent data, acquired by microattribution, demonstrates how the comprehensive documentation of human variation will provide key insights into normal biological processes and how these are perturbed in human genetic disease. Using the microattribution process set out here, datasets which took decades to accumulate for the globin genes could be assembled rapidly for other genes and disease systems. The principles established here for the globin gene system will serve as a model for other systems and the analysis of other common and/or complex human genetic diseases. PMID:21423179

  10. Hood River and Pelton Ladder monitoring and evaluation project and Hood River fish habitat project : annual progress report 1999-2000.; ANNUAL

    International Nuclear Information System (INIS)

    Lambert, Michael B.; McCanna, Joseph P.; Jennings, Mick

    2001-01-01

    The Hood River subbasin is home to four species of anadromous salmonids: chinook salmon (Oncorhynchus tshawytscha), coho salmon (Oncorhynchus kisutch), steelhead (Oncorhynchus mykiss), and sea run cutthroat trout (Salmo clarki). Indigenous spring chinook salmon were extirpated during the late 1960's. The naturally spawning spring chinook salmon currently present in the subbasin are progeny of Deschutes stock. Historically, the Hood River subbasin hatchery steelhead program utilized out-of-basin stocks for many years. Indigenous stocks of summer and winter steelhead were listed in March 1998 by National Marine Fisheries Service (NMFS) under the Endangered Species Act (ESA) as a ''Threatened'' Species along with similar genetically similar steelhead in the Lower Columbia Basin. This annual report summarizes work for two consecutive contract periods: the fiscal year (FY) 1999 contract period was 1 October, 1998 through 30 September, 1999 and 1 October, 1999 through 30 September, 2000 for FY 2000. Work implemented during FY 1999 and FY 2000 included (1) acclimation of hatchery spring chinook salmon and hatchery summer and winter steelhead smolts, (2) spring chinook salmon spawning ground surveys on the West Fork Hood River (3) genetic analysis of steelhead and cutthroat[contractual service with the ODFW], (4) Hood River water temperature studies, (5) Oak Springs Hatchery (OSH) and Round Butte Hatchery (RBH) coded-wire tagging and clipping evaluation, (6) preparation of the Hood River Watershed Assessment (Coccoli et al., December 1999) and the Fish Habitat Protection, Restoration, and Monitoring Plan (Coccoli et al., February 2000), (7) project implementation of early action habitat protection and restoration projects, (8) Pelton Ladder evaluation studies, (9) management oversight and guidance to BPA and ODFW engineering on HRPP facilities, and (10) preparation of an annual report summarizing project objectives for FY 1999 and FY 2000

  11. GRIN-Global: An International Project to Develop a Global Plant Genebank Information Management System

    Science.gov (United States)

    The mission of the GRIN-Global Project is to create a new, scalable version of the Germplasm Resource Information System (GRIN) to provide the world’s crop genebanks with a powerful, flexible, easy-to-use plant genetic resource (PGR) information management system. The system will help safeguard PGR ...

  12. [Phylogenetic analysis of CO I gene of Oncomelania snails from project of afforestation for schistosomiasis control in marshland endemic regions].

    Science.gov (United States)

    Xu, Yu-Mei; Zhang, Shi-Qing; Zhu, Chuan-Gang

    2012-04-01

    To investigate the genetic difference of cytochrome oxidase I (CO I ) of Oncomelania snails from the project of afforestation for schistosomiasis control in marshland regions, so as to explore the effects of different ecological environments. The snails were collected from 3 different areas, Anqing, Tongling, Wuwei, i.e. the upstream, midstream and downstream regions along the Yangtz River in Anhui Province. Genomic DNA was extracted from the snails, and CO I gene fragments were amplified by PCR, then purified and sequenced. The sequences were edited by using Blast. The CO I genes of O. h. minima and Biomphalaria glabrata were used as the reference of exogenous gene. The genetic distances of the various regions were calculated by the Kimura method and phylogenetic trees were constructed with UPGMA and the NJ method of MEGA (3.1) software. The amplified CO I gene of the snail was a fragment about 700 bp including 2 primers in length. There were little genetic diversity among the different areas, the identities were higher than or equal to 98%. The genetic distances indicated that the distance between the projects of afforestation and woodland in Anqing was 0.003, while Tongling was 0.019, Wuwei was 0.007. The distances among the three projects of afforestation were 0.003-0.012. The two phylogenetic trees were constructed by the methods of UPGMA and NJ respectively, which took on very similar topo-structure in which isolates of Biomphalaria glabrata located in one clade and all the others in the other one. In the other one clade, O. H. minima located in one clade. There was little genetic diversity among Anqing, Tongling, Wuwei clusters. The afforestations of Anqing and Wuwei clustered into one group, while the woodlands of Anqing and Wuwei appeared as another group. There is a little genetic diversity of the snail cytochrome oxidase I (CO I ) in different ecological environments among the upstream, midstream and downstream regions along the Yangtz River in Anhui

  13. Structure and genetic diversity of natural Brazilian pepper populations (Schinus terebinthifolius Raddi).

    Science.gov (United States)

    Álvares-Carvalho, S V; Duarte, J F; Santos, T C; Santos, R M; Silva-Mann, R; Carvalho, D

    2016-06-17

    In the face of a possible loss of genetic diversity in plants due the environmental changes, actions to ensure the genetic variability are an urgent necessity. The extraction of Brazilian pepper fruits is a cause of concern because it results in the lack of seeds in soil, hindering its distribution in space and time. It is important to address this concern and explore the species, used by riparian communities and agro-factories without considering the need for keeping the seeds for natural seed banks and for species sustainability. The objective of this study was to evaluate the structure and the genetic diversity in natural Brazilian pepper populations (Schinus terebinthifolius Raddi). Twenty-two alleles in 223 individuals were identified from eight forest remnants located in the states of Minas Gerais, Espírito Santo, and Sergipe. All populations presented loci in Hardy-Weinberg equilibrium deviation. Four populations presented six combinations of loci in linkage disequilibrium. Six exclusive alleles were detected in four populations. Analysis of molecular variance showed the absence of diversity between regions and that between the populations (GST) was 41%. Genetic diversity was structured in seven clusters (ΔK7). Brazilian pepper populations were not structured in a pattern of isolation by distance and present genetic bottleneck. The populations São Mateus, Canastra, Barbacena, and Ilha das Flores were identified as management units and may support conservation projects, ecological restoration and in implementation of management plans for Brazilian pepper in the State of Sergipe.

  14. Current issues in medically assisted reproduction and genetics in Europe: research, clinical practice, ethics, legal issues and policy. European Society of Human Genetics and European Society of Human Reproduction and Embryology.

