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