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MRC Mitochondrial Biology Unit


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