In honor of Rare Disease Day 2024, Jerry Vockley MD, PhD, will discuss a new era in therapies for rare diseases that he deems “The Alice Approach: Down the Rabbit Hole and Back Up Again.” Dr. Vockley is a medical geneticist, chief of the Division of Medical Genetics, and director of the Center for Rare Disease Therapy at UPMC Children’s Hospital of Pittsburgh. He is also the Cleveland Family Endowed Professor of pediatric research at the University of Pittsburgh School of Medicine. Dr. Vockley is internationally recognized as a leader in the field of inborn errors of metabolism. His lab has been responsible for identifying multiple new genetic disorders, many of them defects in mitochondrial energy metabolism, and he has published nearly 300 scientific articles in peer review journals. His current research focuses on the molecular architecture of mitochondrial energy metabolism, in which he is breaking new ground in describing the role of dysfunction of mitochondrial energy metabolism in such common conditions as diabetes, obesity, and Alzheimer disease, and branched chain amino acid metabolism. He also is a leader in the development and testing of novel therapeutic agents for treating inborn errors of metabolism. Dr. Vockley is the co-founder and director of the North American Metabolic Academy established by the SIMD to help educate the next generation of metabolic physicians in the United States, and serves as associate editor for the journal Molecular Genetics and Metabolism. He is founder of the International Network on Fatty Acid Oxidation Research and Management (INFORM). He is a Founding Fellow of the American College of Medical Genetics and Genomics, and currently serves on its board of directors. His presentation will be followed by a question-and-answer-session.
