Harvard Catalyst Profiles

My research concentrates on the design and analysis of genetic association studies, with particular emphasis on studies linking variation in germline DNA to cancer risk. I have played a key role in multiple international consortia studying genetics and other exposures in relation to cancer risk over the last ten years: I have been a member of the statistical working group of the Breast and Prostate Cancer Cohort Consortium since its inception, and currently chair the BPC3 steering committee; I played a leading role in the design and analysis of GWAS of breast, prostate and pancreatic cancers as part of the NCI's Cancer Genetic Markers of Susceptibility and PanScan projects; and I chair the Analytic Working Group for the NCI's "post-GWAS" GAME-ON consortium, which aims to better understand the biological mechanisms underlying GWAS-identified cancer risk markers at five cancer sites (including breast and lung) and their public health implications.

I am also the contact PI for the epidemiology project of the breast cancer arm of GAME-ON, which focuses on gene-environment interactions and risk prediction. I have been the primary statistical geneticist for the Nurses' Health Study (NHS) and Health Professionals Follow-up Study (HPFS) for over ten years, and oversee the genotype databases for both studies, including genome-wide association data on over 20,000 subjects. I have collaborated on numerous analyses in the NHS and HPFS examining associations between genetic markers, behaviors (including diet and smoking), and risk of complex diseases. I have also collaborated with NHS investigators on the analyses of metabolite profiles in a case-control study of pancreatic cancer.

My current methodological research focuses on 1) efficient and interpretable "gene x environment interaction" analyses, 2) genetic risk prediction using common and rare genetic variation, biomarkers (including metabolites), and clinical and environmental risk factors, and 3) methods linking low-frequency variation, emerging functional annotation, and risk of complex disease.