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Human
Neuronal Migration Disorders
Investigators: 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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