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News Release
NHGRI researchers have discovered clues to the possible cause of recurring, non-contagious fevers and sores that affect only children. Several genes have been implicated with the syndrome, known as PFAPA syndrome (Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis), which could lead to new treatments.
… which means the disease is usually underdiagnosed,” said Daniel Kastner, M.D., Ph.D., senior author of the paper and …
Event
The Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) held its ninth in-person meeting on February 25, 2020, in Bethesda, Maryland.
… Denver-Anschutz Medical Center Shawna Morrison* GECKO Daniel Mueller Professor, Department of Psychiatry University …
Event
NHGRI will hold a workshop in September 2019 focused on Genomics in Medicine and Health.
… 9:25 a.m.  TED-style Idea Talks (5 min each)   Pam Wilson  Daniel Riconda  Shoumita Dasgupta  Dustin Baldridge 9:25 a.m. …
Staff
Dr. Stone is a staff clinician in NHGRI's Inflammatory Disease Section.
… a Senior Staff Fellow for 2 years. In 2007, she joined Dr. Daniel Kastner’s group that studies autoinflammatory diseases …
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.
… 2,560 patients shared variations in the same gene,” said Daniel Kastner, M.D., Ph.D., scientific director of the …
Strategic Vision
Staff within the institute and colleagues in the genomics community organized and contributed to the >50 events associated with the strategic planning process (e.g., town halls, dedicated workshops, conference sessions, and webinars) and provided critical feedback.
… Lori Erby NHGRI Colin Fletcher NHGRI Tina Gatlin NHGRI Dan Gilchrist NHGRI Lucia Hindorff NHGRI Rebecca Hong NHGRI Sara … Koehly NHGRI Daphne Koller Insitro/Stanford University Daniel MacArthur Garvan Institute of Medical Research, … Cecilia Lindgren Oxford Big Data Institute Paul Liu NHGRI Daniel MacArthur Garvan Institute of Medical Research Trudy …
Staff
Dr. Lucia Hindorff is the Lead Extramural Training Program Director in the Training, Diversity, and Health Equity Office at the National Human Genome Research Institute.
… Nucleic Acids Res , pii: gkw1133. 2016. [ PubMed ] O'Daniel JM, McLaughlin HM, Amendola LM, Bale SJ, Berg JS, Bick …
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.
… is something to be evaded by any means available," said Daniel Shriner, Ph.D., staff scientist in the Center for …
News Release
NIH researchers identified gene variants that cause a rare syndrome of sporadic fevers, skin rashes and recurring strokes, beginning early in childhood.
… immunodeficiency disease. NHGRI Scientific Director Daniel Kastner, M.D., Ph.D., led the team of collaborators …