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.
Professional Career
Current Positions
| 2019-present | Clinical Director, Medical Research Council |
| 2018-present | Wellcome Principal Research Fellowship |
| 2015-present | Professor of Neurology, University of Cambridge |
| 2015-present | Head of Department, Clinical Neurosciences, University of Cambridge |
| 2012-present | Co-chair, NIHR Rare Disease Translational Research Collaboration |
Previous Positions
| 2014-2019 | Chair, MRC Neuroscience and Mental Health Board |
| 2010-2015 | Director, Institute of Genetic Medicine, Newcastle University |
| 2008-2015 | Director, Newcastle NIHR Biomedical Centre |
| 2010-2013 | Senior Public Orator, Newcastle University |
| 2007-2010 | Public Orator designate, Newcastle University |
| 2004-2015 | Professor of Neurogenetics, Newcastle University |
| 2004-2014 | Associate Editor, Brain |
| 2003-2018 | Wellcome Senior Fellow in Clinical Science |
Awards and Honours
| 2011 | The Foulkes Medal. Foulkes Foundation & Academy of Medical Sciences |
| 2010 | Senior Investigator National Institute for Health Research |
| 2009 | FMedSci Academy of Medical Sciences |
| 2007 | FRCPath Royal College of Pathologists UK |
| 2006 | FRCP Royal College of Physicians UK |
| 2002 | CCST in Neurology Specialist Training Authority |
| 2001 | MRCPath Royal College of Pathologists (Molecular Genetics) |
| 2000 | PhD University of Newcastle upon Tyne |
| 1995 | MRCP Royal College of Physicians UK |
| 1992 | MBBS (Hons) University of Newcastle upon Tyne |
| 1989 | BMedSci (1st) University of Newcastle upon Tyne |
Membership of Professional Societies
| 2011 | American Neurological Association |
| 2008 | Association of Physicians |
| 2001 | Royal College of Pathologists |
| 1995 | Royal College of Physicians |
| 2000 | Association of British Neurologists |
| 2000 | British Society for Human Genetics |
| 2006 | American Society for Human Genetics |