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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
Staff
Dr. Daniel Shriner is a researcher in NHGRI's Center for Research on Genomics and Global Health.
… the population genetics of human immunodeficiency virus type 1, focusing on recombination and metapopulation … for detecting positive natural selection. Genet. Res. 81(2): 115–121. Nickle, D. C., Shriner , D ., Mittler, J. E., … with obesity in West Africans and African-Americans. Diabetes 59(6):1549–1554. PMCID: PMC2874717. Kang, S. J., …
News Release
A 2018 workshop led by Alaska Native people provides a path towards collaborative, community-driven genomics research.
… higher rates of cardiovascular disease, diabetes, cancer and infectious diseases . Many in the …
News Release
Researchers have discovered that FGF21 is elevated in mice with liver disease that mimics the same condition in patients with methylmalonic acidemia.
… common disorders such as fatty liver disease, obesity and diabetes by uncovering similarities in how MMA and these …
News Release
A the largest genomics study of clear cell endometrial cancer (CCEC) tumors has identified mutations in the TAF1 gene.
… dying from it every year. Fortunately, the most common type of endometrial cancer, endometrioid endometrial cancer, … cancer. Women with clear cell endometrial cancer, a rare type of endometrial cancer, generally have poorer clinical …
News Release
Most pregnant women want recommendations from their doctors when deciding which information to receive from prenatal whole genome sequencing.
… available but has been demonstrated in a lab. As this type of test becomes clinically available in the next few … should be aware that not all women want the same type or amount of information." In a 2016 survey of American …
Staff
Dr. Galarreta is a board-certified pediatrician and biochemical geneticist in NHGRI's Metabolic Medicine Branch.
… with VACTERL association and the effect of maternal diabetes . Am J Med Genet A . 2023. Epub 2023/08/31. doi: …
News Release
A new study by scientists at NHGRI, suggests that iPSCs do not develop more mutations than cells that are duplicated by subcloning.
News Release
The Physician-Scientist Development Program helps physicians develop research programs dedicated to the disorders they specialize in.
… McGuire treated a child suffering from glutaric aciduria type I - at the time, and still to date, a rare genetic … applications, such as finding a cure for glutaric aciduria type I. "The patients I'm seeing in the clinic are teetering … a cluster of genetic diseases (including glutaric aciduria type I) known as "inborn errors of metabolism" (IEM). …
Staff
Dr. Charles Venditti is a chief and senior investigator of NHGRI's Metabolic Medicine Branch.
… B12 deficiency, stroke syndromes, pancreatic dysfunction, diabetes, chronic kidney disease, osteoporosis, obesity and … discover and characterize novel patient phenotypes. Figure 2: Growth and phenotypic correction after AAV8-mMut gene … Combined methylmalonic acidemia and homocystinuria, cblC type I Clinical presentations, diagnosis and management. J …
News Release
NIH researchers have developed a breath test that measures how well patients with methylmalonic acidemia (MMA) respond to receiving liver or combined liver and kidney transplantation.
… team, with collaborators from the National Institute of Diabetes and Digestive and Kidney Diseases and the National …