My core research interest is the application of population genetics and computational methods to the understanding of disease associated with Mitochondrial DNA (mtDNA) variation.
MtDNA is passed from mother to offspring. It has a high mutation rate with mutations of mtDNA being an important cause of inherited disease and many believing that some population variants are associated with complex disease.
Around 1/6000 of the population suffer from a clinically manifesting syndrome resulting from a mutation of mtDNA. I have published widely on identification of the mutations causing these syndromes, and the course of disease in patients. The other main theme of my research is the role of mtDNA variants in complex disease. I have been involved in studies looking at a number of phenotypes including, Alzheimer's disease, Parkinson's disease Multiple sclerosis, type 2 diabetes and Sepsis.