平特五不中

My resesarch focuses on congenital brain malformations, which are usually the result of disruption during fetal development. Affected children can have important neurologic impairments, such as motor deficits, learning impairments and epilepsy. Though a genetic etiology is often suspected, the responsible gene is rarely identified. I study the genetic causes of congenital brain malformations using novel sequencing technologies. My lab is particularly interested in schizencephaly, which is a brain abnormality characterized by an abnormal "split" in the brain, on structural disorders of the cerebellum, which is the area of the brain mainy responsible for coordination, and on focal cortical dyplasias, which are groups of disorganized and abnormal cells in the brain that are the major cause of severe epilepsy. My aim is to identify the genes responsible for these disorders, in order to shed light on the underlying mechanism, improve clinical care and genetic counseling, and ultimately develop novel treatments and specific therapies.