Kathleen J. Millen, PhD
Academic Title: Professor
Research Title: Principal Investigator
"As an undergraduate student, I fell in love with developmental biology while watching a fertilized worm egg divide and turn into a complex embryo in real time, under a microscope. From that day forward, Ive marveled at the complex symphony of biological events that create each one of us. Studying brain birth defects provides me with the ability to study the basic mechanisms of developmental biology while also having an impact on the clinical care of affected individuals and their families."
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.
- Medical/Professional School
University of Toronto, Toronto
The Rockefeller University, New York
- Research Description
Our research program seeks to explore the molecular genetic pathways and cellular processes which determine how the developing vertebrate Central Nervous System (CNS) acquires pattern during early neurogenesis. We primarily focus on congenital malformations of the cerebellum and has implications for the genetic basis of mental retardation and autism. Our approach is to combine the power and strengths of both mouse and human genetics with embryological analysis in mice and other model vertebrates, to identify the molecular and cellular events that regulate cerebellar development.
We have identified the first genes for Dandy-Walker malformation, the most common structural defect of the cerebellum affecting 1/5000 births and causing significant intellectual and motor delays. Using mice to model these defects we have defined the developmental basis of the pathology and gained new insights regarding novel mechanisms of CNS development. Concurrenlty we are studying multiple mouse mutants with abnormal cerebellar development to gain insights into the fundamental developmental programs that drive cerebellar cell fate specification and patterning.
- Research Focus Area
Stem Cell Biology, Neuroscience / Neurodevelopment, Genetics and Developmental Biology