Search Results
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
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… scientists and health professionals. In a process called "peer-review," other professionals review these articles before they are published. Several … to your questions. For example, using the limits of only review articles (on the pull-down menu under "Publication …
News Release
An expert panel from the Clinical Genome Resource (ClinGen) has critically reevaluated the scientific evidence for all 17 reported genes, disputing nine of the genes and revealing only three of the genes to be definitively associated with the most common form of the disease.
… Their results were published in Circulation , the peer-reviewed journal of The American Heart Association. …
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.
… on work. While I eat a sandwich from the NIH cafeteria, I review cases for Supervision at my NIH cubicle by listening … or researcher in a specific field. Today's class is a review of neurogenetics, given by the division chief of … I talk about what made me want to present this paper, then review the population, the methodology, the results, and the …
Fact Sheets
Genome-wide association studies involve scanning markers across the genomes of many people to find genetic variations associated with a particular disease​.
… (GAIN), to fund genome-wide association studies. After peer-review of applications, GAIN announced its first round of …
Research Funding
The Grants Administrations Branch is responsible for all business management aspects of NHGRI's grant and cooperative agreement programs.
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… responsibilities include: pre-application, initial review, National Advisory Council for Human Genome Research review, award, post-award, close-out and final audit phases. …
The Genomics Landscape
In the March 2019 edition of The Genomics Landscape, NHGRI Director Eric Green details ClinGen, the first FDA-recognized Public Human Genetic Variant Database.
… appointed the new Director of NIH's Center for Scientific Review (CSR), where she has served as Acting Director since … 2018. Dr. Byrnes started at CSR in 2000 as a Scientific Review Officer. Soon thereafter, she also assumed the role of … and contract personnel. In addition to overseeing the peer review of ~75% of grant applications received by NIH, …
News Release
Researchers recommend genomic approaches to discovering inherited variants in one or a handful of genes that affect an individual's rare disease risk.
… Medical Genomics and Metabolic Genetics Branch. "The peer review community can use these guidelines to set benchmarks …
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.
… processes for submitting grant applications and for the peer review of those applications, but they may be less aware of … start writing their applications as well as after the peer-review process takes place. Extramural staff members of …
News Release
Dr. Andy Baxevanis has been named a Fellow of the American Association for the Advancement of Science.
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… notable accomplishments: 2023 Genomic Medicine Year in Review 2022 Genomic Medicine Year in Review 2021 Genomic Medicine Year in Review 2020 Genomic Medicine Year in Review 2019 Genomic …