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News Release
Over the last 20 years, three families have been unknowingly linked to one another by an unknown illness. Researchers at the National Human Genome Research Institute (NHGRI) and other organizations have now identified the cause of the illness, a new disease called CRIA syndrome. The results of their work were published on Dec. 11 in the journal Nature.
… in the journal Nature . … NHGRI scientific director Daniel Kastner, M.D., Ph.D., a pioneer in the field of …
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 …
Staff
Dr. Hanchard is a clinical investigator within the Center for Precision Health Research (CPHR) and head of the Childhood Complex Disease Genomics Section within the CPHR.
… D Sengupta, G Botha, T Bensellak, G Wells, J Kumuthini, D Shriner, YJ Fakim, AW Ghoorah, E Dareng, T Odia, O Falola, E …
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 …
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… Genomic Variation on Function (U01)Contact: Dan Gilchrist, daniel.gilchrist@nih.gov Objectives: •Develop computational … Genomic Variation on Function (U01)Contact: Dan Gilchrist, daniel.gilchrist@nih.gov Scope of this FOA also … Genomic Variation on Function (U01)Contact: Dan Gilchrist, daniel.gilchrist@nih.gov Budget: •In FY21 budgets are limited …
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 …
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 …
Event
Annual scientific lecture honoring NHGRI's founding scientific director, Jeffrey M. Trent, Ph.D.
… This year's lecture will be given by Carol Greider, Ph.D., Daniel Nathans Professor and Director, Department of …
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 …