BBS Program
Yale University
P.O. Box 208084
New Haven, CT 06520-8084
Tel: 203.785.3735
Fax: 203.785.3734
bbs@yale.edu
Sterling Professor and Chairman of Genetics
Professor of Medicine and Molecular Biophysics & Biochemistry
Investigator, HHMI
B.A. Dartmouth College 1975
M.D. Stanford 1982
Ph.D. Stanford 1986
The common human diseases that account for the vast majority of morbidity and mortality in human populations are known to have underlying inherited components. Advances in human genetics have made the identification of genetic variants contributing to these traits feasible. Such identification promises to revolutionize the diagnostic and therapeutic approaches to these disorders. We have focused on cardiovascular and renal disease. To date, we have identified mutations underlying more than 20 human diseases; these include a host of diseases that define molecular determinants of hypertension, stroke and heart attack. We have gone on from these starting points to use biochemistry and animal models to define the physiologic mechanisms linking genotype and phenotype. These findings have provided new insight into normal and disease biology, are identifying new pathways underlying disease pathogenesis, and are identifying new targets for development of novel therapeutics.