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Research
Office of the Clinical Director
Senior Investigator
Phone: 301-496-8364
Building: 10, Room: 6N204
E-mail: kastnerd@mail.nih.gov
Dr. Dan Kastner attended Princeton University, and received his A.B. degree summa cum laude in philosophy in 1973, winning the Alexander Guthrie McCosh Prize for his thesis on linguistic philosophy. Dan then went on enroll in the M.D., Ph.D. program at Baylor College of Medicine. During his graduate studies with Dr. Robert R. Rich in the Department of Microbiology and Immunology, Dan was the first to demonstrate cytotoxic T-lymphocytes directed against the MHC-associated Qa-1 molecule. As a medical student, he was elected to AOA, and he received his M.D., with honor, in 1982. Dan went on to do his residency in Internal Medicine at Baylor, and was Chief Resident in 1985.
Dan's career at the NIH began as a Rheumatology Fellow with Dr. Alfred D. Steinberg, studying B-cells in lupus mice. Later in his fellowship, Dan's research interests shifted towards the genetic basis of human rheumatic disease. By the time that he was appointed a Senior Investigator in the Arthritis and Rheumatism Branch of NIAMS, he had begun a project to identify the gene for familial Mediterranean fever by positional cloning. In 1992 his laboratory mapped the susceptibility locus to chromosome 16p, and in 1997 this work culminated in the identification of the FMF gene as a novel inflammatory regulator expressed in granulocytes. Two years later Dan's lab discovered that a dominantly inherited periodic fever syndrome similar to FMF is caused by mutations in the p55 TNF-receptor, a result that has led to the successful use of anti-TNF agents in this disorder. More recently his group played an important role in the identification of mutations in CIAS1 associated with neonatal onset multisystem inflammatory disease (NOMID). During the last 10 years, Dan's lab has also made important contributions to understanding the genetic basis of cystinuria, the most common inherited form of kidney stones.
Dan is a member of a number of professional organizations, including the American College of Rheumatology, the American Society of Human Genetics, and the American Society for Clinical Investigation. He is the recipient of a number of awards, including the NIH Director's Award, the Paul Klemperer Award of the New York Academy of Medicine, the Lee C. Howley Prize for Research in Arthritis from the National Arthritis Foundation, and the NIAMS Mentoring Award.
Other NIAMS Affiliations
Genetics and Genomics BranchGenomics Section
Inflammatory Biology Section
Complex Disease Genetics Unit
Selected Publications
Touitou I, Ben-Chetrit E, Gershoni-Baruch R, Grateau G, Kastner DL, Kone-Paut I, Livneh A, Manna R, Mansour I, Ozdogan H, Ozen S, Sarkisian T, Tunca M, Yalcinkaya F. Allogenic bone marrow transplantation: not a treatment yet for familial Mediterranean fever. Blood. 2003; 102(1):409.
Aringer M, Hofmann SR, Frucht DM, Chen M, Centola M, Morinobu A, Visconti R, Kastner DL, Smolen JS, O'Shea JJ. Characterization and analysis of the proximal Janus Kinase 3 promoter. J Immunol. 170(12):6057-64.
Takada K, Aksentijevich I, Mahadevan V, Dean JA, Kelley RI, Kastner DL. Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome. Arthritis Rheum. 2003; 48(9):2645-51.
Soares ML, Coelho T, Sousa A, Holmgren G, Saraiva MJ, Kastner DL, Buxbaum JN. Haplotypes and DNA sequence variation within and surrounding the transthyretin gene: genotype-phenotype correlations in familial amyloid polyneuropathy (V30M) in Portugal and Sweden. Eur J Hum Genet. 2004; 12(3): 225-237.
Shoham NG, Centola M, Mansfield E, Hull KM, Wood G, Wise CA, Kastner DL. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Natl Acad Sci U S A. 2003; 100(23): 13501-6.
