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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 Program6
- 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
A list of interesting advances and helpful educational resources in genomic medicine compiled by the NHGRI Genomic Medicine Working Group (GMWG).
… by the NHGRI Genomic Medicine Working Group (GMWG). … Genomics and Medicine …
Genomics and Medicine
The NHGRI Genomic Medicine Working Group has compiled a list of interesting advances.
… Milestones In Medicine, Clinical Implementation Of Genomics, Pharmacogenomics, Oncology Sequencing, … Group has compiled a list of interesting advances. … Genomics and Medicine …
Fact Sheet
Understanding gene therapy for sickle cell disease
… worked together to develop content for the Democratizing Education for Sickle Cell Disease Gene Therapy Project, which … met over the course of four workshops. … The Democratizing Education Project welcomes your feedback about the sickle … your healthcare provider or a clinical trial team. … These education materials are the outcome of the conversations from …
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.
… diagnostic genetic test Broad clinical deployment of rapid genomics-based precision care in infants is eminently … annually to be highlighted as the most significant. … Genomics and Medicine …
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. 
… 2023 report, Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field , … 2023 report, Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field, … 2023 report, Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field, …
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.
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.
… and address the ethical, legal, and social implications of genomics. ELSI research addresses the new and sometimes unexpected ways that genomics interacts with many aspects of daily life, from how …
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.
… of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational … therapies once available.  NIH leads The Democratizing Education for Sickle Cell Disease Gene Therapy Project , a … of Health (NIH) has long invested in basic genetics and genomics research, clinical trials, as well as translational …
Event
On December 11, 2023, NHGRI, in collaboration with several other NIH Institutes and Offices, recently renewed the three Notices of Funding Opportunity (NOFOs) used to support investigator-initiated research on the ethical, legal and social implications (ELSI) of human genome research.
Health FAQ
Discuss these questions with your doctor or health care provider.
… your doctor or clinical trial team. … The Democratizing Education Project welcomes your feedback about the sickle … help their quality of life. Visit our gene therapy education page to stay updated on the newest therapies. … It …