Patrick Chinnery

Last updated

Professor
Patrick F. Chinnery
FRS
Born11 February 1968
Leeds, England
EducationSt Michaels College, Leeds, St Marys RC Comprehensive, Guiseley
Alma materNewcastle University (BMedSci, MBBS, PhD), Cambridge University (MA, DSc)
AwardsFoulkes Foundation Medal, 2011,

NIHR Senior Investigator, 2010,

Fellow of the Academy of Medical Sciences, 2009,

Association of British Neurologists, Charles Symonds Prize, 1997 & 2002

Worshipful Society of Apothecaries, Galen Medal, 2022

Contents

Website https://www.mrc-mbu.cam.ac.uk/research-groups/chinnery-group

Professor Patrick Francis Chinnery, FRCP, FRCPath, FMedSci, is a neurologist, clinician scientist, and Wellcome Trust Principal Research Fellow based in the Medical Research Council Mitochondrial Biology Unit and the University of Cambridge, where he is also Professor of Neurology and Head of the Department of Clinical Neurosciences. [1] [2] [3]

In 2023 he was appointed Executive Chair of the Medical Research Council. Other national roles include being co-chair of the National Institute for Health Research BioResource for Translational Research in Chronic and Rare Diseases. [4]

Early life and education

Chinnery attended Medical School at Newcastle University, where he graduated with a Bachelor of Medical Science degree in 1989 with first class honours; and Bachelor of Medicine, Bachelor of Surgery with honours in 1992. He went on to complete his PhD in mitochondrial genetics in 2000 whilst training in clinical neurology and neurogenetics. [5]

Medical career and research

Chinnery trained as a physician and neurologist in the north east of England, becoming a member of the Royal College of Physicians in 1995, and completing his specialist clinical training in neurology 2002 when he was appointed Honorary Consultant Neurologist at Newcastle upon Tyne Hospitals NHS Foundation Trust. He specializes in inherited disorders of the nervous system (neurogenetics) and established the north of England regional neurogenetics service between 2002 and 2015.

In 2015 he moved to the University of Cambridge as Professor of Neurology and Head of the Department of Clinical Neurosciences within the School of Clinical Medicine. He practices as a neurologist at Addenbrooke's Hospital. He became a Fellow of Gonville and Caius College in 2017 where he is Director of Studies in Clinical Medicine.

His research focuses on understanding the role of mitochondria in human disease. He has identified the genetic basis of several new diseases caused by genetic mutations affecting the genetic code within mitochondria (mtDNA) and the nuclear genome which code for mitochondrial proteins. In the first genetic epidemiology study he showed that mtDNA diseases were much more common than expected. [6] People with mtDNA diseases often harbour a mixture of normal and abnormal mtDNA (heteroplasmy). His group showed that most healthy people also carry heteroplasmic mtDNA mutations, but at very low levels. [7] They showed that a dramatic reduction in mtDNA levels within female germ cells during embryonic development leads to major shifts in heteroplasmy levels over one generation (the mitochondrial genetic bottleneck). [8] [9] The bottleneck explains how low level heteroplasmy in carriers can lead to mitochondrial diseases within one generation, and the different severity of mtDNA disease seen in siblings within the same family. Carrying out the first large-scale study in the UK 100,000 genomes project, he showed that the nuclear genetic background also influences the inheritance pattern of mtDNA mutations. [10] He also showed that genetic variation of mtDNA influences the risk of developing common diseases and many human physiological traits, including kidney and liver function. [11]

Throughout his career Chinnery harnessed genetics and genomics to deliver a fast, comprehensive diagnosis for families, [12] and led the pivotal multi-national clinical trial delivering the first licensed treatment for mitochondrial disease [13]

He has been supported by Wellcome Trust research fellowships since 1995, most recently as a Wellcome Principal Research Fellow. Additional research support has come from the Medical Research Council / UK Research and Innovation, and the National Institute for Health Research.  

