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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)2
- Genetic Architecture of Complex Traits1
- Genome Technology Program1
- Impact of Genomic Variation on Function (IGVF) Consortium3
- Molecular Phenotypes of Null Alleles in Cells (MorPhiC)1
- Clinical Genome (ClinGen) Resource1
- Genomic Innovator Awards1
- 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 November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
… PB5035 Rebekah Waikel Generative methods for Pediatric Genetics Education. PB2385 Edmond Wonkam Tingang Genome-Wide … with Gaucher disease PB4630 Oleg Shchelochkov Genomic and Clinical Correlates of Plasma Urate in the “All of Us” … HPS-1 pulmonary fibrosis PB2027 Zo Bly The landscape of clinical sequencing in diverse populations: lessons learned …
News Release
NHGRI researchers have generated the largest catalog of genetic variants associated with physical traits for domesticated dog breeds.
… of dog breeds points toward the major role played by genetics in shaping such variation in dogs. … The Power of … the results, we've learned some of the fascinating genetics behind the variability observed in the world's 450 … in dogs than in humans, and eventually helping with clinical intervention in human patients. Such canine clues …
News Release
NIH-led study finds genetic markers that explain up to 12% of the differences between two people’s blood pressure.
… as adrenergic receptors. The study, published in Nature Genetics , is one of the largest such genomic studies of … which are more likely to be effective.” To understand the genetics of blood pressure, the researchers combined four … shows that these big genome-wide association studies have clinical relevance for finding new drug targets and are …
Profile
Dr. Hanchard talks about his journey into genetics research, his collaborations with international researchers, and the importance of determination in science.
… Dr. Hanchard talks about his journey into genetics research, his collaborations with international … to the United Kingdom, where he had his first foray into genetics research. He dove headfirst into the field and was … to investigate pediatric diseases and make use of my clinical genetics training. So, the genetics of childhood …
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… with sickle cell disease. The study provides estimated clinical risks for people with sickle cell trait, which can inform clinical practice guidelines. Researchers examined the … in people with sickle cell trait,” said Rakhi Naik, M.D., clinical director for the Division of Hematology at Johns …
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.
… Venditti to provide leadership for clinical and laboratory research programs that focus on the … has demonstrated expertise in the basic, translational and clinical aspects of metabolic diseases,” said Charles Rotimi, … 2003, then became a tenure-track investigator in NHGRI’s Genetics and Molecular Biology Branch in 2008. After …
Event
On October 25-29, 2022, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition.
… Hall 3:00 p.m. — 4:45 p.m. Evolutionary and Population Genetics Newfoundland and Labrador: A mosaic founder … South Exhibit Hall 3:00 p.m. — 4:45 p.m. Statistical Genetics and Genetic Epidemiology Local Ancestry at the MHC … South Exhibit Hall 3:00 p.m. — 4:45 p.m. Statistical Genetics and Genetic Epidemiology Developing an African …
Event
A joint NHGRI-NCATS hosted meeting bringing together researchers, clinicians, families and patient advocates from around the world to discuss the natural history, disease pathophysiology, genetics and treatments for rare inborn metabolic errors.
… Session 1 Moderator: Irini Manoli, M.D., Ph.D. Clinical Associate Investigator, NHGRI 10:05 - 10:30 a.m. … M.D., Ph.D. Director of Myelin Disorders Program and Fetal Genetics, Assistant Professor of Pediatrics, CNMC 3:00 - 3:20 … p.m. Enzyme Therapy for Homocystinuria: Research & Pre-clinical Development of PEG-CBS (OT-58, TVT-058) Tomas …
News Release
Dr. Shchelochkov will oversee the research training, fellowship and residency programs at the institute.
… appointed Oleg Shchelochkov, M.D., as the new director of Clinical and Laboratory Residencies and Fellowships. Dr. Shchelochkov, a clinical geneticist and medical biochemical geneticist, takes … many aspects of organic acidemias. After his early genetics training at Baylor College of Medicine, Dr. …
News Release
In an article published in the American Journal of Human Genetics, researchers have found that words scientists use to describe populations have changed from 1949 to 2018.
… NIH, was published today in the American Journal of Human Genetics . For the field of genetics, the question of what makes a population is a … the historical use of these concepts in the context of genetics and genomics research,” said Vence Bonham Jr., J.D., …