Silvia Vilarinho, MD, PhD

Silvia Vilarinho is a physician-scientist who uses genetics, genomics and human samples to investigate the molecular basis of various liver diseases of unknown etiology. Using these approaches, we have identified a new mendelian form of non-cirrhotic portal hypertension, a novel bile acid disorder due to ACOX2 deficiency and a new cholestatic disorder due to mutations in KIF12. Our research goal is to discover new genes important in liver function both in health and disease and to use cell biology and animal models to determine the specific mechanism(s) linking mutant gene to disease, with potential diagnostic, therapeutic and prognostic applications.