We are interested in genes that regulate the development and function of the human cerebral cortex. Mutations in these genes cause autism and epilepsy as well as mental retardation and other learning disorders. Not only are these genes vital to the normal development of the cortex but also many appear to have been altered evolutionarily to allow the unique aspects of the brain that underlie human cognitive abilities. We collaborate with physicians all over the world often in areas such as the Middle East where large family sizes and unique populations are more favorable for genetic analysis.
Sheen VL, Ganesh VS, Topcu MC, Sebire G, Bodell A, Hill RS, Grant PE, Shugart YY, Imitola J, Khoury SJ, Guerrini R, Walsh CA.: Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Nature Genetics 2003.
Chang S, Piao X, Bodell A, Basel-Vanagaite L, Straussberg R, Dobyns WB, Qasrawi B, Winter RM, Innes AM, Voit T, Grant PE, Barkovich AJ, Walsh CA. Bilateral frontoparietal polymicrogyria clinical and radiological features in 10 families with linkage to chromosome16. Ann Neurol. 2003 53 596-606.
RajabA, Mochida GH, Hill A, Ganesh V, Bodell A, Riaz A, Grant PE, Shugart YY, Walsh CA.
A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21.
Neurology 2003. 60: 1664-1667.
Piao X, Basel-Vanagaite L, Straussberg R, Grant PE, Pugh EW, Doheny K, Doan B, Hong SE, Shugart YY, Walsh CA. An autosomal recessive form of bilateral frontal polymicrogyria maps to chromosome 16q12.2-21.
Am J. Hum. Gen. 70: 1028-1033.
Chenn A and Walsh CA.
Regulation of cerebral cortical size by control of cell cycle exit in neural precursors.
Science 2002. 297:365-369.
External Recognition:
Howard Hughes Medical Institute Investigator 2002
Jacob Javitts Neuroscience Award
Editorial Boards: Science; Neuron; Neuroscience; Trends in Neuroscience;
Scientific Program Committee: American Neurological Association; 2001-
Scientific Program Committee; Society for Neuroscience 2002-1999
Derek Denny-Brown Outstanding Investigator Award; American Neurological Association 2001
Dreifuss-Penry Award for Outstanding Epilepsy Research; American Academy of Neurology
