Nancy Braverman
Associate Professor, Department of Human Genetics, Department of Pediatrics, Department of Medicine
Dr. Braverman received her BSc from Cornell University and her Master in Human Genetics from Sarah Lawrence College銆� She then received her M.D. from Tulane University, completed residency training in Pediatrics at Yale-New Haven hospital, followed by a Fellowship in Clinical and Biochemical Genetics at Johns Hopkins.
The research in her laboratory is focused 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 can involve either the assembly of the peroxisome itself (as in peroxisome biogenesis disorders), or specific enzymes located in the peroxisome. All of these conditions feature the loss of enzymes required by the body to metabolize important lipids. The consequences are a progressive disease of the nervous system, eye, hearing, bone, liver, kidney and adrenal glands. Her 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. The clinical trial of one drug is underway.