    Science.gov (United States)

    Harper, Joyce C; Geraedts, Joep; Borry, Pascal; Cornel, Martina C; Dondorp, Wybo; Gianaroli, Luca; Harton, Gary; Milachich, Tanya; Kääriäinen, Helena; Liebaers, Inge; Morris, Michael; Sequeiros, Jorge; Sermon, Karen; Shenfield, Françoise; Skirton, Heather; Soini, Sirpa; Spits, Claudia; Veiga, Anna; Vermeesch, Joris Robert; Viville, Stéphane; de Wert, Guido; Macek, Milan

    2013-11-01

    In March 2005, a group of experts from the European Society of Human Genetics and European Society of Human Reproduction and Embryology met to discuss the interface between genetics and assisted reproductive technology (ART), and published an extended background paper, recommendations and two Editorials. Seven years later, in March 2012, a follow-up interdisciplinary workshop was held, involving representatives of both professional societies, including experts from the European Union Eurogentest2 Coordination Action Project. The main goal of this meeting was to discuss developments at the interface between clinical genetics and ARTs. As more genetic causes of reproductive failure are now recognised and an increasing number of patients undergo testing of their genome before conception, either in regular health care or in the context of direct-to-consumer testing, the need for genetic counselling and preimplantation genetic diagnosis (PGD) may increase. Preimplantation genetic screening (PGS) thus far does not have evidence from randomised clinical trials to substantiate that the technique is both effective and efficient. Whole-genome sequencing may create greater challenges both in the technological and interpretational domains, and requires further reflection about the ethics of genetic testing in ART and PGD/PGS. Diagnostic laboratories should be reporting their results according to internationally accepted accreditation standards (International Standards Organisation - ISO 15189). Further studies are needed in order to address issues related to the impact of ART on epigenetic reprogramming of the early embryo. The legal landscape regarding assisted reproduction is evolving but still remains very heterogeneous and often contradictory. The lack of legal harmonisation and uneven access to infertility treatment and PGD/PGS fosters considerable cross-border reproductive care in Europe and beyond. The aim of this paper is to complement previous publications and provide

  15. Genetics education for non-genetic health care professionals in the Netherlands

    NARCIS (Netherlands)

    Plass, Anne Marie C.; Baars, Marieke J. H.; Beemer, Frits A.; ten Kate, Leo P.

    2006-01-01

    OBJECTIVE: The aim of the present study was to investigate whether medical care providers in the Netherlands are adequately educated in genetics by collecting information about the current state of genetics education of non-genetics health care professionals. METHOD: The curricula of the 8

  16. Reassessing insurers' access to genetic information: genetic privacy, ignorance, and injustice.

    Science.gov (United States)

    Feiring, Eli

    2009-06-01

    Many countries have imposed strict regulations on the genetic information to which insurers have access. Commentators have warned against the emerging body of legislation for different reasons. This paper demonstrates that, when confronted with the argument that genetic information should be available to insurers for health insurance underwriting purposes, one should avoid appeals to rights of genetic privacy and genetic ignorance. The principle of equality of opportunity may nevertheless warrant restrictions. A choice-based account of this principle implies that it is unfair to hold people responsible for the consequences of the genetic lottery, since we have no choice in selecting our genotype or the expression of it. However appealing, this view does not take us all the way to an adequate justification of inaccessibility of genetic information. A contractarian account, suggesting that health is a condition of opportunity and that healthcare is an essential good, seems more promising. I conclude that if or when predictive medical tests (such as genetic tests) are developed with significant actuarial value, individuals have less reason to accept as fair institutions that limit access to healthcare on the grounds of risk status. Given the assumption that a division of risk pools in accordance with a rough estimate of people's level of (genetic) risk will occur, fairness and justice favour universal health insurance based on solidarity.

  17. The ABCs of Math: A Genetic Analysis of Mathematics and Its Links With Reading Ability and General Cognitive Ability

    Science.gov (United States)

    Hart, Sara A.; Petrill, Stephen A.; Thompson, Lee A.; Plomin, Robert

    2009-01-01

    The goal of this first major report from the Western Reserve Reading Project Math component is to explore the etiology of the relationship among tester-administered measures of mathematics ability, reading ability, and general cognitive ability. Data are available on 314 pairs of monozygotic and same-sex dizygotic twins analyzed across 5 waves of assessment. Univariate analyses provide a range of estimates of genetic (h2 = .00 –.63) and shared (c2 = .15–.52) environmental influences across math calculation, fluency, and problem solving measures. Multivariate analyses indicate genetic overlap between math problem solving with general cognitive ability and reading decoding, whereas math fluency shares significant genetic overlap with reading fluency and general cognitive ability. Further, math fluency has unique genetic influences. In general, math ability has shared environmental overlap with general cognitive ability and decoding. These results indicate that aspects of math that include problem solving have different genetic and environmental influences than math calculation. Moreover, math fluency, a timed measure of calculation, is the only measured math ability with unique genetic influences. PMID:20157630

  18. Basic concepts of medical genetics, formal genetics, Part 1

    African Journals Online (AJOL)

    Mohammad Saad Zaghloul Salem

    2013-11-15

    Nov 15, 2013 ... maps of gene loci based on information gathered, formerly, ... represented as figure or text interface data. Relevant ... The Egyptian Journal of Medical Human Genetics ... prophylactic management and genetic counseling. 17.

  19. Accelerating Precision Drug Development and Drug Repurposing by Leveraging Human Genetics.

    Science.gov (United States)

    Pulley, Jill M; Shirey-Rice, Jana K; Lavieri, Robert R; Jerome, Rebecca N; Zaleski, Nicole M; Aronoff, David M; Bastarache, Lisa; Niu, Xinnan; Holroyd, Kenneth J; Roden, Dan M; Skaar, Eric P; Niswender, Colleen M; Marnett, Lawrence J; Lindsley, Craig W; Ekstrom, Leeland B; Bentley, Alan R; Bernard, Gordon R; Hong, Charles C; Denny, Joshua C

    2017-04-01

    The potential impact of using human genetic data linked to longitudinal electronic medical records on drug development is extraordinary; however, the practical application of these data necessitates some organizational innovations. Vanderbilt has created resources such as an easily queried database of >2.6 million de-identified electronic health records linked to BioVU, which is a DNA biobank with more than 230,000 unique samples. To ensure these data are used to maximally benefit and accelerate both de novo drug discovery and drug repurposing efforts, we created the Accelerating Drug Development and Repurposing Incubator, a multidisciplinary think tank of experts in various therapeutic areas within both basic and clinical science as well as experts in legal, business, and other operational domains. The Incubator supports a diverse pipeline of drug indication finding projects, leveraging the natural experiment of human genetics.

