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Whitney Besse, MD

Assistant Professor of Medicine (Nephrology); Course Director, Noon Conference Series, Internal 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 gene and variant validation, and is focusing efforts on the two most common non-glomerular genetic kidney diseases with the goal of identifying targets for treatment.


Research Interests

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

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
Hepatitis; HIV/AIDS; Immune System; Infectious DiseasesScreening In Anticipation of Future Research
Diseases of the Digestive System - Liver; Genetics - AdultGenetic Studies of Polycystic Livers