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- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Genomic Innovator Awards2
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)3
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
- Developmental Genotype-Tissue Expression (dGTEx)1
- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program7
- Genomics-Enabled Learning Health Systems (gLHS)1
History of Genomics Program
In a two-part conversation, NHGRI's current and former scientific directors reflect on the 30-year anniversary of the Intramural Research Program.
… At the National Human Genome Research Institute (NHGRI), the scientific director leads the institute’s robust Intramural Research Program (IRP). Over its 30-year existence, the IRP has had … Directors … Related Content … A conversation with the 4 NHGRI Scientific Directors … In a two-part conversation, …
Clinical Research
The Undiagnosed Diseases Program provide answers to patients with mysterious conditions that have long eluded diagnosis.
… Common Fund initiative that focuses on the most puzzling medical cases referred to the NIH Clinical Center in … organized by the National Human Genome Research Institute (NHGRI), the NIH Office of Rare Diseases Research (ORDR) (now … of cases resolved with a either a clinical, molecular or biochemical diagnosis: a range between 25 and 50 Number of …
Staff
Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research.
… a master's. in microbiology and immunology from New York Medical College, and an M.B.B.Ch. (with honors, and … Mount Sinai Medical Center, he was awarded a fellowship in biochemical genetics from the American College of Medical … M.S., M.B.B.Ch. … Dr. Peter McGuire is an investigator in NHGRI's Center for Precision Health Research. … Peter …
Staff
Julie Sapp is a genetic counselor in the NHGRI in the Genomic Services Research Program (GSRP).
… experience to promote the integration of genomics into medical practice. The diverse clinical research portfolio of … Sc.M., C.G.C. … Julie Sapp is a genetic counselor in the NHGRI in the Genomic Services Research Program (GSRP). … Julie Sapp, Genomic Services Research …
Research Funding
The $1,000 Genome Program was a coordinated effort to support the development of technologies to dramatically reduce the cost of DNA sequencing, a move aimed at broadening the applications of genomic information in medical research and health care.
… In 2004, NHGRI initiated a coordinated effort to support the … research and health care. Some of the successes of this program, which culminated in 2014, are described in Nature : … DNA Sequencing Technologies Fit for Routine Laboratory and Medical Use August 2008 New Grants Bolster Efforts to …
The Genomics Landscape
In the August 2021 issue of The Genomics Landscape, NHGRI Director, Eric Green, M.D., Ph.D., spotlights the NHGRI Extramural Research Program and how it takes a dynamic approach to it's research portfolio to help foster groundbreaking advances in genomics.
… engineering and imaging, and health informatics and medical libraries. All the best, … Pursue advances in … nation’s citizens.” Bettie J. Graham, Ph.D. (Director, NHGRI Division of Extramural Operations) 2020 NHGRI … who receive grant funds. The NHGRI Extramural Research Program (ERP) works to encourage, fund, and manage genomics …
News Release
Cari Young and Julie Nadel join NHGRI as public policy and education fellows.
… "Cari" Young, Sc.M., first developed an interest in genetics in her high school AP biology class. "I was drawn to … will join the National Human Genome Research Institute (NHGRI) as the 14th American Society of Human Genetics … under the direction of Dr. Leslie Biesecker, chief of the Medical Genomics and Metabolic Genetics Branch, where she …
The Genomics Landscape
In the November 2023 edition of The Genomics Landscape, NHGRI Director Eric Green, celebrates the 30th anniversary of the NHGRI Intramural Research Program as well as announces the launch of a new digital history archive.
… (GBC) — a group of research funders that includes NHGRI on behalf of NIH — is working to understand the global … For those attending the annual American Society of Human Genetics (ASHG) annual meeting in Washington DC this week, … and somatic syndrome). In an episode of Symptomatic: A Medical Mystery Podcast, Dr. Kastner detailed how he came to …
Professional Development Programs
Meeting a JHU/NHGRI Genetic Counseling Training Program graduate will help you learn more about the program and may help when deciding whether to apply.
… is offered on the NIH campus in Bethesda, Md., and at the medical and undergraduate campuses of Johns Hopkins … a short lecture I will present to the NIH geneticists, genetics fellows, and my classmates. 1:00 - 3:00 p.m: Cancer … Genomic Medicine, Johns Hopkins University … Meeting a JHU/NHGRI Genetic Counseling Training Program graduate will help …
Educational Resources
Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease.
… DNA for variations, typically performed in the context of medical care, ancestry studies or forensics. In a medical setting, the results of a genetic test can be used to …