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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 Program2
- Genomics-Enabled Learning Health Systems (gLHS)1
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- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
Genomic variants that increase risk of kidney disease are found in nearly one-third of West Africans
A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people of West African ancestry.
… … A study from researchers at National Institutes of Health (NIH) and their collaborators revealed a significant genetic risk factor for kidney disease in people from Ghana … National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) and co-author of the study. “Overall, we …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… Jeannine Mjoseth … The National Institutes of Health (NIH) has awarded 16 four-year grants to academic … nationwide to begin the second phase of the Undiagnosed Diseases Network (UDN). The total investment planned for the … ​ … Undiagnosed Diseases Program, rare diseases, genetic disorder … UDN expands the footprint of the network …
News Release
Researchers explored patients', parents' and physicians' perspectives on the use of CRISPR-Cas9 gene-editing to reverse sickle cell disease.
… Jeannine Mjoseth … In the first study of its kind, researchers explored patients', … the success of clinical trials and implementation of new genetic curative therapies, into clinical treatment," said …
News Release
NHGRI researchers have discovered that Mediterranean populations may be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague.
… be more susceptible to an autoinflammatory disease because of evolutionary pressure to survive the bubonic plague. The … by the National Institute of Allergy and Infectious Diseases, the National Institute of Arthritis and … in Mediterranean populations. For this, they performed genetic analysis on a large cohort of 2,313 Turkish …
News Release
NHGRI researchers have released new educational materials to help the sickle cell disease community learn about gene therapies for the disease.
… sickle cell disease. … New educational materials to help the sickle cell disease community learn about gene therapies … the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health. The Democratizing Education for Sickle Cell …
News Release
NIH researchers discover that while artificial intelligence (AI) tools can make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when analyzing summaries written by patients about their own health.
… to evaluate medical questions. … National Institutes of Health (NIH) researchers discover that while artificial … make accurate diagnoses from textbook-like descriptions of genetic diseases, the tools are significantly less accurate when …
News Release
Researchers from NHGRI and the Undiagnosed Diseases Program (UDP) have discovered a new neurological condition characterized by issues with motor coordination and speech.
… a healthy brain. … Researchers at the National Institutes of Health have discovered a new neurological condition … Human Genome Research Institute (NHGRI) and Undiagnosed Diseases Program (UDP) identified three children with the … came from a 2015 study in which researchers identified a genetic neurological disease among Lagotto Romagnolo dogs, an …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… Co-moderator R. Rodney Howell Symposium: Looking Beyond the Lamppost: Genome-first Approaches Using EHR-linked … 14, 2024, 4:15 – 5:45 p.m MTCC-718 Phenome-wide Studies of Hereditary Transthyretin Amyloidosis in the All of Us …  No. Title P006 Evaluation and Application of a Genetic Risk Score for Uric Acid in Trans-Ancestry All of Us …
Profile
Dr. Hanchard talks about his journey into genetics research, his collaborations with international researchers, and the importance of determination in science.
… with international researchers, and the importance of determination in science. … If you ask Neil Hanchard, … to study the genomics and environmental contributors of diseases in African populations. Diversifying genomics … and different forms of malnutrition, teasing apart the genetic contributions of these conditions. He also has …
News Release
NHGRI has appointed Neil Hanchard, M.D., Ph.D., as a clinical investigator within the Medical Genomics and Metabolic Genetics Branch (MGMGB) in the Division of Intramural Research. Dr. Hanchard will head the Childhood Complex Disease Genomics Section within the MGMGB.
… Metabolic Genetics Branch (MGMGB) in the NHGRI Division of Intramural Research. Dr. Hanchard will head the Childhood … Section, Dr. Hanchard will lead efforts to use genomic and genetic tools to understand complex pediatric diseases and traits in diverse populations. His efforts will …