Research and Clinical Trials
The Division’s research focuses on a wide range of neurological disorders, including mitochondrial disease, movement disorders, epilepsy, Angelman’s syndrome, and cognitive impairment associated with autism spectrum disorders and genetic/metabolic disorders.
Among our current research projects, Joseph G. Gleeson, M.D., is using genome sequencing to identify mutations in rare and undiagnosed conditions, in which the brain does not develop or function properly. He has made some remarkable discoveries, most recently identifying a gene mutation as the cause of a rare form of autism (autism with epilepsy). This groundbreaking research further discovered that nutritional supplements may be a potential treatment for this disorder. (Watch the video below and read the article in Time magazine to learn more.)
Video: Dr. Joseph Gleeson's discovery of a gene mutation for a potentially treatable form of autism.
Additionally, as a result of sequencing the genome of a patient with a rare form of epilepsy, he was able to provide a treatment that dramatically reduced her seizures. Read this amazing story.
Most recently, Dr. Gleeson and his team identified a gene mutation responsible for a particularly severe form of incurable neurodegenerative disease affecting the cerebellum in children. As with the autism/epilepsy disorder, the team discovered that this may be treated or possibly prevented with a nutritional supplement. Learn more.
Dr. Gleeson and his colleagues were also awarded a grant from the California Institute for Regenerative Medicine as part of the CIRM's Human Induced Pluripotent Stem Cell Initiative. The researchers aim to identify 500 patients, primarily from Rady Children's, with brain disorders combining symptoms of autism, cerebral palsy and epilepsy. The goal is to develop a database of biological, medical, radiographic and genetic information that can be used to study stem cell mechanisms of disease and design therapeutic interventions. Please call 858-822-3538 for information or to participate.
For detailed information on research activities of our team members, visit the UC San Diego Department of Pediatrics website.
- Division of Neurology
8010 Frost Street, Suite 510
San Diego, CA 92123
- Phone: 858-966-5819, option 2
- Click here for all locations.