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Center on Human Development and Disability
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CHDD is located on the Lake Washington Ship Canal

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Collaborative Research Area on Brain Malformation Disorders

Coordinators: Daniel A. Doherty, M.D., Ph.D. and William Dobyns, M.D.


The Brain Malformation Disorders Collaborative Research Area brings together a broad range of affiliates to study all aspects of early brain development that result in brain malformations. Members of this CRA study early forebrain developmental disorders such as agenesis of the corpus callosum, mid-hindbrain disorders such as rhombencephalosynapsis, Dandy-Walker malformation and Joubert syndrome, disorders of brain size including microcephaly and megalencephaly, and cortical malformations such as lissencephaly and polymicrogyria. A major focus of this CRA is to identify single gene defects that cause these disorders. Immediate benefits include diagnostic and carrier testing, focused evaluation for associated medical complications, more precise recurrence risk counseling and improved prognostic information. Genetic causes also provide an entry point to define the biological mechanisms involved.

Key Faculty Investigators


University of Washington • Center on Human Development and Disability Box 357920 • Seattle WA 98195-7920 USA • 206-543-7701 •chdd@uw.edu