  20. GSTM1, GSTP1, and GSTT1 genetic variability in Turkish and worldwide populations.

    Science.gov (United States)

    Karaca, Sefayet; Karaca, Mehmet; Cesuroglu, Tomris; Erge, Sema; Polimanti, Renato

    2015-01-01

    Glutathione S-transferase (GST) variants have been widely investigated to better understand their role in several pathologic conditions. To our knowledge, no data about these genetic polymorphisms within the Turkish population are currently available. The aim of this study was to analyze GSTM1 positive/null, GSTT1 positive/null, GSTP1*I105V (rs1695), and GSTP1*A114V (rs1138272) variants in the general Turkish population, to provide information about its genetic diversity, and predisposition to GST-related diseases. Genotyping was performed in 500 Turkish individuals using the Sequenom MassARRAY platform. A comparative analysis was executed using the data from the HapMap and Human Genome Diversity Projects (HGDP). Sequence variation was deeply explored using the Phase 1 data of the 1,000 Genomes Project. The variability of GSTM1, GSTT1, and GSTP1 polymorphisms in the Turkish population was similar to that observed in Central Asian, European, and Middle Eastern populations. The high linkage disequilibrium between GSTP1*I105V and GSTP1*A114V in these populations may have a confounding effect on GSTP1 genetic association studies. In analyzing GSTM1, GSTT1, and GSTP1 sequence variation, we observed other common functional variants that may be candidates for associated studies of diseases related to GST genes (e.g., cancer, cardiovascular disease, and allergy). This study provides novel data about GSTM1 positive/null, GSTT1 positive/null, GSTP1*I105V, and GSTP1*A114V variants in the Turkish population, and other functional variants that may affect GSTM1, GSTT1, and GSTP1 functions among worldwide populations. This information can assist in the design of future genetic association studies investigating oxidative stress-related diseases. © 2014 Wiley Periodicals, Inc.

  1. Radiation induced mutants in elite genetic background for the augmentation of genetic diversity

    International Nuclear Information System (INIS)

    Kumar, V.; Bhagwat, S.G.

    2011-01-01

    Rice (Oryza sativa L.), an important food crop for India, shows large genetic diversity. However, despite the large genetic resource, high genetic similarity is reported in cultivated varieties indicating genetic erosion. Radiation induced mutations provide genetic variability in elite background. In the present study, twenty gamma ray induced mutants of rice variety WL112 (carrying sd-1 semi-dwarfing gene) were analysed for genetic diversity using microsatellite markers. The high range of genetic diversity among mutants indicated that the mutants possess potential for enhancing variability in rice. Cluster analysis showed presence of five clusters having small sub-clusters. Earliness, semi-dwarf stature or resistance to blast disease observed among the mutants showed that these will be useful in breeding programmes. (author)

  2. Demography and genetic diversity of the Mexican black iguana Ctenosaura pectinata

    OpenAIRE

    Aguirre-Hlidalgo, Victor

    2008-01-01

    The hunting of the black iguana (Ctenosaura pectinata) in some regions of Mexico constitutes an acute problem because mature, gravid females arc killed and eaten just before they lay their eggs. This practice thus impacts both the survival of adults and the otherwise imminent recruitment of new individuals to the population. The objective of this project was to compare the demographic behaviour and the genetic variability of two population of the black iguana, one protected and...

  3. Automatic Creation of Machine Learning Workflows with Strongly Typed Genetic Programming

    Czech Academy of Sciences Publication Activity Database

    Křen, T.; Pilát, M.; Neruda, Roman

    2017-01-01

    Roč. 26, č. 5 (2017), č. článku 1760020. ISSN 0218-2130 R&D Projects: GA ČR GA15-19877S Grant - others:GA MŠk(CZ) LM2015042 Institutional support: RVO:67985807 Keywords : genetic programming * machine learning workflows * asynchronous evolutionary algorithm Subject RIV: IN - Informatics, Computer Science OBOR OECD: Computer sciences, information science, bioinformathics (hardware development to be 2.2, social aspect to be 5.8) Impact factor: 0.778, year: 2016

  4. Genetic fuzzy system modeling and simulation of vascular behaviour

    DEFF Research Database (Denmark)

    Tang, Jiaowei; Boonen, Harrie C.M.

    Background: The purpose of our project is to identify the rule sets and their interaction within the framework of cardiovascular function. By an iterative process of computational simulation and experimental work, we strive to mimic the physiological basis for cardiovascular adaptive changes in c...... the pressure change of different blood vessels. Conclusion: Genetic fuzzy system is one of potential modeling methods in modeling and simulation of vascular behavior.......Background: The purpose of our project is to identify the rule sets and their interaction within the framework of cardiovascular function. By an iterative process of computational simulation and experimental work, we strive to mimic the physiological basis for cardiovascular adaptive changes...... in cardiovascular disease and ultimately improve pharmacotherapy. For this purpose, novel computational approaches incorporating adaptive properties, auto-regulatory control and rule sets will be assessed, properties that are commonly lacking in deterministic models based on differential equations. We hypothesize...

  5. Genetic, Biochemical and Environmental Factors Associated with Pregnancy Outcomes in Newborns from the Czech Republic

    Czech Academy of Sciences Publication Activity Database

    Rössner ml., Pavel; Tabashidze, Nana; Dostál, Miroslav; Nováková, Zuzana; Chvátalová, Irena; Špátová, Milada; Šrám, Radim

    2011-01-01

    Roč. 119, č. 2 (2011), s. 265-271 ISSN 0091-6765 R&D Projects: GA MŽP(CZ) SP/1B3/50/07 Institutional research plan: CEZ:AV0Z50390512 Keywords : air pollution * biomarkers * genetic polymorphisms Subject RIV: DN - Health Impact of the Environment Quality Impact factor: 7.036, year: 2011

  6. Norway spruce (Picea abies) genetic transformation with modified Cry3A gene of Bacillus thuringiensis

    Czech Academy of Sciences Publication Activity Database

    Bříza, Jindřich; Pavingerová, Daniela; Vlasák, Josef; Niedermeierová, Hana

    2013-01-01

    Roč. 60, č. 3 (2013), s. 395-400 ISSN 0001-527X R&D Projects: GA MZe QH71290; GA ČR(CZ) GAP502/11/1471 Institutional support: RVO:60077344 Keywords : Cry3A gene modification * Picea abies * Agrobacterium tumefaciens Subject RIV: EB - Genetic s ; Molecular Biology Impact factor: 1.389, year: 2013

  7. Genetics of nonsyndromic obesity.

    Science.gov (United States)

    Lee, Yung Seng

    2013-12-01

    Common obesity is widely regarded as a complex, multifactorial trait influenced by the 'obesogenic' environment, sedentary behavior, and genetic susceptibility contributed by common and rare genetic variants. This review describes the recent advances in understanding the role of genetics in obesity. New susceptibility loci and genetic variants are being uncovered, but the collective effect is relatively small and could not explain most of the BMI heritability. Yet-to-be identified common and rare variants, epistasis, and heritable epigenetic changes may account for part of the 'missing heritability'. Evidence is emerging about the role of epigenetics in determining obesity susceptibility, mediating developmental plasticity, which confers obesity risk from early life experiences. Genetic prediction scores derived from selected genetic variants, and also differential DNA methylation levels and methylation scores, have been shown to correlate with measures of obesity and response to weight loss intervention. Genetic variants, which confer susceptibility to obesity-related morbidities like nonalcoholic fatty liver disease, were also discovered recently. We can expect discovery of more rare genetic variants with the advent of whole exome and genome sequencing, and also greater understanding of epigenetic mechanisms by which environment influences genetic expression and which mediate the gene-environment interaction.

