Professor of Medicine, Harvard Medical School
Senior Physician, Brigham & Women’s Hospital
Overview: We are interested broadly in the use of genetic approaches to understand human disease. One major interest is the tumor suppressor gene syndrome tuberous sclerosis. We pursue studies on the human molecular genetics of this disease, develop mouse models using null and conditional alleles of TSC1 and TSC2, explore biochemical and signaling pathways, and explore therapeutic approaches. There is a particular interest in the generation of brain models of this disorder. A second major interest is lung cancer genetics. We are developing assays for the detection of clinically relevant mutations in lung cancer specimens, and are exploring the role of the TSC genes in lung cancer development.
Research approaches in common use in my lab include DNA variation detection, automated sequencing, generation of conventional and conditional mouse knock-outs, primary cell culture, protein analysis and immunoblotting, signaling pathway analysis, and high throughput genotyping. I am Director of the Brigham and Women's Hospital DNA Sequencing Core Facility, and Director of the Harvard Partners Center for Genetics and Genomics Genotyping Facility.
