BBS Faculty Member - David Kwiatkowski

David Kwiatkowski

Department of Medicine
Genetics Laboratory, Translational Medicine Division

Brigham and Women's Hospital
Karp Building, Room 6-216
1 Blackfan Circle
Boston, MA 02115
Tel: 617-355-9005
Fax: 617-355-9016

My major research interest is the tumor suppressor gene syndrome tuberous sclerosis (TSC), and the functions of its causative genes, TSC1 and TSC2. We identified the TSC1 gene in 1997, have made numerous mouse models of both Tsc1 and Tsc2, and performed signaling and preclinical therapeutic studies that enabled the clinical use of rapamycin and analogues in this disease. I was the lead editor for the definitive book on this disorder: Tuberous sclerosis complex: Genes, Clinical Features, and Therapeutics (Wiley, 2010). We pursue studies on the human molecular genetics of TSC, develop novel mouse models using conditional alleles of TSC1 and TSC2, explore biochemical and signaling pathways and therapeutic approaches. There is a particular interest in the pathogenesis of all of the tumors that occur in this disease, including lymphangioleiomyomatosis (LAM), angiomyolipomas and PEComas, and subependymal giant cell astrocytomas. We have a particular interest in the development of brain models of TSC. We are also interested in cancers in which deletion or inactivation of the TSC1/TSC2 genes occur, and development of therapeutic strategies for these TSC mutant cancers.

We also pursue more broadly the identification of somatic mutational events involved in the development of bladder and lung cancer, and particularly in translating those findings into clinical application. We have identified several bladder cancer cell lines in which TSC1 is deleted, and are developing mouse models of bladder cancer involving the Tsc1 gene, again with a view to translation of findings into clinical care. A more recent interest under development is the cancer genetics, signaling pathways, and therapeutic strategy development for mesothelioma and chromophobe tumors of the kidney.

Research approaches in common use in my lab include DNA variation detection, deep sequencing analysis and computational methods for analysis of such data, generation of conventional and conditional mouse knock-outs, primary cell culture, protein analysis and immunoblotting, signaling pathway analysis. I am Director of the Brigham and Women's Hospital DNA Sequencing Core Facility, Assistant Director of the Partners Center for Personalized Genetic Medicine, an affiliate member of the Broad Institute, and Leader of the Dana Farber/Harvard Cancer Center Cancer Genetics Program.

Last Update: 8/22/2013


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