Brain Development Research Program

Description

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.

Conditions

Brain Disorders, Aicardi Syndrome

Study Overview

Study Details

Study overview

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.

Disorders of Cerebral Development: A Phenotypic and Genetic Analysis

Brain Development Research Program

Condition
Brain Disorders
Intervention / Treatment

-

Contacts and Locations

San Francisco

University of California, San francisco, San Francisco, California, United States, 94143

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * 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
  • * Fully formed but hypoplastic corpus callosum

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

University of California, San Francisco,

Elliott H Sherr, MD, PhD, PRINCIPAL_INVESTIGATOR, University of California, San Francisco

James Barkovich, MD, PRINCIPAL_INVESTIGATOR, University of California, San Francisco

Pratik Mukherjee, MD, PhD, PRINCIPAL_INVESTIGATOR, University of California, San Francisco

Study Record Dates

2025-01