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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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Kathleen J. Millen, Ph.D.

Associate Professor of Pediatrics
Research Affiliate, Center on Human Development and Disability
kathleen.millen@seattlechildrens.org
206-884-3225
SCRI – CIBR 1900 Ninth Ave
Mailstop C9S-10
Seattle, WA 98101

Dr. Millen

Dr. Millen is interested in the genetic basis of early brain development, with particular focus on the developing cerebellum. Her lab uses the synergy of both human and mouse genetics to identify genes causing cerebellar malformations and define the underlying developmental processes necessary for normal development. They specifically use the cerebellum as a model for the rest of the brain, since the anatomical simplicity of the cerebellum enables their group to discover developmental mechanisms which are shared by more complex regions of the CNS, including the cerebral cortex. While Millen’s studies are of basic science interest, it is important to note that this work also has considerable clinical relevance. Specifically, malformations of the cerebellum are found in 1/5000 live human births and cause intellectual disabilities, autism, and motor deficiencies. Together with Millen’s colleague Bill Dobyns, they have identified the first genes causative for Dandy-Walker malformation, the most common human cerebellar malformation and testing for these genes is now included in standard clinical prenatal genetic analysis.


Dr. Millen's UW Pediatrics Division of Genetic Medicine web page

CHDD Outlook 2012 Issue#2- Using the Canary of the Mind to Find Genes Causing Brain Malformations


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