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Clinic for All Ages:
Comprehensive Brain
Malformation Program
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Research Interests

Our laboratory is interested in cellular and genetic mechanisms of development of the cerebral cortex, the largest structure of the mammalian brain. The cortex represents a folded sheet of neurons that forms a wrapping around the outside of the brain. The cortex is a good system for studying neuronal development, since there are known mutations that systematically disrupt its development.

Abnormal development of the cerebral cortex in humans results in epilepsy, autism, mental retardation, dyslexia, and other learning disorders, and perhaps some psychiatric conditions as well. Several projects are directed at trying to understand the basic biology of the cortex by studying the mutations that disturb its development.

1. Disorders of Brain Development
  Bilateral Frontoparietal Polymicrogyria
  Double Cortex Syndrome
  Interhemispheric Cyst/Agenesis of Corpus Callosum
  Joubert Syndrome
  Lissencephaly with Cerebellar Hypoplasia
  Microcephaly
  Perisylvian Polymicrogyria
  Periventricular Heterotopia
  Schizencephaly
  Walker Warburg Syndrome
  Cognitive and Functional Effects of Brain Malformations
  Epilepsy and Focal Malformations of Cortical Development
 
2. Human Mental Retardation, Autism, and Psychiatric Disorders
  Autism
  Nonsyndromic Mental Retardation
  Mental Illness
 
3. Cell Lineage in the Cerebral Cortex
  Embryonic growth and patterning of the cerebral cortex and craniofacial complex
 
4. Neuronal Migration to the Cerebral Cortex
  Functional characterization of DAB1 in neuronal migration
  Functional characterization of the doublecortin protein
  Functional characterization of Filamin A in the brain
  Positional cloning of DAB1 in the scrambler mutant
  Positional cloning of PAK3 as a cause of human mental retardation
  Microcephaly and seizures
 
5. Development and Evolution of the Human Cerebral Cortex
  Human Cortical Asymmetry
  Patterning the Perisylvian Cortex
  Biological Function of ASPM