Associate Professor of Internal Medicine and Genetics

* A.B. Harvard College, 1980
* M.D. Columbia University, 1984

Research Interests:

Genetic causes of liver and kidney disease

Current Research:

The human polycystic diseases comprise a group of Mendelian traits that are a leading genetic cause of liver and kidney failure in man. We are taking a longitudinal approach beginning with positional cloning to identify and study the genes responsible for autosomal dominant polycystic kidney disease (ADPKD), autosomal dominant polycystic liver disease (ADPLD) and autosomal recessive polycsytic kidney disease (ARPKD). Given genetic heterogeneity for both dominant traits, there are at least 5 human disease genes under study. We cloned the PKD2gene and have produced mouse models of both PKD2and PKD1. Since both gene products are novel, developmentally important, integral membrane proteins related to calcium channels, we are using a combination of cell biological, physiological, and developmental biological approaches to understand their normal functions. We are engaged in identifying additional factors acting in concert with these proteins and are using the animal models to study the abnormal pathophysiology of the disease processes. The positional cloning of the ADPLD and ARPKD genes are at various stages of completion. Our goal is to achieve an integrated understanding of polycystic diseases and use this understanding to design and test specific therapeutic strategies for these disorders.