Leadership

Chinnery was Director of the National Institute for Health Research (NIHR) Newcastle Biomedical Research Centre from 2008 to 2015, leading a doubling of funding. Since 2012 he has been co-chair of the NIHR Rare Diseases Translational Research Collaboration, then the NIHR BioResource with John Bradley. [14]

In 2010 he was appointed Director of the Institute of Genetic Medicine at Newcastle University. In 2015 he moved to the University of Cambridge as Professor of Neurology and Head of the Department of Clinical Neurosciences. [15]

In 2018 he became Clinical Director of the Medical Research Council within UK Research and Innovation, where is he was responsible for clinical translational research programmes.

He has advised to two UK Government Chief Medical Advisors, [16] and ministers and Secretaries of State within the Department of Health and Social Care and the Department of Business Energy and Industrial Strategy.  In 2020 he was appointed National Core Study Lead for COVID-19 therapeutics by the UK Government Chief Scientific Advisor Sir Patrick Vallance. [17] In 2020 he was asked by UK Government Chief Medical Advisor Professor Chris Whitty to established and chair the UK COVID-19 Therapeutics Advisory Panel (UK-CTAP) which recommended drugs into the UK national clinical trial platforms. [18]

Awards and honors

Chinnery was awarded several prizes as a training neurologist and researcher, twice being awarded the Charles Symonds Prize by the Association of British Neurologists (1997, 2002). In 2009 he was the youngest elected member of the Academy of Medical Sciences, who awarded him the Foulkes Foundation Medal in 2011. [19]   He has been a Fellow of the Royal College of Physicians since 2006, and a Fellow of the Royal College of Pathologists since 2007. In 2010 he became a NIHR Senior Investigator (now emeritus), and is a corresponding member of the American Neurological Association. [20] In 2022 he was awarded the Galen Medal by the Worshipful Society of Apothecaries. [21]

Personal life

Married to Rachel Chinnery (m.1991) with 4 children: 3 daughters and one son. He also has 1 Labrador named Ralph. [ citation needed ]

Related Research Articles

Anita Elizabeth Harding was an Irish-British neurologist, and Professor of Clinical Neurology at the Institute of Neurology of the University of London. She is known for the discovery with Ian Holt and John Morgan-Hughes of the "first identification of a mitochondrial DNA mutation in human disease and the concept of tissue heteroplasmy of mutant mitochondrial DNA", published in Nature in 1986. In 1985 she established the first neurogenetics research group in the United Kingdom at the UCL Institute of Neurology.

<span class="mw-page-title-main">Mitochondrial disease</span> Spontaneously occurring or inherited disorder that involves mitochondrial dysfunction

Mitochondrial disease is a group of disorders caused by mitochondrial dysfunction. Mitochondria are the organelles that generate energy for the cell and are found in every cell of the human body except red blood cells. They convert the energy of food molecules into the ATP that powers most cell functions.

<span class="mw-page-title-main">Leigh syndrome</span> Mitochondrial metabolism disease characterized by progressive loss of mental and movement abilities

Leigh syndrome is an inherited neurometabolic disorder that affects the central nervous system. It is named after Archibald Denis Leigh, a British neuropsychiatrist who first described the condition in 1951. Normal levels of thiamine, thiamine monophosphate, and thiamine diphosphate are commonly found, but there is a reduced or absent level of thiamine triphosphate. This is thought to be caused by a blockage in the enzyme thiamine-diphosphate kinase, and therefore treatment in some patients would be to take thiamine triphosphate daily. While the majority of patients typically exhibit symptoms between the ages of 3 and 12 months, instances of adult onset have also been documented.

<span class="mw-page-title-main">Medical Research Council (United Kingdom)</span> National medical research agency

The Medical Research Council (MRC) is responsible for co-coordinating and funding medical research in the United Kingdom. It is part of United Kingdom Research and Innovation (UKRI), which came into operation 1 April 2018, and brings together the UK's seven research councils, Innovate UK and Research England. UK Research and Innovation is answerable to, although politically independent from, the Department for Business, Energy and Industrial Strategy.

Heteroplasmy is the presence of more than one type of organellar genome within a cell or individual. It is an important factor in considering the severity of mitochondrial diseases. Because most eukaryotic cells contain many hundreds of mitochondria with hundreds of copies of mitochondrial DNA, it is common for mutations to affect only some mitochondria, leaving most unaffected.

