BBS Faculty Member - David Kwiatkowski

David Kwiatkowski

Department of Medicine
Division of Pulmonary and Critical Care Medicine and of Genetics

Brigham and Women's Hospital
Thorn 826C
20 Shattuck St
Boston, MA 02115
Tel: 857-307-0781
Fax: 617-394-2769

The Kwiatkowski Lab is focused on a tumor suppressor gene syndrome, tuberous sclerosis complex (TSC), and cancers that have activation of the mTOR signaling pathway. We also have a broader interest in cancer genetics in general. 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. Most recently we have used massively parallel sequencing and computational methods to identify mosaic mutations in TSC1/TSC2 in nearly all individuals with a diagnosis of TSC in whom previous efforts at mutation identification had failed. Studies on mosaicism in TSC continue. There is a strong interest in the pathogenesis of all of the tumors that occur in TSC, including lymphangioleiomyomatosis (LAM), angiomyolipomas, PEComas, and subependymal giant cell astrocytomas.

We are also interested in non-TSC cancers in which activation of mTORC1 is a driver event, and development of therapeutic strategies for these cancers. Mutations in TSC1/TSC2/MTOR are known in many cancer types, and some patients show good responses to treatment with rapamycin and other inhibitors. We are studying the genetic basis of response and subsequent resistance development. We are working in particular on bladder cancer, clear cell RCC, and chromophobe kidney cancers.

Research approaches in common use in my lab include DNA variation detection, massively parallel sequencing analysis, computational methods for analysis of sequence data, CRISPR for genome editing, both inactivation and activating mutations, primary cell culture, protein analysis and immunoblotting, signaling pathway analysis, and development of mouse models. I am Leader of the Dana Farber/Harvard Cancer Center Cancer Genetics Program, a co-leader of several TCGA analysis working groups, and serve on multiple scientific advisory boards.

Last Update: 1/4/2017


For a complete listing of publications click here.



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