Whitney Besse, MD

Dr. Besse received her bachelors degree in Biomedical Engineering from Brown University in 2003, pre-doctoral training in genetics at the Joslin Diabetes Center at the Harvard Medical School, her M.D. from the University of Connecticut School of Medicine in 2009, and clinical training in Internal Medicine/Nephrology at Yale. Her research training Nephrology and Genetics was under the mentorship of Dr. Stefan Somlo, C.N.H Long Professor of Medicine (Nephrology) and Professor of Genetics. Dr. Besse joined Yale School of Medicine faculty in the Department of Internal Medicine, Section of Nephrology in 2019.

Dr. Besse's field of research interest is genetic kidney diseases, with initial focus on polycystic kidney disease. She uses genetic approaches to identify novel disease genes for dominantly inherited polycystic kidney and liver diseases: a phenotypic spectrum from autosomal dominant polycystic kidney disease (ADPKD) to autosomal dominant polycystic liver disease (ADPLD) also known as isolated polycystic liver disease (PCLD). The Besse lab uses in vitro and animal models to further disease gene mechanism investigation. Her identification and investigation of multiple genes has contributed understanding to how the central PKD protein, Polycystin-1, matures through the endoplasmic reticulum. She has contributed approaches for gene validation to the field. Dr. Besse has an active research program recruiting patients with genetically unresolved polycystic kidney and/or liver disease or other inherited kidney diseases for projects involving gene/pathway discovery and variant analysis in genetic kidney diseases. The goal of her lab is to have the identification of novel disease genes serve as an entry point for molecular biology investigation that contributes to a better understanding of disease mechanism and the identification of successful targets for treatments.