Disorders of Cerebral Development

This study investigates the clinical and genetic causes of a wide range of cortical malformations and neurodevelopmental disorders. These include: Agenesis/Dysgenesis of the Corpus Callosum (A/DCC), Aicardi Syndrome, Polymicrogyria (PMG), Periventricular Nodular Heterotopias (PVNH), Subcortical Heterotopias (SCH), Dandy-Walker Malformation (DWM), and other malformations of cortical development. This research yields high potential in uncovering the genetic causes of ACC and other neurodevelopmental disorders in order to provide families more information regarding outcomes and causes for patients.

What is involved?

  • Blood draw
  • Sharing of medical records and imaging
  • Survey questionnaires
  • A total of 1-2 hours of participating, can be completed at home

Who can participate?

  • People with a diagnosis or suspected to have a neurodevelopmental disorder such as Agenesis/Dysgenesis of the Corpus Callosum (ACC/DCC), Aicardi Syndrome, Polymicrogyria (PMG), Perventricular Nodular Heterotopias (PVNH), Subcortical Herterotopias (SCH), and Dandy-Walker Malformation (DWM). 
  • If under 18, parent/guardian MUST participate along with minor
  • Both parents and siblings will be asked to participate if available. 

How to participate?