My interest is in translating research findings to the application of disease diagnostics and in developing tools and implementing new technology to improve the diagnosis of human genetic disease. A main area of interest is orphan genetic disease with a focus on neurodevelopmental disorders. As new disease genes are identified we work to implement testing for these disorders using state-of-the-art technologies to develop comprehensive mutation analysis. Our mutation studies feed into genotype-phenotype correlation studies that are important for better understanding of the molecular basis of these disorders.
M.Sc. University of Glasgow, UK 1987
Ph.D. University College London, UK 1991
ACMG board-certified Molecular Geneticist