Director, Molecular Diagnostic Laboratory

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