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Clinical Research
This study evaluates patients with inherited metabolic disorders and related medical complications.
Research Training
The Clinical Center Genomics Opportunity promotes precision medicine and development of infrastructure to support clinical genomics at the NIH Clinical Center.
News Release
Daniel Kastner was named Federal Employee of the Year as part of the 2018 Samuel J. Heyman Service to America Medals program.
… such as identifying the gene variant that causes in Familial Mediterranean fever and discovering the genetic basis for a recurrent fever …
News Release
Daniel Kastner, M.D., Ph.D., Scientific Director for the Intramural Research Program at the National Human Genome Research Institute (NHGRI) recognized for his pioneering work on the genomics of autoinflammatory diseases.
… the gene MEFV on chromosome 16 to be responsible for Familial Mediterranean fever. At a time when genomic infrastructure was still …
News Release
NIH researchers have discovered a rare and sometimes lethal inflammatory disease - otulipenia - that primarily affects young children.
… treatments that ease some of the patients' symptoms: fever, skin rashes, diarrhea, joint pain and overall failure … rare and sometimes lethal inflammatory disease that causes fever, skin rashes, diarrhea and joint pain in young …
News Release
Genomic analyses turned up genes that belong to inflammatory pathways.
Staff
Dr. Raman Sood is an associate investigator in the Translational and Functional Genomics Branch and director of the Zebrafish Core at the National Human Genome Research Institute.
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… cosmid contig containing the candidate region for the familial Mediterranean fever locus (MEFV) on chromosome p13.3 . Genomics 42:83-95, …
The Genomics Landscape
In the October 2018 edition of The Genomics Landscape, NHGRI Director Dr. Eric Green highlights Dr. Dan Kastner as the Federal Employee of the Year.
… positional cloning to identify MEFV, the gene mutated in familial Mediterranean fever (FMF). MEFV encodes what was then a novel protein, but …
Event
On November 16-17, 2023, the National Human Genome Institute will co-sponsor a workshop, Advances in the Genetic Architecture of Complex Human Traits, to take a historically grounded and forward-looking approach towards dissecting the genetic architecture of complex traits in humans.