Division of Pulmonary and Critical Care Medicine and Genetics, Department of Medicine, Brigham and Womens Hospital, Harvard Medical School, Boston, Massachusetts, USA
Dr. David J. Kwiatkowski, is a geneticist and oncologist with both focused and broad interests. His focused interests include the tumor suppressor gene syndrome Tuberous Sclerosis Complex and mTOR signaling, and the genetics and pathogenesis of lung, kidney, and bladder cancer. He has broad interests in cancer genetics and computational methods of analysis.
Tuberous Sclerosis Complex (TSC) is a tumor suppressor gene syndrome in which distinctive brain malformations (tubers) and multiple tumor types are commonly seen. I will discuss three different aspects of current TSC research. First, the frequency and clinical implications of mosaicism for TSC1 and TSC2 mutations in TSC. Second, the identification of and mechanistic studies on a novel therapy for TSC tumors, CDK7 inhibition. Third, the absence of somatic mutations in TSC tumors beyond complete loss of TSC1/TSC2, and importance of epigenetic mechanisms and transcriptional driver events in TSC tumor development.
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