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- 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
Event
On May 23, 2023, NHGRI will host a webinar: ELSI Research and the New NIH Data Management and Sharing (DMS) Policy.
… to ELSI Research Data sharing templates and resources Q&A from webinar participants For questions about this informational webinar, please email … hosts an informational webinar, ELSI Research and the New NIH Data Management and Sharing (DMS) Policy , on …
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 …
Event
Several NIH Institutes, Offices and Centers partnered to host a two-day virtual workshop on May 28-29, 2024, to further explore the recommendations from the National Academies of Sciences, Engineering and Medicine (NASEM) 2023 report, Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field, with regards to legacy genomic data. 
… current approaches to the use of population descriptors in/for legacy data;   Define challenges with current approaches … (NIH) Institutes, Offices, and Centers* partnered to host a two-day virtual workshop on May 28-29, 2024, to further … Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field , with regards to legacy …
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
On September 23, 2024, the NHGRI ELSI Program hosted a pre-application webinar to provide an overview of a new Notice of Funding Opportunity (NOFO) for the ELSI Congress to support the organization of the next series of ELSI Congress meetings in 2026, 2028 and 2030.
… and Social Implications (ELSI) Research Program hosted a public pre-application webinar to provide an overview of a new Notice of Funding Opportunity (NOFO) for the Ethical, Legal, and Social Implications (ELSI) …
Event
The NHGRI Ethical, Legal and Social Implications (ELSI) Research Program will host the Pre-Application Webinar for the Building Partnerships and Broadening Perspectives to Advance ELSI Research (BBAER) Program - New Limited Competition for Resource Limited Institutions on August 28, 2024.
… See the Frequently Asked Questions for responses to questions raised during and following the … and Social Implications (ELSI) Research Program hosted a Pre-Application Webinar for the Building Partnerships and … Perspectives to Advance ELSI Research (BBAER) Program - New Limited Competition for Resource Limited Institutions on …
Event
NHGRI currently sponsors a biennial meeting to bring together those with an interest in the ELSI of genomic research, known as the ELSI Congress.
… Since its creation in 1990, NHGRI’s Ethical, Legal and Social Implications (ELSI) Research Program has supported a large body of empirical, analytical and conceptual research … implications of genomics. ELSI research addresses the new and sometimes unexpected ways that genomics interacts …
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 …