https://neurosciences.ucsd.edu/research/labs/gleeson/index.html One of the ways to uncover mechanisms of disease is through studying the genetic factors necessary for brain development in humans. Our laboratory seeks to identify genes involved in the development of the brain from study of these special patients. We investigate the mechanisms of disease for genes that we and others identify as disr
upted in patients. Finally, using a combination of animal and stem cell models, we seek to develop new treatments for pediatric brain disease. Our recent work has uncovered several pediatric brain diseases that were previously considered untreatable to have obvious points of treatment. We described mutations in the BCKDK gene in patients with autism and epilepsy that predict that they should respond to simple nutritional supplementation of branched chain amino acids. We described mutations in the MTOR, AKT3, PIK3CA genes in patients with hemimegalencephaly that predict they should respond to medications inhibiting the mTOR pathway. We described mutations in the AMPD2 gene in patients with a form of neurodegeneration that predict that they should respond to simple nutritional supplementation with an over-the-counter supplement AICAR. We are excited to find these potentially treatable conditions in patients hiding in our clinics, and hope that the research field can help us move forward to developing treatments for what were previously considered untreatable conditions. We are fortunate to receive support from the Howard Hughes Medical Institute, the National Institutes of Health, the Simons Foundation for Autism Research Initiative and the Qatar National Research Foundation. Past research was funded by the Searle Scholars Fund, the Merck Program in the Developmental Disabilities, the Burroughs Welcome Fund, the American Epilepsy Foundation, and the Ray Thomas Edwards Foundation.
