Xilma Ortiz-Gonzalez, MD, PhD

University of Pennsylvania

Dr. Ortiz-Gonzalez is a physician-scientist specializing in pediatric neurogenetics. Her clinical work focuses on finding a unifying genetic diagnosis for children with rare neurodevelopmental disorders. Her research is informed by her patients and focuses on understanding how genetic changes, in particular those leading to mitochondrial dysfunction and pediatric neurodegeneration. Her clinical work led to the co-discovery of the syndrome caused by mutations in the gene TBCK. Her long-term goal is to develop new disease models that inform the cause of these rare genetic disorders, in order to develop effective targeted therapies.