at San Francisco, California
study started
completion around
Principal Investigator
by Elliott H Sherr, MD, PhDJames Barkovich, MDPratik Mukherjee, MD, PhD
Headshot of Elliott H Sherr
Elliott H Sherr
Headshot of Pratik Mukherjee
Pratik Mukherjee



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.

Official Title

Disorders of Cerebral Development: A Phenotypic and Genetic Analysis


We are studying both the genetics and clinical features of these disorders. We hope to understand the problems faced by individuals with these disorders as well as their causes. In the future, we hope to develop therapies that are geared specifically for individuals based on the underlying biology. To participate in the study, you will be asked to provide a copy of the magnetic resonance imaging (MRI) documenting Agenesis Corpus Callosum (ACC), Polymicrogyria (PMG), or Dandy-Walker malformation (DWM), clinical information, and saliva or blood samples from the affected individual and from the parents. Please see contact information and our webpage below.


Brain Disorders, Aicardi Syndrome, Agenesis Corpus Callosum, Polymicrogyria, Dandy-Walker, Brain Malformation, Autism, Epilepsy, Mental Retardation, MRI, Agenesis of the Corpus Callosum (complete or partial), Confirmed by a brain MRI., Aicardi Syndrome., Brain Diseases


You can join if…

  • Clinical diagnosis of agenesis or dysgenesis of the corpus callosum, polymicrogyria, or Dandy-Walker malformation
  • Should be confirmed by an MRI (Magnetic Resonance Imaging) of the brain

You CAN'T join if...

- Fully formed but hypoplastic corpus callosum


  • UCSF accepting new patients
    San Francisco California 94143 United States

Lead Scientists at UCSF

  • Elliott H Sherr, MD, PhD
    Dr. Elliott H. Sherr is a pediatric neurologist dedicated to caring for children with neurological disorders and to finding the causes and best treatments for these diseases. He has a focus on treating children with MRI-visible disorders of brain development – patients who frequently have epilepsy, developmental delay and autism.
  • James Barkovich, MD
  • Pratik Mukherjee, MD, PhD
    Pratik Mukherjee, MD, PhD, is a Professor in Residence in the Department Radiology and Biomedical Imaging, Bioengineering, and he is an attending neuroradiologist at the University of California, San Francisco. He is the Director of the Center for Imaging of Neurodegenerative Disease (CIND) based at the San Francisco VA Medical Center.


accepting new patients
Start Date
Completion Date
University of California, San Francisco
more information about this study: Agenesis of the Corpus Callosum, Genetics and Clinical features National Organization of the Disorders of the Corpus Callosum (a non-profit corporation)
Study Type
Expecting 2000 study participants
Last Updated