Yale School of Medicine


Louvi Research, Neurosurgery

Williamson Research, Neurosurgery

P.O., Box 208082
New Haven, CT 06520-8082
Tel: 203.785.2805
Fax: 203.785.6916

Cerebral Malformations in Developmental Structural Brain Disorders

Fig. 4: Representative MR images of patients with developmental structural brain disorders. A. Frontal agyria). B. Microcephaly with cerebellar and brain stem hypoplasia C. Occipital agyria D. Bilateral lissencephaly spectrum disorder

In collaboration with Dr. Matthew State, I co-direct the Yale Program on Neurogenetics. Our major focus is the identification of genes important in human brain development through the study of disorders affecting both brain structure (neuronal migration, organization and proliferation diseases) and function (mental retardation, pervasive developmental disorders including autism, and developmental neuropsychiatric disorders) (Fig. 4). My major thrust is the former areas and, via our international collaborations, we have now collected nearly 500 DNA samples from consanguineous families presenting with gross structural findings, likely representing one of the largest such collections in the world. We are now in the process of extending this sample collection and genotyping patients with high-density SNP arrays in an effort to clone novel genes. We have also developed some particularly exciting collaborations, for example with Tian Xu, in which we will integrate our respective efforts in human and mouse genetics.

This work is funded by the Yale Neurogenetics Program.