<span class="mw-page-title-main">Homoplasmy</span> Identity of organellar DNA sequences in a cell

Homoplasmy is a term used in genetics to describe a eukaryotic cell whose copies of mitochondrial DNA are all identical. In normal and healthy tissues, all cells are homoplasmic. Homoplasmic mitochondrial DNA copies may be normal or mutated; however, most mutations are heteroplasmic. It has been discovered, though, that homoplasmic mitochondrial DNA mutations may be found in human tumors.

<span class="mw-page-title-main">Human mitochondrial genetics</span> Study of the human mitochondrial genome

Human mitochondrial genetics is the study of the genetics of human mitochondrial DNA. The human mitochondrial genome is the entirety of hereditary information contained in human mitochondria. Mitochondria are small structures in cells that generate energy for the cell to use, and are hence referred to as the "powerhouses" of the cell.

<span class="mw-page-title-main">MERRF syndrome</span> Medical condition

MERRF syndrome is a mitochondrial disease. It is extremely rare, and has varying degrees of expressivity owing to heteroplasmy. MERRF syndrome affects different parts of the body, particularly the muscles and nervous system. The signs and symptoms of this disorder appear at an early age, generally childhood or adolescence. The causes of MERRF syndrome are difficult to determine, but because it is a mitochondrial disorder, it can be caused by the mutation of nuclear DNA or mitochondrial DNA. The classification of this disease varies from patient to patient, since many individuals do not fall into one specific disease category. The primary features displayed on a person with MERRF include myoclonus, seizures, cerebellar ataxia, myopathy, and ragged red fibers (RRF) on muscle biopsy, leading to the disease's name. Secondary features include dementia, optic atrophy, bilateral deafness, peripheral neuropathy, spasticity, or multiple lipomata. Mitochondrial disorders, including MERRFS, may present at any age.

<span class="mw-page-title-main">MT-ND6</span> Mitochondrial gene coding for a protein involved in the respiratory chain

MT-ND6 is a gene of the mitochondrial genome coding for the NADH-ubiquinone oxidoreductase chain 6 protein (ND6). The ND6 protein is a subunit of NADH dehydrogenase (ubiquinone), which is located in the mitochondrial inner membrane and is the largest of the five complexes of the electron transport chain. Variations in the human MT-ND6 gene are associated with Leigh's syndrome, Leber's hereditary optic neuropathy (LHON) and dystonia.

Mitochondrially encoded tRNA leucine 1 (UUA/G) also known as MT-TL1 is a transfer RNA which in humans is encoded by the mitochondrial MT-TL1 gene.

<span class="mw-page-title-main">Cytochrome c oxidase subunit 2</span> Enzyme of the respiratory chain encoded by the mitochondrial genome

Cytochrome c oxidase II is a protein in eukaryotes that is encoded by the MT-CO2 gene. Cytochrome c oxidase subunit II, abbreviated COXII, COX2, COII, or MT-CO2, is the second subunit of cytochrome c oxidase. It is also one of the three mitochondrial DNA (mtDNA) encoded subunits of respiratory complex IV.

<span class="mw-page-title-main">Twinkle (protein)</span> Human mitochondrial protein

Twinkle protein also known as twinkle mtDNA helicase is a mitochondrial protein that in humans is encoded by the TWNK gene located in the long arm of chromosome 10 (10q24.31).

<span class="mw-page-title-main">Neurogenetics</span> Study of role of genetics in the nervous system

Neurogenetics studies the role of genetics in the development and function of the nervous system. It considers neural characteristics as phenotypes, and is mainly based on the observation that the nervous systems of individuals, even of those belonging to the same species, may not be identical. As the name implies, it draws aspects from both the studies of neuroscience and genetics, focusing in particular how the genetic code an organism carries affects its expressed traits. Mutations in this genetic sequence can have a wide range of effects on the quality of life of the individual. Neurological diseases, behavior and personality are all studied in the context of neurogenetics. The field of neurogenetics emerged in the mid to late 20th century with advances closely following advancements made in available technology. Currently, neurogenetics is the center of much research utilizing cutting edge techniques.

Mitochondrially encoded tRNA threonine also known as MT-TT is a transfer RNA which in humans is encoded by the mitochondrial MT-TT gene.

