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- Multi-Omics for Health and Disease (Multi-Omics)1
- Ethical, Legal and Social Implications (ELSI) Research Program4
- Genomics-Enabled Learning Health Systems (gLHS)1
- Impact of Genomic Variation on Function (IGVF) Consortium1
- Encyclopedia of DNA Elements (ENCODE) Project1
- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
Profile
NHGRI science writer Prabarna Ganguly spoke with Segre about her research career, what makes microbes so complex and her roles in science policy and anti-harassment campaigns.
News Release
NIH researchers compared a new genetic animal model of Down syndrome to the standard model and found the updated version to be enhanced.
News Release
NHGRI researchers, collaborators at the University of California (UC) San Diego, UC Davis and the University of Pittsburgh School of Medicine lay out a new framework for comparing dog-to-human aging, one that uses epigenetics as a biological marker to better understand the aging process.
… these are shared among species. Researchers focused on one type of epigenetic change called methylation, a process in …
News Release
UDN expands the footprint of the network with a new metabolomics core and increased model organism capabilities.
News Release
NIH researchers and collaborators have found that that sickle cell trait is prevalent among diverse human populations.
… that people with sickle cell trait have a higher risk of a type of blood clot called pulmonary embolism than those … add to the risk of developing serious blood clots.” Over 2 million people in the United States have sickle cell trait. …
News Release
NHGRI researchers have discovered a new inflammatory disorder called vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome (VEXAS), which is caused by mutations in the UBA1 gene.
… They studied the genome sequences from more than 2,500 individuals with undiagnosed inflammatory diseases, … and see where it takes us. Out of the genome sequences of 2,560 patients with undiagnosed inflammatory conditions, over … disorders. “Our objective was to see if any of the 2,560 patients shared variations in the same gene,” said …
Profile
Dr. Hanchard talks about his journey into genetics research, his collaborations with international researchers, and the importance of determination in science.
… pediatrics piqued his interest. Never having conducted any type of research before — let alone genetics research — he … and diet changes,” says Dr. Hanchard. “With more than 2,000 ethno-linguistic groups and 54 different countries in …
News Release
Doctors and researchers reunite with patient who received gene therapy for GM1 gangliosidosis.
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.
… this, they performed genetic analysis on a large cohort of 2,313 Turkish individuals. They also examined genomes from … that both FMF-causing genomic variants arose more than 2,000 years ago, before the Justinian Plague and the Black …
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.
… Poster Presentations Presenter Title Board # November 2, 2023, 3:00 - 5:00 p.m. Nicholas Singh-Miller Building a … peripheral sensation and vision. PB4942 November 4, 2023, 2:15 - 4:15 p.m. Faith Pangilinan Performance of a … US Populations PB4093 Maha Zaki Pontocerebellar hypoplasia type 9: A report of 17 new patients PB4874 Daniel Shriner The …