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Office of Population Genomics
Overview
The National Human Genome Research Institute's Office of Population Genomics was established to facilitate the application of genomic knowledge to health. The office will promote multi-disciplinary research in epidemiology and genomics, by applying genomic technologies to existing population and clinical studies, and developing new population resources for investigation of genetic and environmental contributions to complex diseases.
The goals of the office include:
- Establish research resources to identify genes related to complex diseases and their environmental modifiers. Examples of research resources include standardized genetic, environmental, and phenotypic data on meticulously characterized and consented individuals.
- Improve analysis strategies for relating genotypic to phenotypic data.
- Build successful NIH-wide collaborations in population-based genomic research.
- Develop novel population research approaches.
- Support cross-disciplinary training for geneticists, epidemiologists, clinical researchers, and clinicians.
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Research Programs
- The Genes, Environment and Health Initiative (GEI)
Supports research that will lead to the understanding of genetic contributions and gene-environment interactions in common disease.
- GENEVA [genevastudy.org] - Part of the Genetics Program of GEI, GENEVA (Gene Environment Association Studies) is using rapidly evolving technologies in Genome-Wide Association Studies (GWAS) to find genetic risk factors in common conditions, such as tooth decay, heart disease, cancer and diabetes, and assess their interplay with non-genetic risk factors.
- The Genetic Association Information Network (GAIN)
Supports a series of Genome-Wide Association Studies (GWAS) designed to identify specific points of DNA variation associated with the occurrence of a particular common disease.
- eMERGE [gwas.net]
The eMERGE (Electronic Medical Records and Genomics) Network is a five-member consortium formed to develop, disseminate, and apply approaches to research that combine DNA biorepositories with electronic medical record (EMR) systems for large-scale, high-throughput genetic research.
- PhenX [phenx.org]
The goal of PhenX is to develop consensus measures for phenotypes and exposures for use in genome-wide association studies (GWAS). PhenX will to identify up to 20 domains of high research and public health significance and then develop and disseminate 15 standard measures for each domain. The toolkit of phenotype and exposure measures produced by PhenX will facilitate integrated design and analysis of GWA studies as well as other genomics and epidemiology based studies.
- Epidemiologic Architecture Program Press Release
Announcement of funding for the Epidemiologic Architecture RFAs (RFA-HG-07-014 and RFA-HG-07-015). The goal of this program is to provide support for the investigation, in well-characterized population studies, of genetic variants identified as potentially causally associated with complex diseases in genome-wide association (GWA) and other genetic studies, with the aim of widespread sharing of the resulting population-based descriptive and association data to accelerate the understanding of genes related to complex diseases.
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A Catalog of Genome-Wide Association Studies
A listing of genome-wide association studies that includes at least 100,000 single nucleotide polymorphisms (SNPs) in the initial stage and are organized from most to least recent date of publication, indexing from online publication if available.
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Recent Articles
- How to Interpret a Genome-wide Association Study [jama.ama-assn.org]
This article describes the design, interpretation, application, and limitations of GWA studies for clinicians and scientists for whom this evolving science may have great relevance.
- HapMap harvest of insights into the genetics of common disease [ncbi.nlm.nih.gov]
This article discusses the benefits and successes of the International HapMap Project.
- Biorepositories at the bleeding edge [ncbi.nlm.nih.gov]
An article on biorepositories, or "biobanks," discussing their benefits and limitations.
- New models of collaboration in genome-wide association studies: the Genetic Association Information Network
A description of the Genetic Association Information Network (GAIN) and its contribution as a new method of research aiming towards rapid advances in the understanding of the genetics of complex diseases.
- Replicating genotype-phenotype associations
The importance of replication, and how to define it.
- Genes, environment, health, and disease: facing up to complexity [ncbi.nlm.nih.gov]
Understanding the complexity of human disease, and how to identify and interpret gene x gene and gene x environment interactions.