  8. An Automated Defect Prediction Framework using Genetic Algorithms: A Validation of Empirical Studies

    Directory of Open Access Journals (Sweden)

    Juan Murillo-Morera

    2016-05-01

    Full Text Available Today, it is common for software projects to collect measurement data through development processes. With these data, defect prediction software can try to estimate the defect proneness of a software module, with the objective of assisting and guiding software practitioners. With timely and accurate defect predictions, practitioners can focus their limited testing resources on higher risk areas. This paper reports the results of three empirical studies that uses an automated genetic defect prediction framework. This framework generates and compares different learning schemes (preprocessing + attribute selection + learning algorithms and selects the best one using a genetic algorithm, with the objective to estimate the defect proneness of a software module. The first empirical study is a performance comparison of our framework with the most important framework of the literature. The second empirical study is a performance and runtime comparison between our framework and an exhaustive framework. The third empirical study is a sensitivity analysis. The last empirical study, is our main contribution in this paper. Performance of the software development defect prediction models (using AUC, Area Under the Curve was validated using NASA-MDP and PROMISE data sets. Seventeen data sets from NASA-MDP (13 and PROMISE (4 projects were analyzed running a NxM-fold cross-validation. A genetic algorithm was used to select the components of the learning schemes automatically, and to assess and report the results. Our results reported similar performance between frameworks. Our framework reported better runtime than exhaustive framework. Finally, we reported the best configuration according to sensitivity analysis.

  9. Global and disease-associated genetic variation in the human Fanconi anemia gene family.

    Science.gov (United States)

    Rogers, Kai J; Fu, Wenqing; Akey, Joshua M; Monnat, Raymond J

    2014-12-20

    Fanconi anemia (FA) is a human recessive genetic disease resulting from inactivating mutations in any of 16 FANC (Fanconi) genes. Individuals with FA are at high risk of developmental abnormalities, early bone marrow failure and leukemia. These are followed in the second and subsequent decades by a very high risk of carcinomas of the head and neck and anogenital region, and a small continuing risk of leukemia. In order to characterize base pair-level disease-associated (DA) and population genetic variation in FANC genes and the segregation of this variation in the human population, we identified 2948 unique FANC gene variants including 493 FA DA variants across 57,240 potential base pair variation sites in the 16 FANC genes. We then analyzed the segregation of this variation in the 7578 subjects included in the Exome Sequencing Project (ESP) and the 1000 Genomes Project (1KGP). There was a remarkably high frequency of FA DA variants in ESP/1KGP subjects: at least 1 FA DA variant was identified in 78.5% (5950 of 7578) individuals included in these two studies. Six widely used functional prediction algorithms correctly identified only a third of the known, DA FANC missense variants. We also identified FA DA variants that may be good candidates for different types of mutation-specific therapies. Our results demonstrate the power of direct DNA sequencing to detect, estimate the frequency of and follow the segregation of deleterious genetic variation in human populations. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  10. What Is Genetic Ancestry Testing?

    Science.gov (United States)

    ... What is genetic ancestry testing? What is genetic ancestry testing? Genetic ancestry testing, or genetic genealogy, is ... with other groups. For more information about genetic ancestry testing: The University of Utah provides video tutorials ...

  11. 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.

  12. Determination of genetic differences between fluid and nonfluid variants of Clavibacter michiganensis subsp. sepedonicus using rep-PCR technique

    Czech Academy of Sciences Publication Activity Database

    Fousek, Jan; Mráz, Ivan

    2003-01-01

    Roč. 48, - (2003), s. 682-686 ISSN 0015-5632 R&D Projects: GA ČR GA522/00/0887; GA AV ČR IBS5051014 Keywords : Clavibacter michiganensis * genetic markers Subject RIV: EE - Microbiology, Virology Impact factor: 0.857, year: 2003

  13. 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.…

  14. Size matters: the ethical, legal, and social issues surrounding large-scale genetic biobank initiatives

    Directory of Open Access Journals (Sweden)

    Klaus Lindgaard Hoeyer

    2012-04-01

    Full Text Available During the past ten years the complex ethical, legal and social issues (ELSI typically surrounding large-scale genetic biobank research initiatives have been intensely debated in academic circles. In many ways genetic epidemiology has undergone a set of changes resembling what in physics has been called a transition into Big Science. This article outlines consequences of this transition and suggests that the change in scale implies challenges to the roles of scientists and public alike. An overview of key issues is presented, and it is argued that biobanks represent not just scientific endeavors with purely epistemic objectives, but also political projects with social implications. As such, they demand clever maneuvering among social interests to succeed.

  15. Improved Cost-Base Design of Water Distribution Networks using Genetic Algorithm

    Science.gov (United States)

    Moradzadeh Azar, Foad; Abghari, Hirad; Taghi Alami, Mohammad; Weijs, Steven

    2010-05-01

    Population growth and progressive extension of urbanization in different places of Iran cause an increasing demand for primary needs. The water, this vital liquid is the most important natural need for human life. Providing this natural need is requires the design and construction of water distribution networks, that incur enormous costs on the country's budget. Any reduction in these costs enable more people from society to access extreme profit least cost. Therefore, investment of Municipal councils need to maximize benefits or minimize expenditures. To achieve this purpose, the engineering design depends on the cost optimization techniques. This paper, presents optimization models based on genetic algorithm(GA) to find out the minimum design cost Mahabad City's (North West, Iran) water distribution network. By designing two models and comparing the resulting costs, the abilities of GA were determined. the GA based model could find optimum pipe diameters to reduce the design costs of network. Results show that the water distribution network design using Genetic Algorithm could lead to reduction of at least 7% in project costs in comparison to the classic model. Keywords: Genetic Algorithm, Optimum Design of Water Distribution Network, Mahabad City, Iran.

