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Human Neuronal Migration DisordersInvestigators: Gary
D. Clark, M.D. With modern imaging techiques (MRI scans, CT scans) it has been increasingly realized that a significant portion of children with infantile spasms, epilepsy and mental retardation have disorders of brain formation. In fact, two disorders of brain formation, lissencephaly and double cortex, are uniformly associated with all of the above clinical problems. Therefore, Dr. Clark’s research centers around understanding the molecular pathways in brain that lead to proper brain development. This
strategy has been to understand the pathways used by genes known to
cause lissencephaly and double cortex syndrome, LIS1 and
Doublecortin. Using state-of-the-art techniques in molecular
biology, Dr. Clark and his collaborators have recently discovered
several molecules that interact with these genes. In
particular,
the Lis1 protein was found to interact with Dab1 to regulate Reelin
signaling during brain development. This work was described
in a
Nov 2003 Nature Genetics article, and work is ongoing to better
characterize these interactions and their significance in neurological
development. Dr. Clark has also developed and studied genetic mouse models of lissencephaly and double cortex. One recently developed animal model has myoclonus and may have myoclonic seizures which are similar to infantile spasms. This research may eventually lead to understanding and treating brain developmental disorders leading to infantile spasms, epilepsy and mental retardation.
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