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Polymicrogyria Research Collaboration

Neurologists Dr. Christopher Walsh and Dr. Bernard Chang at Beth Israel Deaconess Medical Center in Boston, Dr. William Dobyns at the University of Chicago, and pediatric neuroradiologist Dr. James Barkovich at the University of California at San Francisco are co-investigators on an NIH-sponsored project to study polymicrogyria. The goal of this project is to identify the clinical features and genetic causes associated with different subtypes of polymicrogyria.

Dr. Dobyns and Dr. Chang are spearheading the clinical analysis of these disorders. Dr. Barkovich provides expertise in his review of the MRI films. Dr. Walsh, the principal investigator on the grant which was awarded a Jacob Javits Neuroscience Award for outstanding merit, is gathering DNA samples from Dr. Dobyns as well as from other doctors in Europe and the Middle East. By combining information from all these sources Dr. Walsh hopes to identify the responsible genes, develop diagnostic tests and genetic counseling guidelines, and improve understanding of these complex conditions.

Our recent successes in polymicrogyria research include an article in the Journal Annals of Neurology describing 10 families with a form of polymicrogyria called bilateral frontoparietal polymicrogyria or BFPP (Chang et al, 2003) and an article in the journal Science reporting the identification of the gene that causes this condition (Piao et al, 2004.) We have also written an article about bilateral generalized polymicrogyria (BGP) that will appear in the journal Neurology.

Through this project we can review MRI films free of charge and are happy to answer any questions participants may have about their child’s polymicrogyria.

To participate in this project, please contact our research coordinator by e-mail at walshlab@bidmc.harvard.edu or by phone at (617) 919-4371.