- Merging and emerging cohorts: necessary but not sufficient
A commentary on the benefits and pitfalls of extending existing cohorts versus starting new cohorts.
- Taking our obligations to research participants seriously: disclosing individual results of genetic research [ncbi.nlm.nih.gov]
A commentary on disclosure of results to research participants.
- Genes, environment and the value of prospective cohort studies
This article discusses the importance of prospective cohort studies.
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Meetings and Workshops
- Epidemiology for Researchers Performing Genetic/Genomic Studies
Held July 18, 2008 in Bethesda at Natcher Auditorium, NIH campus, this short course is for investigators and trainees doing research in human genetics, particularly studies employing genomic analyses of samples from human populations. It consists of eight lectures and aims at familiarizing researchers studying the human genome with basic principles and potential pitfalls of epidemiology as applied to human genome research.
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Genetics for Epidemiologists: Application of Human Genomics to Population Sciences
Held May 13-14, 2008 at Northwestern University in Chicago,
Genetics for Epidemiologists:
Application of Human Genomics to Population Sciences, is a short course for investigators and trainees in the field of epidemiology and related population-based sciences. The course consists of eight one-hour lectures and focuses on the interface between genetics and epidemiology.
- Frontiers in Population Genomics Research Meeting
Held December 18-19, 2007 in Bethesda, MD, the Frontiers workshop was held to chart future research directions for NHGRI to pursue in population genomics, defined as the application of genomic technologies to population studies, to meet the goals of NHGRI and NIH in improving health and reducing disease.
- Designing Geneticists: Study Design Issues in Population-Based Genetics and Genomics Research
The 2007 American Society of Human Genetics meeting was held in San Diego, October 23-27. Presentation slides regarding study design and minimizing bias in population-based genetic studies are now available for download.
- Genome-Wide Association Studies for the Rest of Us: Adding Genome-Wide Association to Population Studies
The National Institutes of Health co-sponsored a seminar on Genome-Wide Association Studies at the June 22, 2007 meeting of the Society for Epidemiological Research in Boston. Lecture and discussion videos and presentation slides from the seminar are available for download.
- Multi-IC Symposia on the Application of Genomic Technologies to Population-Based Studies: Facilitating Collaboration in Genome-Wide Association Studies
Two NIH-wide symposia held in 2006 and 2007 to increase the level of familiarity and understanding of GWA studies within NIH, and to develop collaborations within or across ICs for carrying out these studies.
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Notices
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NOT-HG-08-013 [grants.nih.gov]: Notice of Publication of FAQs Related to RFA-HG-08-004: Genome-wide Association Studies of Treatment Response in Randomized Clinical Trials - Study Investigators (U01) 
Release Date: September 12, 2008
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NOT-HG-08-012 [grants.nih.gov]: Correction for RFA-HG-08-005: Genome-wide Association Studies of Treatment Response in Randomized Clinical Trials - Coordinating Center (U01)
Release Date: September 12, 2008
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NOT-CA-08-011 [grants.nih.gov]: Administrative Supplements for Gene Identification Efforts: Replication and Fine-Mapping Studies for The Genes, Environment, and Health Initiative (GEI)
Release Date: March 5, 2008
- Policy for Sharing of Data Obtained in NIH Supported or Conducted Genome-Wide Association Studies (GWAS) [grants.nih.gov]
Developed following a public consultation process with interested stakeholders, the GWAS data-sharing policy will facilitate the research community's access to genotype-phenotype datasets from GWAS in a broad array of disease areas. Release Date: August 28, 2007
