Research & Publications
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.
Genetics; Kidney Diseases; Polycystic Kidney Diseases; Polycystic Kidney, Autosomal Dominant; Health Care; Exome Sequencing