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How do genes guide brain development and, in turn, our behavior? This question fascinates HHMI investigator and physician-scientist Christopher A. Walsh, whose Harvard lab studies the cerebral cortex, the thin layer of gray matter that controls complex thoughts and motor functions. Despite his active research program, Walsh makes time to spend with patients and their families. These interactions often guide his research—and increase his drive to do all he can to help.
HHMI: WHAT TYPES OF PATIENTS DO YOU SEE?
CAW: In our pediatric and adult clinics, we see patients with brain abnormalities and their families. Many of these conditions are genetic. For example, in periventricular heterotopia (PH), clusters of brain cells remain near the ventricles (the fluid-filled spaces deep in the brain) instead of migrating out to the cerebral cortex. Another condition is lissencephaly, which means "smooth brain." Instead of having a normal folding pattern, the cortex is smoother and thicker.
HHMI: YOU COLLABORATE WITH PHYSICIANS IN TURKEY AND ARABIC COUNTRIES OF THE PERSIAN GULF. WHY THOSE COUNTRIES IN PARTICULAR?
CAW: These are rare genetic neurological diseases. Prevalence varies from about 1 in 10,000 to 1 in 100,000 people worldwide. Based on referrals from their local doctors—often, in Canada, England, and France—we usually see here in Boston only about a half-dozen patients per month. So we also visit pediatric clinics in Turkey, Dubai, and nearby countries because in these regions, people tend to have large families and about half of the marriages are between first cousins. Together, these two factors make recessive genetic disorders easier to study.
Photo: Jason Grow
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