Silvia Vilarinho, MD, PhD, is a physician-scientist whose research integrates human genetics, genomics, and experimental disease modeling to uncover mechanisms of liver disease and advance precision medicine. Her laboratory uses human genetic variation and rare liver diseases as a lens to identify disease genes and biological pathways relevant to both rare and common liver disorders. Her work has led to the discovery and characterization of several monogenic liver diseases involving bile acid metabolism, cholangiocyte biology, and liver endothelial cell homeostasis. Her research combines genomic medicine with cellular models, organoids, and in vivo mouse models to define disease mechanisms and identify therapeutic opportunities. A major focus of her program is translating genetic discoveries from patients with rare and undiagnosed liver disease into improved diagnosis, mechanistic understanding, and targeted therapies.