  16. Decoding the non-coding genome: elucidating genetic risk outside the coding genome.

    Science.gov (United States)

    Barr, C L; Misener, V L

    2016-01-01

    Current evidence emerging from genome-wide association studies indicates that the genetic underpinnings of complex traits are likely attributable to genetic variation that changes gene expression, rather than (or in combination with) variation that changes protein-coding sequences. This is particularly compelling with respect to psychiatric disorders, as genetic changes in regulatory regions may result in differential transcriptional responses to developmental cues and environmental/psychosocial stressors. Until recently, however, the link between transcriptional regulation and psychiatric genetic risk has been understudied. Multiple obstacles have contributed to the paucity of research in this area, including challenges in identifying the positions of remote (distal from the promoter) regulatory elements (e.g. enhancers) and their target genes and the underrepresentation of neural cell types and brain tissues in epigenome projects - the availability of high-quality brain tissues for epigenetic and transcriptome profiling, particularly for the adolescent and developing brain, has been limited. Further challenges have arisen in the prediction and testing of the functional impact of DNA variation with respect to multiple aspects of transcriptional control, including regulatory-element interaction (e.g. between enhancers and promoters), transcription factor binding and DNA methylation. Further, the brain has uncommon DNA-methylation marks with unique genomic distributions not found in other tissues - current evidence suggests the involvement of non-CG methylation and 5-hydroxymethylation in neurodevelopmental processes but much remains unknown. We review here knowledge gaps as well as both technological and resource obstacles that will need to be overcome in order to elucidate the involvement of brain-relevant gene-regulatory variants in genetic risk for psychiatric disorders. © 2015 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society.

  17. SNP and haplotype mapping for genetic analysis in the rat

    Czech Academy of Sciences Publication Activity Database

    Saar, K.; Beck, A.; Bihoreau, M. T.; Birney, E.; Brocklebank, D.; Chen, Y.; Cuppen, E.; Demonchy, S.; Dopazo, J.; Flicek, P.; Foglio, M.; Fujiyama, A.; Gut, I. G.; Gauguier, D.; Guigo, R.; Guryev, V.; Heinig, M.; Hummel, O.; Jahn, N.; Klages, S.; Křen, Vladimír; Kube, M.; Kuhl, H.; Kuramoto, T.; Pravenec, Michal

    2008-01-01

    Roč. 40, č. 5 (2008), s. 560-566 ISSN 1061-4036 R&D Projects: GA MŠk(CZ) 1P05ME791; GA MŠk(CZ) 1M0520; GA MŠk(CZ) ME08006 Grant - others:HHMI(US) 55005624; -(XE) LSHG-CT-2005-019015 Institutional research plan: CEZ:AV0Z50110509 Source of funding: N - neverejné zdroje ; R - rámcový projekt EK Keywords : SNP * rat * complete map Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 30.259, year: 2008

  18. Genetic analysis of metabolic defects in the spontaneously hypertensive rat

    Czech Academy of Sciences Publication Activity Database

    Pravenec, Michal; Zídek, Václav; Musilová, Alena; Šimáková, Miroslava; Kostka, Vlastimil; Mlejnek, Petr; Křen, Vladimír; Křenová, D.; Bílá, V.; Míková, B.; Jáchymová, M.; Horký, K.; Kazdová, L.; St.Lezin, E.; Kurtz, W. T.

    2002-01-01

    Roč. 13, č. 5 (2002), s. 253-258 ISSN 0938-8990 R&D Projects: GA MŠk LN00A079; GA ČR GV204/98/K015; GA ČR GA305/00/1646; GA MŠk NB5299 Grant - others:NIH(US) RO1 HL56028; NIH(US) PO1 HL35018; HHMI(US) 55000331 Institutional research plan: CEZ:AV0Z5011922 Keywords : metabolic defects * spontaneously hypertensive rat Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 2.233, year: 2002

  19. The Virtual Genetics Lab II: Improvements to a Freely Available Software Simulation of Genetics

    Science.gov (United States)

    White, Brian T.

    2012-01-01

    The Virtual Genetics Lab II (VGLII) is an improved version of the highly successful genetics simulation software, the Virtual Genetics Lab (VGL). The software allows students to use the techniques of genetic analysis to design crosses and interpret data to solve realistic genetics problems involving a hypothetical diploid insect. This is a brief…

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

    Science.gov (United States)

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

    2010-01-01

    SUMMARY 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 people already known or suspected to have epilepsy (diagnostic testing), or to predict onset of epilepsy in people at risk because of a family history (predictive testing). Although genetic testing has many potential benefits, it also has potential harms, and assessment of these potential benefits and harms in particular situations is complex. Moreover, many treating clinicians are unfamiliar with the types of tests available, how to access them, how to decide whether they should be offered, and what measures should be used to maximize benefit and minimize harm to their patients. Because the field is moving rapidly, with new information emerging practically every day, we present a framework for considering the clinical utility of genetic testing that can be applied to many different syndromes and clinical contexts. Given the current state of knowledge, genetic testing has high0020clinical utility in few clinical contexts, but in some of these it carries implications for daily clinical practice. PMID:20100225

  1. Genetic parameters and estimated genetic gains in young rubber tree progenies

    Directory of Open Access Journals (Sweden)

    Cecília Khusala Verardi

    2013-04-01

    Full Text Available The objective of this work was to assess the genetic parameters and to estimate genetic gains in young rubber tree progenies. The experiments were carried out during three years, in a randomized block design, with six replicates and ten plants per plot, in three representative Hevea crop regions of the state of São Paulo, Brazil. Twenty-two progenies were evaluated, from three to five years old, for rubber yield and annual girth growth. Genetic gain was estimated with the multi-effect index (MEI. Selection by progenies means provided greater estimated genetic gain than selection based on individuals, since heritability values of progeny means were greater than the ones of individual heritability, for both evaluated variables, in all the assessment years. The selection of the three best progenies for rubber yield provided a selection gain of 1.28 g per plant. The genetic gains estimated with MEI using data from early assessments (from 3 to 5-year-old were generally high for annual girth growth and rubber yield. The high genetic gains for annual girth growth in the first year of assessment indicate that progenies can be selected at the beginning of the breeding program. Population effective size was consistent with the three progenies selected, showing that they were not related and that the population genetic variability is ensured. Early selection with the genetic gains estimated by MEI can be made on rubber tree progenies.

  2. Terpsichore. ENEA's autonomous robotics project; Progetto Tersycore, la robotica autonoma

    Energy Technology Data Exchange (ETDEWEB)

    Taraglio, S; Zanela, S; Santini, A; Nanni, V [ENEA, Centro Ricerche Casaccia, Rome (Italy). Div. Robotica e Informatica Avanzata

    1999-10-01

    The article presents some of the Terpsichore project's results aimed to developed and test algorithms and applications for autonomous robotics. Four applications are described: dynamic mapping of a building's interior through the use of ultrasonic sensors; visual drive of an autonomous robot via a neural network controller; a neural network-based stereo vision system that steers a robot through unknown indoor environments; and the evolution of intelligent behaviours via the genetic algorithm approach.

