Biography
Personal Biography
Following a Bachelors degree in Neuroscience I qualified in medicine in 1992 at the University of Newcastle upon Tyne. After three years of general medical training as a junior doctor in Newcastle Hospitals, I studied for a PhD as a Wellcome Trust Clinical Research Training Fellow investigating the molecular basis of mitochondrial diseases. Following this I combined a Postdoctoral Research Fellowship from the Wellcome Trust with clinical training in neurology and genetics in Newcastle and neurogenetics at Queen Square in London. I was appointed Lecturer and then Senior Lecturer in Newcastle in 2002 before becoming Professor of Neurogenetics at Newcastle University in 2004. In 2003 I became a Wellcome Trust Senior Fellow in Clinical Science (renewed 2018 & 2013).
I became a Fellow of the Academy of Medical Sciences in 2009, and an NIHR Senior Investigator in 2010. In 2011 I was elected a Fellow of the American Neurological Association, and was awarded the Foulkes Foundation Medal by the Academy of Medical Sciences. I was Director of the NIHR Newcastle Biomedical Research Centre (2008-2015), and Director of the Institute of Genetic Medicine at Newcastle University (2010-2015). In 2015 I moved to the University of Cambridge as Professor of Neurology and Head of the Department of Clinical Neurosciences. I jointly chair the NIHR Rare Diseases Translational Research Collaboration (2012), and am Acting Chair of the MRC Neurosciences and Mental Health Board (2015).
Research Biography
I began my research studying the relationship of mitochondrial DNA and human disease in 1995 and became interested in the mechanisms of mitochondrial inheritance. My research has involved the identification of mitochondrial and nuclear gene defects responsible for mitochondrial disorders, dissecting out the downstream disease mechanisms, and studying the molecular and cellular basis of mitochondrial DNA inheritance - most recently through the UK 100,000 Genomes Project. I have an active clinical translational research programme studying the natural history of mitochondrial diseases linked to the development of new treatments, and an interest in the role of mitochondrial mechanisms in common diseases, and particularly neurodegenerative disorders.
Publications
Please see my google scholar profile for a full publication list.