Nancy Braverman
MD, MSc, FACMG
Dr. Braverman is a clinician-scientist, medical and biochemical geneticist, professor and teacher. She has been working in the field of peroxisome biogenesis disorders for more than two decades, and has seen the field grow spectacularly with hope of targeted therapies on the horizon.
RI-MUHC Profile: My research focuses on a group of inherited disorders caused by defects in the genes responsible for the proper function of peroxisomes, important components of cells that help to metabolize lipids, or fatty acids. Peroxisomal disorders cause a progressive disease of the nervous system, eye, hearing, bone, liver, kidney and adrenal glands. My laboratory engineers mouse models of the disorders to investigate how these enzyme defects cause disease. To provide patients and their families with better prognostic information and care, the laboratory has established a patient registry documenting variations in disease outcome and is identifying drugs and therapies that can improve outcomes.