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David B. Beck is an American physician-scientist, clinical geneticist, and researcher who co-discovered VEXAS Syndrome. [1] [2] [3] He holds dual appointments as an assistant professor in the Department of Medicine and the Department of Biochemistry and Molecular Pharmacology, and is a member of the Center for Human Genetics and Genomics and the Division of Rheumatology at New York University ...
The syndrome was identified by a multidisciplinary team of clinicians and scientists led by David B. Beck, Peter Grayson, and Daniel L. Kastner. [ 9 ] [ 10 ] The supplemental section of the journal article of the discovery elucidates that the initial discovery of the mutation was made by Daron Ross in the first 2 patients identified.
Scientists at the National Institutes of Health have discovered a rare and deadly inflammatory disease affecting men called the VEXAS syndrome. The revelation, published Tuesday in the New England ...
An autoinflammatory condition identified in 2020 and named VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is due to mutation in methionine41 in UBA1, the E1 enzyme that initiates ubiquitylation. [20]
Daniel L. Kastner (born 1951) [1] is an American physician and researcher specialising in the genetics of autoinflammatory disorders. He is a Distinguished Investigator at the National Institutes of Health and was the Scientific Director of the National Human Genome Research Institute between 2010 to 2021.
Discovery of genetic causes of cancer and namesake of Lynch syndrome Henry Thompson Lynch (January 4, 1928 – June 2, 2019) was an American physician noted for his discovery of familial susceptibility to certain kinds of cancer and his research into genetic links to cancer .
Neal Stuart Young (born 1947) is an American physician and researcher, chief of the Hematology Branch of the National Institutes of Health (NIH), and Director of the Center for Human Immunology at the NIH in Bethesda, Maryland. [1]
Beck–Fahrner syndrome, also known as BEFAHRS and TET3 deficiency, is a rare genetic disorder caused by mutations of the TET3 gene. The clinical presentation varies among individuals, but typically includes global developmental delay , slow progress in mental and physical activities , autism , decreased muscle tone , epilepsy and dysmorphic ...