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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.
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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.
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Meetings and Workshops
- 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.
- Second Multi-IC Symposium on the Application of Genomic Technologies to Population-Based Studies: Facilitating Collaboration in Genome-Wide Association Studies
An NIH-wide symposium held May 22-23, 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-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
- Genomic Applications in Practice and Prevention (GAPP): Translation Programs in Education, Surveillance, and Policy
This funding opportunity announcement (FOA) will award grants from approximately $150,000 to $300,000. This FOA is intended to help move evidence-based human genomic tests and other genomic interventions into health practice, in order to maximize health benefits and minimize harm to individuals and populations.
Letter of Intent: May 7, 2008; Final Application:
June 6, 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
- Expired Grant Application Solicitations
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Population Genomics Staff
Mia Diggs
Program Assistant
E-mail: diggsm@mail.nih.gov
Emily Harris, Ph.D., M.P.H.
Epidemiologist
E-mail: harrisel@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: May 9, 2008
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