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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
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 … GMWG published the following notable accomplishments: 2023 Genomic Medicine Year in Review 2022 Genomic Medicine Year in …
Genomics and Medicine
A list of interesting advances and helpful educational resources in genomic medicine compiled by the NHGRI Genomic Medicine Working Group (GMWG).
… and their definitions . … Related Resources … 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 … GMWG, please email: GMWG@nih.gov . … Accomplishments in Genomic Medicine … Accomplishments in Genomic Medicine … A …
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.
… GA, Ramos EM, Roden DM, Rowley R, Taylor CO, Williams MS. Genomic medicine year in review: 2024 . Am J Hum Genet . 2024 … 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, …
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.
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.
… disease gene therapy education project Talking Glossary of Genomic and Genetic Terms: Sickle Cell Disease Sickle Cell …
Genetic Disorders
Cystic fibrosis is a genetic disease that causes the body to produce thick, sticky mucus that clogs the lungs, leads to infection, and blocks the pancreas.
… for treating infections caused by P. aeruginosa. Gene Database Speeds Research As the amount of information about …
Event
NHGRI, NICHD, NIMH, and ORIP program staff held a pre-application webinar with an interactive Q&A session for the Non-Human Primate Developmental Genotype-Tissue Expression (NHP dGTEx) Project.
Genetic Disorders
Gaucher disease is an autosomal recessive inherited disorder of metabolism where a type of fat (lipid) called glucocerebroside cannot be adequately degraded.
Genetic Disorders
Parkinson's disease is a neurological condition that typically causes tremor and/or stiffness in movement
Genetic Disorders
Charcot-Marie-Tooth disease is an inherited neurological disease characterized by a slowly progressive degeneration of the muscles and loss of sensation.