  3. Plant Breeding and Genetics Newsletter, No. 29, July 2012

    International Nuclear Information System (INIS)

    2012-07-01

    Human population growth is projected to reach a staggering nine billion people by 2050. Who will feed the growing billions; how can more food be produced on less land; how can we protect crop yields from climate variability, pests and diseases? These are major issues of our generation. Thus, the theme of this year's Scientific Forum at the IAEA General Conference in September will be devoted to Food Security in all its aspects. Mutation breeding has played a major role in improving crops and stabilizing food security concerns worldwide. Classic examples are improved yields brought about by semi-dwarf mutant varieties of wheat and rice in the mid-twentieth century, which created the 'Green Revolution'. Mutation induction via irradiation is an established method in providing useful variation for crop improvement, despite this the sought after mutant is a rare event. Today these mutants can be detected efficiently using high-throughput phenotyping and genotyping methods. Read more about the direct involvement of the Plant Breeding and Genetics Laboratory in Seibersdorf pertaining to developing technology packages, and providing training and service to tackle the above mentioned topics in this issue. Also, we are proud to announce the 50th Anniversary of the Agency's laboratories in Seibersdorf, you will find more about this event in the News section inside this issue. In the section on Technical Cooperation Projects (TC) I want to highlight the first Coordination Meeting for the IAEA/RCA regional TC project RAS/5/056 on Supporting Mutation Breeding Approaches to Develop New Crop Varieties Adaptable to Climate Change. This regional TC project is a fully integrated endeavour between the Plant Breeding and Genetics Section and the Soil, Water Management and Crop Nutrition Section. This new TC project RAS/5/056 is a follow-up of the recently closed project RAS/5/045. Within this previous project, well characterized mutant lines improved for important agronomic traits such

  4. 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.

  5. 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

  6. Comparison of genetic variability between Czech and foreign isolates of phytopathogenic bacteria Clavibacter michiganensis subsp. sepedonicus by Rep-PCR technique

    Czech Academy of Sciences Publication Activity Database

    Fousek, Jan; Mráz, Ivan; Petrzik, Karel

    2002-01-01

    Roč. 47, - (2002), s. 450-454 ISSN 0015-5632 R&D Projects: GA ČR GA522/00/0887 Keywords : Clavibacter michiganensis * genetic variability Subject RIV: EE - Microbiology, Virology Impact factor: 0.979, year: 2002

  7. A toolkit for incorporating genetics into mainstream medical services: Learning from service development pilots in England.

    Science.gov (United States)

    Bennett, Catherine L; Burke, Sarah E; Burton, Hilary; Farndon, Peter A

    2010-05-14

    As advances in genetics are becoming increasingly relevant to mainstream healthcare, a major challenge is to ensure that these are integrated appropriately into mainstream medical services. In 2003, the Department of Health for England announced the availability of start-up funding for ten 'Mainstreaming Genetics' pilot services to develop models to achieve this. Multiple methods were used to explore the pilots' experiences of incorporating genetics which might inform the development of new services in the future. A workshop with project staff, an email questionnaire, interviews and a thematic analysis of pilot final reports were carried out. Seven themes relating to the integration of genetics into mainstream medical services were identified: planning services to incorporate genetics; the involvement of genetics departments; the establishment of roles incorporating genetic activities; identifying and involving stakeholders; the challenges of working across specialty boundaries; working with multiple healthcare organisations; and the importance of cultural awareness of genetic conditions. Pilots found that the planning phase often included the need to raise awareness of genetic conditions and services and that early consideration of organisational issues such as clinic location was essential. The formal involvement of genetics departments was crucial to success; benefits included provision of clinical and educational support for staff in new roles. Recruitment and retention for new roles outside usual career pathways sometimes proved difficult. Differences in specialties' working practices and working with multiple healthcare organisations also brought challenges such as the 'genetic approach' of working with families, incompatible record systems and different approaches to health professionals' autonomous practice. 'Practice points' have been collated into a Toolkit which includes resources from the pilots, including job descriptions and clinical tools. These can

  8. New technologies provide insights into genetic basis of psychiatric disorders and explain their co-morbidity.

    Science.gov (United States)

    Rudan, Igor

    2010-06-01

    The completion of Human Genome Project and the "HapMap" project was followed by translational activities from companies within the private sector. This led to the introduction of genome-wide scans based on hundreds of thousands of single nucleotide polymorphysms (SNP). These scans were based on common genetic variants in human populations. This new and powerful technology was then applied to the existing DNA-based datasets with information on psychiatric disorders. As a result, an unprecedented amount of novel scientific insights related to the underlying biology and genetics of psychiatric disorders was obtained. The dominant design of these studies, so called "genome-wide association studies" (GWAS), used statistical methods which minimized the risk of false positive reports and provided much greater power to detect genotype-phenotype associations. All findings were entirely data-driven rather than hypothesis-driven, which often made it difficult for researchers to understand or interpret the findings. Interestingly, this work in genetics is indicating how non-specific some genes are for psychiatric disorders, having associations in common for schizophrenia, bipolar disorder and autism. This suggests that the earlier stages of psychiatric disorders may be multi-valent and that early detection, coupled with a clearer understanding of the environmental factors, may allow prevention. At the present time, the rich "harvest" from GWAS still has very limited power to predict the variation in psychiatric disease status at individual level, typically explaining less than 5% of the total risk variance. The most recent studies of common genetic variation implicated the role of major histocompatibility complex in schizophrenia and other disorders. They also provided molecular evidence for a substantial polygenic component to the risk of psychiatric diseases, involving thousands of common alleles of very small effect. The studies of structural genetic variation, such as copy

  9. Teachers' Conceptions About the Genetic Determinism of Human Behaviour: A Survey in 23 Countries

    Science.gov (United States)

    Castéra, Jérémy; Clément, Pierre

    2014-02-01

    This work analyses the answers to a questionnaire from 8,285 in-service and pre-service teachers from 23 countries, elaborated by the Biohead-Citizen research project, to investigate teachers' conceptions related to the genetic determinism of human behaviour. A principal components analysis is used to assess the main trends in all the interviewed teachers' conceptions. This illustrates that innatism is present in two distinct ways: in relation to individuals (e.g. genetic determinism to justify intellectual likeness between individuals such as twins) or in relation to groups of humans (e.g. genetic determinism to justify gender differences or the superiority of some human ethnic groups). A between-factor analysis discriminates between countries, showing very significant differences. There is more innatism among teachers' conceptions in African countries and Lebanon than in European countries, Brazil and Australia. Among the other controlled parameters, only two are significantly independent of the country: the level of training and the level of knowledge of biology. A co-inertia analysis shows a strong correlation between non-citizen attitudes towards and innatist conceptions of genetic determinism regarding human groups. We discuss these findings and their implications for education.

