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The Kwiatkowski Lab has many research interests, including the human genetic disease tuberous sclerosis complex (TSC) and all of its related tumors and manifestations; the mTOR signaling pathway and its role in tumor development; thoracic, renal, and bladder cancers.  We also have a broad interest in cancer genetics, with past major roles in several NCI TCGA (The Cancer Genome Atlas) projects, including lung, kidney, bladder cancer, and mesothelioma analyses. We have trained over 70 individuals in the lab, ranging from high school students to post-doctoral fellows, over 10 of whom are now professors at major academic institutions. The lab currently consists of 3 Instructors, 3 post-doctoral fellows, five students working remotely due to the pandemic, with a visiting scientist about to arrive.

I am also a practicing thoracic oncologist, have been a member of the Lung Cancer Mutation Consortium executive committee for 10 years, and am site PI for one thoracic oncology protocol at DFCI.

Our lab is best known for the identification of the TSC1 gene, and a long series of pioneering genetic studies in TSC, including the use of massively parallel sequencing and computational methods to identify mosaic mutations in TSC1/TSC2 in most TSC individuals in whom previous efforts had been unsuccessful at mutation identification, and recent elucidation of the frequency of polyclonal TSC lesion development using a novel homegrown mutation identification method that can detect mutation allele frequencies as low as 0.01%.  However, there have also been major human cancer genetic studies on a variety of cancer types.

We use a variety of approaches in our work, with a primary focus on genetics, epigenetics, and computational analyses, but also heavy use of cell culture, pathway analyses, mouse models, and human pathology investigation.  The fundamental mission is to 1) improve our understanding of mechanisms of disease development in TSC and related conditions, with the premise that such understanding will lead to therapeutic discovery; 2) extend this understanding to the common cancers (kidney, bladder, PEComa) in which Tsc1/TSC2/MTOR mutations are frequently seen; and 3) pursue continually evolving cancer genetic studies broadly.

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