- GWAS Oversight Structure
A chart of the governance of data-release policy for GWAS
- NOT-OD-08-013: [grants.nih.gov] Implementation Guidance and Instructions for Applicants: Policy for Sharing of Data Obtained in NIH-Supported or Conducted Genome-Wide Association Studies (GWAS) Release Date: November 16, 2007
- Genotype and Phenotype Data Now Available from dbGaP Database; Request Process Involves New Procedures for Principal Investigators and Signing Officials [grants.nih.gov]
The database of Genotype and Phenotype " dbGaP " contains individual-level data for several studies, including those in the Genetic Association Information Network (GAIN). Access is provided at two levels: open and controlled. With authorization, investigators may download de-identified genotype and phenotype data for their research projects. Release Date: May 29, 2007
- NOT-HG-08-001 [grants.nih.gov]: Notice of Publication of FAQs Related to RFA-HG-07-014: Epidemiologic Investigation of Putative Causal Genetic Variants-Study Investigators (U01)
Release Date: October 16, 2007
- NOT-HG-07-026 [grants.nih.gov]: Notice to Allow Resubmissions to RFA-HG-07-012: Genome-wide Association Studies in the Genes, Environment, and Health Initiative - Study Investigators (U01)
Release Date: August 17, 2007
- NOT-OD-07-066 [grants.nih.gov] Notice of Availability of the Data Access Request System for the Genetic Association Information Network (GAIN)
Release date: May 25, 2007
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Funding Opportunities
- RFA-DK-08-003: [grants.nih.gov] Implementation Planning Grants for Educational, Behavioral, or Social Studies for Translation of Genetic Factors in Common Diseases (U34)
Letters of Intent Receipt Date(s): October 24, 2008; Application Receipt Date: November 25, 2008
- RFA-DK-08-004: [grants.nih.gov] Translation of Common Disease Genetics into Clinical Applications (R21)
Letters of Intent Receipt Date(s): October 24, 2008; Application Receipt Date: November 25, 2008
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RFA-HG-08-004: [grants.nih.gov] Genome-wide Association Studies of Treatment Response in Randomized Clinical Trials - Study Investigators (U01)
Letters of Intent Receipt Date(s): October 13, 2008; Application Receipt Date: November 13, 2008
- RFA-HG-08-005: [grants.nih.gov] Genome-wide Association Studies of Treatment Response in Randomized Clinical Trials - Coordinating Center (U01)
Letters of Intent Receipt Date(s): October 13, 2008; Application Receipt Date: November 13, 2008
- RFA-DA-09-003 [grants.nih.gov]: Functional Characterization of Genetic Variants and Interactions: The Genes, Environment and Health Initiative (R21)
Letters of Intent Receipt Date(s): September 17, 2008; Application Due Date(s): October 17, 2008
- RFA-DA-09-004 [grants.nih.gov]:
Functional Characterization of Genetic Variants and Interactions: The Genes, Environment and Health Initiative (R03)
Letters of Intent Receipt Date(s): September 17, 2008;
Application Due Date(s): October 17, 2008
- Office of Population Genomics Expired Grant Application Solicitations
To view the PDFs on this page, you will need Adobe Reader. 
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Population Genomics Staff
Mia Diggs
Program Assistant
E-mail: diggsm@mail.nih.gov
Lucia Hindorff, Ph.D., M.P.H.
Epidemiologist
E-mail: hindorffl@mail.nih.gov
Heather Junkins, M.S.
Scientific Program Analyst
E-mail: junkinsh@mail.nih.gov
Teri Manolio, M.D., Ph.D.
Director, Office of Population Genomics
Senior Advisor to the Director, NHGRI, for Population Genomics
E-mail: manolio@nih.gov
Lisa J. McNeil, B.S.
Scientific Program Analyst
E-mail: mcneilli@mail.nih.gov
Erin Ramos, Ph.D., M.P.H.
Epidemiologist
E-mail: ramoser@mail.nih.gov
Jeff Struewing, M.D., M.S.
Epidemiologist
E-mail: jeff.struewing@nih.gov
Address
Office of Population Genomics
Office of the Director
National Human Genome Research Institute
National Institutes of Health
Building 31, Room 4B09
9000 Rockville Pike, MSC 2154
Bethesda, MD 20892-2154
Phone: (301) 402-0911
Fax: (301) 402-4831
Last Updated: September 15, 2008
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