Xilma Ortiz-Gonzalez, MD, PhD
University of Pennsylvania & Children's Hospital of Philadelphia
Dr. Xilma Ortiz-Gonzalez is a physician-scientist specializing in pediatric neurogenetics. She trained as a child neurologist at CHOP, and her clinical practice focuses on the diagnosis and management of ultra-rare disorders. She has contributed to establishing, functionally validating, and/or expanding the phenotypic characterization of over 25 pediatric neurodevelopmental disorders. Dr. Ortiz-Gonzalez was born and raised in Puerto Rico, hence her particular interest in rare disorders affecting underserved populations and founder variants linked to Puerto Rican (“Boricua”) ancestry. She led the characterization of two rare neurodevelopmental disorders associated with a Boricua founder effect in children: TBCK Encephaloneuronopathy (TBCKE) and FRRS1L Epileptic Encephalopathy.
Dr. Ortiz-Gonzalez’s research laboratory focuses on the molecular mechanisms underlying ultra-rare variants that cause pediatric-onset neurodegeneration, including mitochondrial dysfunction. Her laboratory uses patient-derived iPSC stem cells with the ultimate goal of identifying potential therapeutic strategies. She is the recipient of numerous awards, including the RWJ Harold Amos Faculty Development Award, the Burroughs Welcome Fund CAMS Award, the Al Dia Top Doctor Award, the ANA Emerging Scholar Award & the Philadelphia Magazine Top Doctor Award.