Kathleen J. Millen, PhD, is an professor of pediatrics at the University of Washington School of Medicine. She is also a Principal Investigator at the Seattle Childrens Hospital Research Institute, Center for Integrative Brain Research. Her research laboratory focuses on the genetic basis of early brain development mental retardation, autism and hydrocephalus.
In particular, her lab uses the synergy of both human and mouse genetics to identify genes causing cerebellar malformations and then defines the underlying developmental processes necessary for normal development. Although her studies are of basic science interest, they also have considerable clinical relevance. Specifically, her group identified the first genes for human Dandy-Walker malformation, the most common structural defect of the cerebellum affecting 1/5000 births and often causing significant intellectual and motor delays. Concurrently she is also studying multiple mouse mutants with abnormal cerebellar development to gain insights into the fundamental developmental programs that drive brain cell fate specification and patterning. These studies in turn provide new candidate genes for human developmental brain disorders.