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Genetics and Genomics Branch
"Dr. Kastner has accepted the position of Scientific Director of the National Human Genome Institute (NHGRI) effective Oct. 10, 2010 (see press release http://www.genome.gov/27541091). Dr. Kastner will retain the position of Adjunct Investigator in NIAMS and patients with periodic fever syndromes and related disease will be cared for jointly by an NIH Inter-Institute Program in Autoinflammatory Diseases. His laboratory staff are now members of the NHGRI."
The mission of the Genetics and Genomics Branch (GGB) is to identify and characterize genes that confer susceptibility to rheumatic or inflammatory diseases in man. This includes both the study of Mendelian autoinflammatory disorders such as familial Mediterranean fever (FMF) and the TNF receptor associated periodic syndrome (TRAPS), and the study of genetically complex conditions such as rheumatoid arthritis. Scientific activities undertaken by the GGB include gene mapping and sequencing, in vitro functional studies of novel genes and their protein products, gene expression microarrays, and the development of mouse knockout and knockin models. In collaboration with members of the Office of the Clinical Director, the GGB also conducts natural history studies of the hereditary periodic fevers and treatment studies of selected genetically-defined conditions.
The GGB is currently divided into an Inflammatory Biology Section, and a Genomics Section that is in turn subdivided into a Complex Disease Genetics Unit and a Microarray Unit. The Inflammatory Biology Section concentrates on Mendelian disorders of inflammation, and has played a major role in the identification of the genes underlying FMF, TRAPS, and, most recently, the neonatal onset multisystem inflammatory disease (NOMID). Current studies are aimed both at characterizing the genes that have already been discovered and finding new loci in patients with unexplained inflammatory disorders. The Complex Disease Genetics Unit is currently engaged in fine mapping studies of genomic regions that may harbor rheumatoid arthritis susceptibility genes. The Microarray Unit is developing cDNA microarray resources for the study of gene expression profiles in humans and mice.
Updated October 12, 2010