Search Results
Facet (Page)
Refine Your Search
Audiences
Content Formats
Events
Sections
Video
Divisions
Programs
- 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)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program5
- Enhancing Opportunities in Computational Genomics and Data Science1
- Human Genome Reference Program (HGRP)2
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Advancing Genomic Medicine Research (AGMR)1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards2
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- NHGRI Genomic Data Science Analysis, Visualization and Informatics Lab-space (AnVIL)2
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… The NHGRI Genomic Medicine Working Group (GMWG) compiles a list of interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for consideration to the GMWG, please email: GMWG@nih.gov . …
Genomics and Medicine
A list of interesting advances and helpful educational resources in genomic medicine compiled by the NHGRI Genomic Medicine Working Group (GMWG).
… Search for specific publications by title, author, category and/or … The NHGRI Genomic Medicine Working Group (GMWG) compiles a list of interesting advances and helpful educational resources in genomic medicine. To submit notable accomplishments for …
Genomics and Medicine
Starting in 2019, the American Journal of Human Genetics has published an annual feature identifying ten key advances in applying genomic information to clinical care that were reported in the previous 12 months of published literature. The Genomic Medicine Working Group has authored these reviews, based on its broader effort to identify notable accomplishments in genomic medicine on a monthly basis. From this larger set of published accomplishments, the working group has continued to select ten papers annually to be highlighted as the most significant.
… in diverse families Chronic disease polygenic risk scores for clinical implementation in diverse US populations … inherited retinal disease with gene editing Validation of a clinical breast cancer risk assessment tool for all … … Genome sequencing may be the method of choice for detecting repeat expansion disorders …
News Release
The U.S. National Institutes of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational medicine and social science studies, to advance our understanding of this widespread illness to help develop effective therapies.
… and Drug Administration (FDA) approved two gene therapies for the treatment of sickle cell disease in patients 12 years … of people around the world have sickle cell disease , a hereditary disease common among those whose ancestors come … directly from people with sickle-cell disease. One of the new sickle cell treatments uses the CRISPR gene-editing …
Event
The 2019 NHGRI Symposium provides an exciting forum for the exchange of scientific and research ideas, forging of new collaborations, and networking across the Institute.
… The 2019 NHGRI Symposium provides an exciting forum for the exchange of scientific and research ideas, forging of new collaborations, and networking across the Institute. This … … The 2019 NHGRI Symposium provides an exciting forum for the exchange of scientific and research ideas, forging of …
Media Advisory
NHGRI will host a two-day symposium addressing historical and present-day constructions of disability and ableism, with a focus on the history and lived experiences of people with disabilities in the context of genomics and genetics.
… For Immediate Release … The National Human Genome Research … of the National Institutes of Health (NIH) will host a two-day symposium addressing historical and present-day … in the Department of History at The State University of New York at Buffalo … Thursday, Oct. 6, 2022, 10 a.m. and …
Media Advisory
On April 25, 2023, NHGRI will host a symposium to commemorate two special milestones: the 20th anniversary of the Human Genome Project’s completion and the 70th anniversary of the discovery of the DNA double helix.
… For Immediate Release … On National DNA Day, the National … part of the National Institutes of Health, will host a symposium to commemorate two special milestones: the 20th … April 25, 2023, 10 a.m. EDT … Event may be attended in-person or virtually. Visit genome.gov/DNA-Day-2023 for …
Event
NHGRI and the University at Buffalo Center for Disability Studies will hold a two-day symposium on October 6-7, 2022 to address historical constructions of disability and ableism, with a focus on the “irreducibility” of individuals with disability and the history of disability.
… are EDT. Day One: Thursday, October 6, 2022 10:00 a.m. to 10:20 a.m. — Welcome and Introduction Eric Green, … Donohue, NHGRI Michael Rembis, The State University of New York at Buffalo Transcripts of Opening Remarks Session One: Key Concepts for Research and Bioethics Moderator: Christopher Donohue, …
For Patients and Families
A list of genetic, orphan and rare diseases under investigation by researchers at or associated with the National Human Genome Research Institute.
… Many human diseases have a genetic component. Some of these conditions are under … This list of genetic, orphan and rare diseases is provided for informational purposes only and is by no means … comprehensive. … A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from …
Event
This symposium highlights other collaborative efforts between NIH and Children's National, and address genomics and care of children with immunologic diseases.
… This collaboration is framed and supported through a supplemental award to the Clinical and Translational … National (CTSI-CN), which is funded by the National Center for Advancing Translational Sciences (NCATS). As partners, … efforts between NIH and Children's National, and address genomics and care of children with immunologic diseases. … …