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- Developmental Genotype-Tissue Expression (dGTEx)1
- Ethical, Legal and Social Implications (ELSI) Research Program2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Clinical Genome (ClinGen) Resource1
- Polygenic RIsk MEthods in Diverse populations (PRIMED) Consortium1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium2
News Release
NHGRI has selected Charles Venditti, M.D., Ph.D., as chief of its Metabolic Medicine Branch within the Institute’s Intramural Research Program. In this role, he will provide leadership and guidance on research into genetic diseases that disrupt metabolism.
… on the development of new therapies for patients with genetic disorders. … The National Human Genome Research … he will provide leadership and guidance on research into genetic diseases that disrupt metabolism. “Dr. Venditti has … to patients. The Metabolic Medicine Branch focuses on genetic conditions that affect the body’s metabolism. These …
News Release
Artificial intelligence tools help scientists decode genomic disorders and communicate genomic risks
NHGRI researchers are increasingly using artificial intelligence tools to answer compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how genomic information influences decision-making.
… sophisticated technologies to diagnose, monitor and treat genetic conditions. Artificial intelligence tools , which … , find disease-causing genomic variants and identify genetic disorders by examining people’s faces . Researchers … compelling questions in genomics, such as predicting rare genetic disorders and their severity, and to understand how …
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.
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.
… sickle cell disease, which takes advantage of the latest genetic discoveries and technological advances to move the most promising genetic-based curative therapies safely into clinical trials. … in treatment for sickle cell disease, the first human genetic disease that was understood at the protein and DNA …
Profile
After major advances in hematology, David Bodine retires with an eye towards mentorship and a garden
David Bodine, founder of the Hematopoiesis Section and chief of the Genetics and Molecular Biology Branch, advanced the fields of gene therapy and hematology in his 38 years at the NIH. Now, he plans to continue his contributions to science as an emeritus and through training the next generation of scientists.
… career, Dr. Bodine’s accomplishments have furthered the genetic understanding of blood disorders and opened avenues … produce enough red blood cells. Each new piece of the genetic puzzle helps diagnose more patients with this …
News Release
NHGRI has selected Charles Rotimi, Ph.D., as the next scientific director. In this role, he will lead the institute’s Intramural Research Program, which conducts basic and clinical research to enable a greater understanding of human disease and to develop better methods to detect, prevent and treat genetic disorders.
… Sarah A. Bates, M.S. … Genetic epidemiologist and genomics researcher to lead … and to develop better methods to detect, prevent and treat genetic disorders. NHGRI is part of the National Institutes of Health. Dr. Rotimi is a leading genetic epidemiologist and genomics researcher with expertise …
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.
… Section, Dr. Hanchard will lead efforts to use genomic and genetic tools to understand complex pediatric diseases and …
News Release
NHGRI has awarded the American Society of Human Genetics (ASHG) a five-year, $7.1 million contract to support a new Genomics and Public Service Fellowship Program, which will provide early-stage professionals with experience in a range of genomics careers.
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
… ​ … Undiagnosed Diseases Program, rare diseases, genetic disorder … UDN expands the footprint of the network …
News Release
NHGRI researchers will present four platform talks and 55 posters to highlight the institute's diverse portfolio at the 65th annual meeting of ASHG.
… , and then moderate the presidential symposium titled, Genetic Epidemiology at Scale: High Throughput Genomics … Session B 124. Khadijah Abdallah: New tool for measuring genetic variation knowledge among health professionals. … analysis with replication data. (Statistical Genetics and Genetic Epidemiology) 1425W. Emily Holzinger: A variable …