  10. Genomics as public health? Community genetics and the challenge of personalised medicine in Cuba.

    Science.gov (United States)

    Gibbon, Sahra

    2009-08-01

    Making use of a comparative perspective on the emergence of 'breast cancer genetics' in the different cultural context of the UK and Cuba, this article examines the tensions between the modern promise of genomics as personalised medicine and a commitment to public health. Focusing primarily on the Cuba context and drawing on ethnographic research as part of a collaborative project working with genetic professionals and publics, the article examines the particular technologies, identities and socialities at stake in an emerging and evolving field of genetic medicine. It highlights how long-standing continuities in the commitment to the equitable provision of public health, particularly as this relates to 'family medicine', are central to understanding the scope and expansion of 'community genetics' interventions, even when at the level of local practice, public health is also now subject to the unequal dynamics of economic necessity through the working out of 'lo informal'. Illuminating the different ways agency, risk, responsibility, citizenship and activism get configured by and between publics and health professionals in Cuba, the article reveals the challenges and opportunities posed by predictive genomic medicine in relation to the dynamic and shifting terrain of public health.

  11. Dating Antarctic ice sheet collapse: Proposing a molecular genetic approach

    Science.gov (United States)

    Strugnell, Jan M.; Pedro, Joel B.; Wilson, Nerida G.

    2018-01-01

    Sea levels at the end of this century are projected to be 0.26-0.98 m higher than today. The upper end of this range, and even higher estimates, cannot be ruled out because of major uncertainties in the dynamic response of polar ice sheets to a warming climate. Here, we propose an ecological genetics approach that can provide insight into the past stability and configuration of the West Antarctic Ice Sheet (WAIS). We propose independent testing of the hypothesis that a trans-Antarctic seaway occurred at the last interglacial. Examination of the genomic signatures of bottom-dwelling marine species using the latest methods can provide an independent window into the integrity of the WAIS more than 100,000 years ago. Periods of connectivity facilitated by trans-Antarctic seaways could be revealed by dating coalescent events recorded in DNA. These methods allow alternative scenarios to be tested against a fit to genomic data. Ideal candidate taxa for this work would need to possess a circumpolar distribution, a benthic habitat, and some level of genetic structure indicated by phylogeographical investigation. The purpose of this perspective piece is to set out an ecological genetics method to help resolve when the West Antarctic Ice Shelf last collapsed.

  12. Genetic Resources in the “Calabaza Pipiana” Squash (Cucurbita argyrosperma) in Mexico: Genetic Diversity, Genetic Differentiation and Distribution Models

    Science.gov (United States)

    Sánchez-de la Vega, Guillermo; Castellanos-Morales, Gabriela; Gámez, Niza; Hernández-Rosales, Helena S.; Vázquez-Lobo, Alejandra; Aguirre-Planter, Erika; Jaramillo-Correa, Juan P.; Montes-Hernández, Salvador; Lira-Saade, Rafael; Eguiarte, Luis E.

    2018-01-01

    Analyses of genetic variation allow understanding the origin, diversification and genetic resources of cultivated plants. Domesticated taxa and their wild relatives are ideal systems for studying genetic processes of plant domestication and their joint is important to evaluate the distribution of their genetic resources. Such is the case of the domesticated subspecies C. argyrosperma ssp. argyrosperma, known in Mexico as calabaza pipiana, and its wild relative C. argyrosperma ssp. sororia. The main aim of this study was to use molecular data (microsatellites) to assess the levels of genetic variation and genetic differentiation within and among populations of domesticated argyrosperma across its distribution in Mexico in comparison to its wild relative, sororia, and to identify environmental suitability in previously proposed centers of domestication. We analyzed nine unlinked nuclear microsatellite loci to assess levels of diversity and distribution of genetic variation within and among populations in 440 individuals from 19 populations of cultivated landraces of argyrosperma and from six wild populations of sororia, in order to conduct a first systematic analysis of their genetic resources. We also used species distribution models (SDMs) for sororia to identify changes in this wild subspecies’ distribution from the Holocene (∼6,000 years ago) to the present, and to assess the presence of suitable environmental conditions in previously proposed domestication sites. Genetic variation was similar among subspecies (HE = 0.428 in sororia, and HE = 0.410 in argyrosperma). Nine argyrosperma populations showed significant levels of inbreeding. Both subspecies are well differentiated, and genetic differentiation (FST) among populations within each subspecies ranged from 0.152 to 0.652. Within argyrosperma we found three genetic groups (Northern Mexico, Yucatan Peninsula, including Michoacan and Veracruz, and Pacific coast plus Durango). We detected low levels of gene

  13. Genetic Resources in the “Calabaza Pipiana” Squash (Cucurbita argyrosperma in Mexico: Genetic Diversity, Genetic Differentiation and Distribution Models

    Directory of Open Access Journals (Sweden)

    Guillermo Sánchez-de la Vega

    2018-03-01

    Full Text Available Analyses of genetic variation allow understanding the origin, diversification and genetic resources of cultivated plants. Domesticated taxa and their wild relatives are ideal systems for studying genetic processes of plant domestication and their joint is important to evaluate the distribution of their genetic resources. Such is the case of the domesticated subspecies C. argyrosperma ssp. argyrosperma, known in Mexico as calabaza pipiana, and its wild relative C. argyrosperma ssp. sororia. The main aim of this study was to use molecular data (microsatellites to assess the levels of genetic variation and genetic differentiation within and among populations of domesticated argyrosperma across its distribution in Mexico in comparison to its wild relative, sororia, and to identify environmental suitability in previously proposed centers of domestication. We analyzed nine unlinked nuclear microsatellite loci to assess levels of diversity and distribution of genetic variation within and among populations in 440 individuals from 19 populations of cultivated landraces of argyrosperma and from six wild populations of sororia, in order to conduct a first systematic analysis of their genetic resources. We also used species distribution models (SDMs for sororia to identify changes in this wild subspecies’ distribution from the Holocene (∼6,000 years ago to the present, and to assess the presence of suitable environmental conditions in previously proposed domestication sites. Genetic variation was similar among subspecies (HE = 0.428 in sororia, and HE = 0.410 in argyrosperma. Nine argyrosperma populations showed significant levels of inbreeding. Both subspecies are well differentiated, and genetic differentiation (FST among populations within each subspecies ranged from 0.152 to 0.652. Within argyrosperma we found three genetic groups (Northern Mexico, Yucatan Peninsula, including Michoacan and Veracruz, and Pacific coast plus Durango. We detected low

  14. Genetic Romanticism

    DEFF Research Database (Denmark)

    Tupasela, Aaro

    2016-01-01

    inheritance as a way to unify populations within politically and geographically bounded areas. Thus, new genetics have contributed to the development of genetic romanticisms, whereby populations (human, plant, and animal) can be delineated and mobilized through scientific and medical practices to represent...

