Pyruvate Dehydrogenase, Compassionate Use & Clinical Trials

Rebecca Ganetzky, MD

Rebecca Ganetzky, MD is an associate professor of pediatrics at the University of Pennsylvania and an attending physician in the division of Human Genetics & Genomics at the Children’s Hospital of Philadelphia. She is passionate about building biochemical diagnostic tools to help identify, prognosticate and monitor patients with inborn disorders of energy metabolism. She has special clinical interests in primary lactic acidosis, disorders of pyruvate and tricarboxylic acid metabolism, mitochondrial ATP synthase deficiency and Pearson syndrome.  Dr. Ganetzky graduated magna cum laude from Oberlin College with a BA in Biology & Computer Science from Oberlin College; she received a medical degree from the Cleveland Clinic Lerner College of Medicine of Case Western Reserve University and completed a Pediatrics/Clinical Genetics combined residency and a Clinical Biochemical Genetics fellowship at the Children's Hospital of Philadelphia.