Patrick Chinnery

Patrick Chinnery

Programme Leader

Mitochondrial genomics and human diseases

Mitochondrial disorders affect approximately 1 in 4300 of the population and cause progressive, incurable diseases that often result in premature death. The primary genetic defect affects either nuclear DNA or mitochondrial DNA (mtDNA), and ultimately leads to a biochemical defect of ATP synthesis. However, despite having the same basic biochemical basis, mitochondrial disorders have an enormously variable clinical presentation and disease course.

My laboratory aims to determine the major nuclear and mitochondrial genetic factors that modulate the clinical expression of mitochondrial disorders, thus explaining the variable phenotype.  Specifically, we are working to (i) define the sub-cellular mechanism responsible for the mtDNA genetic bottleneck during female germ cell development (ii) characterise novel nuclear gene defects in patients with Mendelian mitochondrial disorders (iii) define critical nuclear-mtDNA interactions through the investigation of homoplasmic mtDNA diseases

These three laboratory research themes dove tail into a clinical translational research programme studying the natural history of mitochondrial disease, and developing new treatments through investigator-led experimental medicine studies and clinical trials in partnership with the pharmaceutical industry.

 

Group Members

Post-docs

  • Juvid Aryaman
  • Heather Biggs
  • Stephen Burr
  • Claudia Calabrese
  • Michele Frison
  • Aurora Gomez-Duran
  • Amanda Lopes
  • Nell Nie
  • Mikael Pezet
  • David Prole
  • Wei Wei
  • Haixin Zhang

Post-graduate students

  • Iacopo Bicci
  • Sulekha Nair

Visitors

  • Katherine Schon

Publications

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.

Awards & 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

Current positions

2015 - present
Professor of Neurology, University of Cambridge
2015 - present
Head of Department, Clinical Neurosciences, University of Cambridge
2014 - present
Deputy Chair, MRC Neuroscience and Mental Health Board (Acting Chair, 2015)
2012 - present
Co-chair, NIHR Rare Disease Translational Research Collaboration
2003 - present
Wellcome Trust Senior Fellow in Clinical Science (2nd renewal)

Previous positions

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

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