<span class="mw-page-title-main">Mitochondrial DNA depletion syndrome</span> Medical condition

Mitochondrial DNA depletion syndrome, or Alper's disease, is any of a group of autosomal recessive disorders that cause a significant drop in mitochondrial DNA in affected tissues. Symptoms can be any combination of myopathic, hepatopathic, or encephalomyopathic. These syndromes affect tissue in the muscle, liver, or both the muscle and brain, respectively. The condition is typically fatal in infancy and early childhood, though some have survived to their teenage years with the myopathic variant and some have survived into adulthood with the SUCLA2 encephalomyopathic variant. There is currently no curative treatment for any form of MDDS, though some preliminary treatments have shown a reduction in symptoms.

Mitochondrial optic neuropathies are a heterogenous group of disorders that present with visual disturbances resultant from mitochondrial dysfunction within the anatomy of the Retinal Ganglion Cells (RGC), optic nerve, optic chiasm, and optic tract. These disturbances are multifactorial, their aetiology consisting of metabolic and/or structural damage as a consequence of genetic mutations, environmental stressors, or both. The three most common neuro-ophthalmic abnormalities seen in mitochondrial disorders are bilateral optic neuropathy, ophthalmoplegia with ptosis, and pigmentary retinopathy.

Michael G Hanna is Director of the UCL Institute of Neurology, University College London and professor in clinical neurology and consultant neurologist at the National Hospital for Neurology and Neurosurgery, Queen Square, London, and also Director of the Medical Research Council (MRC) Centre for Neuromuscular Disease.

Sir Douglass Matthew Turnbull is Professor of Neurology at Newcastle University, an Honorary Consultant Neurologist at Newcastle upon Tyne Hospitals NHS Foundation Trust and a director of the Wellcome Trust Centre for Mitochondrial Research.

<span class="mw-page-title-main">Robert K. Naviaux</span> American scientist

Robert K. Naviaux is an American physician-scientist who specializes in mitochondrial medicine and complex chronic disorders. He discovered the cause of Alpers syndrome, and was part of the team that reported the first mitochondrial DNA (mtDNA) mutation to cause genetic forms of autism. Naviaux proposed the cell danger response (CDR) and hyperpurinergia hypothesis for complex disorders in 2014 and directed the first FDA-approved clinical trial to study the safety and efficacy of the antipurinergic drug suramin as a new treatment for autism spectrum disorder (ASD).

Rita Horvath is a Hungarian neurologist and researcher. She completed her PhD on mitochondrial disease and research in Munich from 1999 to 2007.

