Our laboratory investigates the genetic and molecular aspects of cerebral cortex development. The development of cortex is genetically complex, as evidenced by the fact that nearly half of all known genes are expressed in the cortex. However, single gene defects usually produce a specific phenotype on brain MRI, thus providing an ideal genetic system in order to identify genes critical for proper functioning.
We have identified several genes that are essential for proper development and function of the cerebral cortex. In double cortex/lissencephaly, young neurons do not complete their migration to the cortex; as a result patients display mental retardation and epilepsy. The mutant gene in this disorder is doublecortin, encoding a new kind of microtubule associated protein. Our lab studies the function of these genes, as well as identifying new genes essential for the development and function of the cerebral cortex.