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Xilma R Ortiz-Gonzalez is an Associate Professor in the Department of Neurology at the Perelman School of Medicine, University of Pennsylvania. She holds an MD and PhD, with extensive training in pediatric neurogenetics and mitochondrial disease. Her research focuses on pediatric neurodegenerative disorders and rare genetic conditions, aiming to enhance understanding of neurobiological pathways crucial for maintaining brain health. Dr. Ortiz-Gonzalez's lab explores the role of mitochondrial dysfunction in neurodegenerative phenotypes, utilizing induced pluripotent stem cells, patient-derived IPSC models, zebrafish models, and various mitochondrial function assays. Through confocal live imaging, she investigates novel human disease genes and their implications in neurodegeneration. Her clinical expertise includes pediatric neurogenetics and mitochondrial diseases, particularly TBCK encephalopathy.
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