I am interested in the pathogenetic mechanisms of mitochondrial disease in children and adults. MRC funding has allowed me to develop a large national cohort of patients with mitochondrial disease which is already helping to answer some fundamental clinical research questions. I am collaborating with research colleagues in USA, Finland, Australia, Germany, Japan, Italy and the Netherlands to develop an international database to facilitate clinical trials. I maintain a keen interest in laboratory research and have projects investigating mt-tRNA biology and the neuropathological mechanisms of Alpers-Huttenlocher Syndrome. I work closely with colleagues in the Mitochondrial Diagnostic Service to translate research findings into benefit for patients and this has resulted in the establishment of both a prenatal diagnostic service and (together with colleagues at the Newcastle Fertility Centre) a Preimplantation Genetic Diagnosis Service for mtDNA disease.