0 0 1 255 1458 Newcastle University 12 3 1710 14.0 Normal 0 false false false EN-US JA X-NONE
Mitochondrial disease affects approximately 1 in 7500 children and adults in the UK causing a broad spectrum of disease from fatal multisystem conditions through isolated cardiomyopathy to indolent eye movement disorders. I work as a paediatric neurologist and lead the Children’s Mitochondrial Disease Service in NUTH Hospitals Trust, one of only 3 nationally designated centres for the investigation and management of mitochondrial disease. Together with colleagues at Newcastle Fertility Centre I have also developed a Pre-implantation Genetic Diagnosis service for women carrying mitochondrial DNA mutations. My research, at the Wellcome Trust Centre for Mitochondrial Research, is closely aligned with the clinical service, encompassing both clinical and laboratory science. I am the chief investigator on the MRC Mitochondrial Disease Patient Cohort Study (UK); a natural history study of mitochondrial disease which has now recruited in excess of 1100 patients throughout the UK. I am also very interested in the molecular mechanisms of mitochondrial disease (with a view to identifying particular targets for therapy) and receive funding from two patient charities, The Lily Foundation and The Ryan Stanford Appeal, to undertake research in childhood onset mitochondrial diseases. I am currently supervising 4 PhD students (2 MRC funded) and collaborate with colleagues in the UK, Netherlands, Germany and the USA on a variety of research projects. I sit on the Scientific Advisory Board of the largest international mitochondrial disease charity, The United Mitochondrial Disease Foundation and represent the British Paediatric Neurology Association on the Multisystem Disease Clinical Reference Group.