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 Œdouble cortex¹/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.
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