  15. Preliminary evidence for genetic overlap between body mass index and striatal reward response.

    Science.gov (United States)

    Lancaster, T M; Ihssen, I; Brindley, L M; Linden, D E

    2018-01-10

    The reward-processing network is implicated in the aetiology of obesity. Several lines of evidence suggest obesity-linked genetic risk loci (such as DRD2 and FTO) may influence individual variation in body mass index (BMI) through neuropsychological processes reflected in alterations in activation of the striatum during reward processing. However, no study has tested the broader hypotheses that (a) the relationship between BMI and reward-related brain activation (measured through the blood oxygenation-dependent (BOLD) signal) may be observed in a large population study and (b) the overall genetic architecture of these phenotypes overlap, an assumption critical for the progression of imaging genetic studies in obesity research. Using data from the Human Connectome Project (N = 1055 healthy, young individuals: average BMI = 26.4), we first establish a phenotypic relationship between BMI and ventral striatal (VS) BOLD during the processing of rewarding (monetary) stimuli (β = 0.44, P = 0.013), accounting for potential confounds. BMI and VS BOLD were both significantly influenced by additive genetic factors (H2r = 0.57; 0.12, respectively). Further decomposition of this variance suggested that the relationship was driven by shared genetic (ρ g  = 0.47, P = 0.011), but not environmental (ρ E  = -0.07, P = 0.29) factors. To validate the assumption of genetic pleiotropy between BMI and VS BOLD, we further show that polygenic risk for higher BMI is also associated with increased VS BOLD response to appetitive stimuli (calorically high food images), in an independent sample (N = 81; P FWE-ROI  < 0.005). Together, these observations suggest that the genetic factors link risk to obesity to alterations within key nodes of the brain's reward circuity. These observations provide a basis for future work exploring the mechanistic role of genetic loci that confer risk for obesity using the imaging genetics approach.

  16. Common Genetic Risk for Melanoma Encourages Preventive Behavior Change

    Directory of Open Access Journals (Sweden)

    Lori Diseati

    2015-02-01

    Full Text Available There is currently great interest in using genetic risk estimates for common disease in personalized healthcare. Here we assess melanoma risk-related preventive behavioral change in the context of the Coriell Personalized Medicine Collaborative (CPMC. As part of on-going reporting activities within the project, participants received a personalized risk assessment including information related to their own self-reported family history of melanoma and a genetic risk variant showing a moderate effect size (1.7, 3.0 respectively for heterozygous and homozygous individuals. Participants who opted to view their report were sent an optional outcome survey assessing risk perception and behavioral change in the months that followed. Participants that report family history risk, genetic risk, or both risk factors for melanoma were significantly more likely to increase skin cancer preventive behaviors when compared to participants with neither risk factor (ORs = 2.04, 2.79, 4.06 and p-values = 0.02, 2.86 × 10−5, 4.67 × 10−5, respectively, and we found the relationship between risk information and behavior to be partially mediated by anxiety. Genomic risk assessments appear to encourage positive behavioral change in a manner that is complementary to family history risk information and therefore may represent a useful addition to standard of care for melanoma prevention.

  17. The pioneering use of ISSR (Inter Simple Sequence Repeat in Neotropical anurans: preliminary assessment of genetic diversity in populations of Physalaemus cuvieri (Amphibia, Leiuperidae

    Directory of Open Access Journals (Sweden)

    Rafaela M Moresco

    2013-01-01

    Full Text Available The greatest diversity of anurans in the world is in Brazil and one of the major challenges is to reconcile the accelerated economic development with strategies that aim to maintain this diversity in forest fragments, often representing ESUs of some biomes. This study aimed to obtain data that will support conservation projects through the pioneering use of ISSR analysis in Neotropical anurans, estimating the intra- and interpopulation genetic diversity of four populations of P. cuvieri (Paraná and São Paulo regions. Of the 65 loci scored 58 were polymorphic, with 0.797 intrapopulation variation and 0.203 interpopulation variation. The index of interpopulation genetic differentiation (Fst proved to be high among the population of Marmeleiro-PR and the three populations of SP (Fst > 0.288; genetic dissimilarity was related to the geographical distance. The ISSR proved to be efficient and useful molecular markers in comparison with other markers most widely used for preliminary diagnosis of genetic diversity in populations of amphibians, and could be applied as a tool for future conservation projects, since they could identify potential ESUs and influence decisions on the preservation of fragments.

  18. Genetic analysis of the ADGF multigene family by homologous recombination and gene conversion in Drosophila

    Czech Academy of Sciences Publication Activity Database

    Doležal, Tomáš; Gaži, Michal; Žurovec, Michal; Bryant, P. J.

    2003-01-01

    Roč. 165, - (2003), s. 653-666 ISSN 0016-6731 R&D Projects: GA AV ČR IAA5007107; GA ČR GA204/01/1022; GA MŠk ME 549 Institutional research plan: CEZ:AV0Z5007907 Keywords : Growth-factor-melanogaster-adenosine Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 4.276, year: 2003

  19. Genetic analysis of the ADGF multigene family by homologous recombination and gene conversion in Drosophila

    Czech Academy of Sciences Publication Activity Database

    Doležal, Tomáš; Gaži, Michal; Žurovec, Michal; Bryant, P. J.

    2003-01-01

    Roč. 165, - (2003), s. 653-666 ISSN 0016-6731 R&D Projects: GA AV ČR IAA5007107; GA ČR GA204/01/1022; GA MŠk ME 549 Institutional research plan: CEZ:AV0Z5007907 Keywords : Growth-factor- melanogaster -adenosine Subject RIV: EB - Genetics ; Molecular Biology Impact factor: 4.276, year: 2003

  20. Possible people, complaints, and the distinction between genetic planning and genetic engineering.

    Science.gov (United States)

    Delaney, James J

    2011-07-01

    Advances in the understanding of genetics have led to the belief that it may become possible to use genetic engineering to manipulate the DNA of humans at the embryonic stage to produce certain desirable traits. Although this currently cannot be done on a large scale, many people nevertheless object in principle to such practices. Most often, they argue that genetic enhancements would harm the children who were engineered, cause societal harms, or that the risks of perfecting the procedures are too high to proceed. However, many of these same people do not have serious objections to what is called 'genetic planning' procedures (such as the selection of sperm donors with desirable traits) that essentially have the same ends. The author calls the view that genetic engineering enhancements are impermissible while genetic planning enhancements are permissible the 'popular view', and argues that the typical reasons people give for the popular view fail to distinguish the two practices. This paper provides a principle that can salvage the popular view, which stresses that offspring from genetic engineering practices have grounds for complaint because they are identical to the pre-enhanced embryo, whereas offspring who are the result of genetic planning have no such grounds.