Dr Gabrielle Wheway
Lecturer in Functional Genomics
Faculty of Medicine
University of Southampton
My interest is in the genetics and cell biology underlying ciliopathies, focussing on the genes and proteins mutated in conditions at the extreme ends of the ciliopathy spectrum; the multi-organ perinatal lethal Meckel-Gruber syndrome and; Lebers Congenital Amaurosis and Retinitis Pigmentosa, which have a phenotype restricted to the eye. I am particularly interested in the application of high-throughput approaches to studying gene functions, and the contribution of genetic variants to ciliopathies.