Dr. Kastner and his laboratory have made numerous fundamental advances, such as identifying the gene variant that causes in Familial Mediterranean Fever and discovering the genetic basis for a recurrent fever syndrome named TNF receptor-associated periodic syndrome.He obtained his A.B. summa cum laude in philosophy from Princeton University and a Ph.D. and M.D. from Baylor College of Medicine.Dr. Kastner led the research culminating in identification of FMF, and he remains a leading figure in the investigation of autoinflammatory diseases.He serves as the Scientific Director of NHGRI and cares for patients with both known and undiagnosed disorders of inflammation at the Clinical Center.Because of his efforts, he is a finalist for the 2018 Service to America Medals, the SAMMIES.He identified 14 other previously unrecognized disorders and has found effective treatments for 12 of them—improving the quality of patients' lives, and in many cases, saving their lives.
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NHGRI 's Inflammatory Disease Section
Researchers discovered a rare inflammatory disease in children caused by a genetic mutation and may already have found an effective method for treating it, according to a new study. The disease otulipenia, which causes significant inflammation in primarily young children, was identified in four children and treated with drugs used for patients with rheumatoid arthritis, say researchers at the National Institutes of Health in a study published in the Proceedings of the National Academy of Sciences. After identifying four children with the condition, and discovering the OTULIN gene was mutated in all four, the researchers found the mutation was causing the protein ubiquitin, important to the regulation of immune molecules, to not be processed properly. "The results have been amazing and life changing for these children and their families," said Dr. Daniel Kastner, scientific director of the National Human Genome Research Institute and head of it's Inflammatory Disease Section.
The award is intended to honor individuals outside of government who also contribute to public service. The award recipients were a diverse group, including scientists who sought cures to rare genetic diseases, as well as government attorneys who worked to bring justice to people who were defrauded by scams. Dr. Daniel Kastner of the National Institutes of Health received the evening's top prize, Federal Employee of the Year. His research uncovered the genetic causes of seven rare auto inflammatory diseases.