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.
Dr. Goldberg's research program focuses on investigating cerebral cortical circuit function and dysfunction in neurodevelopmental disorders. Using a variety of research techniques, Dr. Goldberg has a specific research interest in the workings of neuron subtype called GABAergic inhibitory interneuron and the role of interneuron dysfunction in disease.
Dr. Glessner’s current research focuses on childhood neuropsychiatric and neurodevelopmental disorders along with the genetic architecture associated with them, including single nucleotide polymorphisms, single nucleotide variations, and copy number variations ascertained by genomic technologies.
Dr. Bhoj's genetics research aims to discover new human disease genes, their mechanisms, and potential targeted therapies. In addition to ongoing gene discovery efforts, Dr. Bhoj focuses on three novel genes that lead to pediatric neurologic dysfunction: TBC1 domain-containing kinase, Histone 3.3 (H3F3A and H3F3B), and MAP4K4.