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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.
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