The Ortiz-Gonzalez Lab focuses on translational neuroscience, fueled by the belief that there is much neurobiology to learn from patients with rare genetic disorders that disrupt normal neurodevelopment. The lab is particularly interested in whether mitochondrial dysfunction can be a common underlying mechanism in rare pediatric neurodegenerative disorders. Currently, there are limited treatments for genetic disorders, so the long-term goal is to develop better disease models and tools to screen for novel therapeutic interventions.
- Modeling mitochondrial disease with human induced pluripotent stem cells (iPSC): We have developed the first human model of ANT1 cardiomyopathy using patient derived, IPSC-cardiomyocytes. The lab is interested in using these models to ask how bioenergetics defects cause preferentially cardiac and neurological dysfunction
- TBCK Encephaloneuronopathy: Xilma Ortiz-Gonzalez, MD, PhD, worked with the team that discovered that mutations in the TBCK gene cause a neurodevelopmental syndrome with variable severity. The lab was the first to characterize the clinical and autophagy defects in patients with the Boricua mutation. The lab is working on better understanding how mutations in this gene cause disease with the goal of developing better therapeutic strategies for the disease
- Gene discovery in neurogenetics: By combining clinical and laboratory work and in collaboration with researchers throughout the world, the Ortiz-Gonzalez Lab has contributed to establishing the genetic links that define neurodevelopmental syndromes. These disorders often cause children to present with neurologic symptoms including epilepsy, developmental delays or abnormal brain MRI findings.
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 affecting mitochondrial function, cause disease so we can develop better treatments for these children in the future.