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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 …
Staff
Dr. Neil 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 …
File
… 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 …
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 …
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 …
Staff
Dr. Heidi Sofia served as a program director in the Division of Genomic Medicine at the National Human Genome Research Institute from 2010-2023.
Staff
Dr. Erin M. Ramos is the director of the Divison of Genome Sciences at the National Human Genome Research Institute.
… Wright MW, Milko LV, Cherry JM, Giovanni MA, Murray MF, O'Daniel JM, Ramos EM, Santani AB, Scott AF, Plon SE, Rehm HL, …
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 …