DF/HCC Program Affiliation

Lung Cancer
Cancer Genetics, Leader

DF/HCC Associations

Member, Center Scientific Council
Co-Director, High-Throughput Polymorphism Detection

Research Abstract

I have three areas of cancer interest. The first interest is the human genetic disease tuberous sclerosis. This is a tumor suppressor gene syndrome characterized by development of hamartomas in multiple organs, including brain, skin, lungs, and kidneys. My lab has made several seminal discoveries in this disorder over the past 20 years, including identification of the TSC1 gene. We are interested in the human molecular genetics of this syndrome, the biochemical activities of the protein products of the TSC1 and TSC2 genes including regulation of mTORC1, developing authentic mouse models of the disease using null and conditional alleles, testing therapies, and analysis of other genetic events occurring in the major tumors in this condition, angiomyolipoma of the kidney and lymphangioleiomyomatosis. We’re also interested in the role of these genes in cancer in general. The second interest is in thoracic oncology, particularly lung cancer. I see patients within the Thoracic Oncology Program at DFCI/BWH, and frequently participate in clinical trials. The third interest is in the development of cancer mutation testing at the Partners Center for Personalized Genetic Medicine (PCPGM) to enable personalized cancer medicine. I serve as the academic Director of Genotyping and Sequencing at the PCPGM, and as Leader of the Cancer Genetics program of the DF/HCC.

Publications

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