at San Francisco, California
study started
estimated completion
Principal Investigator
by Elliott H Sherr, MD, PhDJames Barkovich, MDPratik Mukherjee, MD, PhD
Photo of Elliott H Sherr
Elliott H Sherr
Photo of James Barkovich
James Barkovich
Photo 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


  • University of California, San francisco accepting new patients
    San Francisco California 94143 United States

Lead Scientists at UCSF

  • Elliott H Sherr, MD, PhD
    Professor, Neurology. Authored (or co-authored) 151 research publications.
  • James Barkovich, MD
    Professor Emeritus, Radiology. Authored (or co-authored) 496 research publications. Research interests: Pediatric Neuroradiology · neonatal brain injury · use of magnetic resonance imaging (MRI) to better understand both normal brain development and to recognize and classify genetic disorders that underlie abnormal brain development..
  • Pratik Mukherjee, MD, PhD
    Professor, Radiology. Authored (or co-authored) 183 research publications. Research interests: Brain development · computational neuroscience · connectomics · diffusion tensor imaging (DTI) · epilepsy · functional MRI (fMRI) · machine learning · magnetoencephalography (MEG) · pediatric neuroradiology · traumatic brain injury (TBI) · ultra-high field MRI · white matter tractography.


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) UCSF Clinical Trials
Study Type
Last Updated