University of California, San Francisco (UCSF)
Developing Better Treatments
Dr. Elliott Sherr and his collaborators at University of California, San Francisco (UCSF) are studying the genetic causes of disorders of cognition and epilepsy, in particular disorders of brain development that affect the corpus callosum, such as Aicardi syndrome, as well as two additional brain malformations, polymicrogyria and Dandy-Walker malformation. The goal of the investigators’ research is to use a better understanding of the underlying genetic causes as a foundation to develop better treatments for these groups of patients.
Imaging studies demonstrate a unique cerebral malformation complex that includes callosal agenesis and other characteristic findings: polymicrogyria, heterotopia, cysts and a marked asymmetry of the cerebral hemispheres and microscopic evaluation of brain has demonstrated disruption of normal cortical layering and cerebral perinuclear inclusions that contain cytoskeletal elements. These findings suggest that the causative gene may be critical to establishing neuronal and overall cerebral patterning during development.
We have recruited a large cohort of these patients and are using a novel genetic approach, array capture, followed by high throughput sequencing to identify the gene in these patients and develop a model to study how this gene regulates cerebral development.
Please visit this link to see the updated page regarding clinical trials related to AS:
https://clinicaltrials.ucsf.edu/aicardi-syndrome
Elliott H. Sherr, M.D., Ph.D., Associate Professor of Neurology and Pediatrics
University of California San Francisco (UCSF) Department of Neurology
505 Parnassus Avenue
Box 0114
San Francisco, CA 94143-0114
Website: https://bms.ucsf.edu/directory/faculty/elliott-sherr-md-phd
Dr. Elliott H. Sherr is dedicated to the care of children with neurological disorders and to finding the causes of and treatments for these diseases. He directs the Comprehensive Center for Brain Development at UCSF, which focuses on the treatment of children with disorders of brain development. He is also co-director of the UCSF Neurometabolic Program and Clinic, which diagnoses and treats children with neurological diseases caused by abnormal metabolism, such as phenylketonuria (PKU) and adrenoleukodystrophy. His research focuses on the genetics, biology and treatment of autism and epilepsy, work that is funded by the NIH, March of Dimes and private donors. For this work, Dr. Sherr was a recipient of both the Child Neurology Foundation Scientific Award and the Child Neurology Society Young Investigator Award.
Dr. Sherr graduated from Stanford University with undergraduate degrees in philosophy and biology. He earned a Ph.D. in neuroscience and a medical degree from Columbia University and has been on the UCSF faculty since 2000. He lives in San Francisco with his wife, a biotechnology financial officer, and their three children.