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Whitney Besse, MD

Assistant Professor of Medicine (Nephrology)

Contact Information

Whitney Besse, MD

Mailing Address

  • Yale School of Medicine

    Dept. of Internal Medicine, Section of Nephrology, PO Box 208029

    New Haven, CT 06520

    United States

Research Summary

Dr. Besse uses novel gene discovery approaches in exome-sequenced human cohorts to guide investigation of disease mechanism using in vitro, in vivo, and bioinformatic models. She has a large cohort of patients with genetically unresolved autosomal dominant polycystic kidney or liver disease and from this has identified several disease genes encoding proteins in the endoplasmic reticulum necessary for the function of Polycystin-1. She has pioneered approaches for disease gene and variant validation. The Besse lab aims to design and evaluate novel genetic mouse models and in vitro tools to study mechanism of polycystin-dependent cystic and tubulointerstitial phenotypes, and to discovery effectors of functional of Polycystin protein expression. The lab evaluates approaches to increase polycystin protein expression therapeutically in ADPKD and polycystic liver disease.


Research Interests

Genetics; Kidney Diseases; Polycystic Kidney Diseases; Polycystic Kidney, Autosomal Dominant; Health Care; Exome Sequencing

Research Image

Selected Publications

Clinical Trials

ConditionsStudy Title
Diseases of the Cardiovascular System; Diseases of the Kidney & Urinary Tract; Genetics - AdultGenetic Determinants of Aneurysms in Autosomal Dominant Polycystic Kidney Disease
Diseases of the Digestive System - Liver; Genetics - AdultGenetic Studies of Polycystic Livers