References

  1. ↑ "Patrick Chinnery | MRC Mitochondrial Biology Unit". www.mrc-mbu.cam.ac.uk. Retrieved 1 August 2021.
  2. ↑ sz360@cam.ac.uk (23 March 2018). "Professor Patrick F. Chinnery, FMedSci — Cambridge Centre for Parkinson-Plus". ccpp.cam.ac.uk. Retrieved 1 August 2021.{{cite web}}: CS1 maint: numeric names: authors list (link)
  3. ↑ "Home". www.gmc-uk.org. Retrieved 1 August 2021.
  4. ↑ "MRC appoints neurologist as clinical director". Research Professional News. 27 February 2019. Retrieved 1 August 2021.
  5. ↑ "Patrick Chinnery | MRC Mitochondrial Biology Unit". www.mrc-mbu.cam.ac.uk. Retrieved 1 August 2021.
  6. ↑ Chinnery, P. F.; Johnson, M. A.; Wardell, T. M.; Singh-Kler, R.; Hayes, C.; Brown, D. T.; Taylor, R. W.; Bindoff, L. A.; Turnbull, D. M. (August 2000). <188::aid-ana8>3.0.co;2-p "The epidemiology of pathogenic mitochondrial DNA mutations". Annals of Neurology. 48 (2): 188–193. doi:10.1002/1531-8249(200008)48:2<188::aid-ana8>3.0.co;2-p. ISSN   0364-5134. PMID   10939569. S2CID   38326060.
  7. ↑ Payne, B. A. I.; Wilson, I. J.; Yu-Wai-Man, P.; Coxhead, J.; Deehan, D.; Horvath, R.; Taylor, R. W.; Samuels, D. C.; Santibanez-Koref, M.; Chinnery, P. F. (16 October 2012). "Universal heteroplasmy of human mitochondrial DNA". Human Molecular Genetics. 22 (2): 384–390. doi:10.1093/hmg/dds435. ISSN   0964-6906. PMC   3526165 . PMID   23077218.
  8. ↑ Cree, Lynsey M; Samuels, David C; de Sousa Lopes, Susana Chuva; Rajasimha, Harsha Karur; Wonnapinij, Passorn; Mann, Jeffrey R; Dahl, Hans-Henrik M; Chinnery, Patrick F (27 January 2008). "A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes". Nature Genetics. 40 (2): 249–254. doi:10.1038/ng.2007.63. ISSN   1061-4036. PMID   18223651. S2CID   205344980.
  9. ↑ Floros, Vasileios I.; Pyle, Angela; Dietmann, Sabine; Wei, Wei; Tang, Walfred C. W.; Irie, Naoko; Payne, Brendan; Capalbo, Antonio; Noli, Laila; Coxhead, Jonathan; Hudson, Gavin (15 January 2018). "Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos". Nature Cell Biology. 20 (2): 144–151. doi:10.1038/s41556-017-0017-8. ISSN   1465-7392. PMC   6551220 . PMID   29335530.
  10. ↑ Zahn, Laura M. (23 May 2019). "Heteroplasmy incidence in mitochondrial DNA". Science. 364 (6442): 746.11–748. Bibcode:2019Sci...364..746Z. doi:10.1126/science.364.6442.746-k. ISSN   0036-8075. S2CID   182457179.
  11. ↑ Yonova-Doing, Ekaterina; Calabrese, Claudia; Gomez-Duran, Aurora; Schon, Katherine; Wei, Wei; Karthikeyan, Savita; Chinnery, Patrick F.; Howson, Joanna M. M. (17 May 2021). "An atlas of mitochondrial DNA genotype–phenotype associations in the UK Biobank". Nature Genetics. 53 (7): 982–993. doi:10.1038/s41588-021-00868-1. ISSN   1061-4036. PMC   7611844 . PMID   34002094. S2CID   234768578.
  12. ↑ Taylor, Robert W.; Pyle, Angela; Griffin, Helen; Blakely, Emma L.; Duff, Jennifer; He, Langping; Smertenko, Tania; Alston, Charlotte L.; Neeve, Vivienne C.; Best, Andrew; Yarham, John W.; Kirschner, Janbernd; Schara, Ulrike; Talim, Beril; Topaloglu, Haluk; Baric, Ivo; Holinski-Feder, Elke; Abicht, Angela; Czermin, Birgit; Kleinle, Stephanie; Morris, Andrew A. M.; Vassallo, Grace; Gorman, Grainne S.; Ramesh, Venkateswaran; Turnbull, Douglass M.; Santibanez-Koref, Mauro; McFarland, Robert; Horvath, Rita; Chinnery, Patrick F. (2014). "Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies". JAMA. 312 (1): 68–77. doi:10.1001/jama.2014.7184. PMC   6558267 . PMID   25058219.
  13. ↑ Klopstock, Thomas; Yu-Wai-Man, Patrick; Dimitriadis, Konstantinos; Rouleau, Jacinthe; Heck, Suzette; Bailie, Maura; Atawan, Alaa; Chattopadhyay, Sandip; Schubert, Marion; Garip, Aylin; Kernt, Marcus (23 July 2011). "A randomized placebo-controlled trial of idebenone in Leber's hereditary optic neuropathy". Brain. 134 (9): 2677–2686. doi:10.1093/brain/awr170. ISSN   1460-2156. PMC   3170530 . PMID   21788663.
  14. ↑ "BioResource results among ten key advances". bioresource.nihr.ac.uk. Retrieved 1 August 2021.
  15. ↑ ORCID. "Patrick Chinnery (0000-0002-7065-6617)". orcid.org. Retrieved 1 August 2021.
  16. ↑ "Chief Medical Officer annual report 2016: generation genome". GOV.UK. Retrieved 1 August 2021.
  17. ↑ "The National Core Studies programme". GOV.UK. Retrieved 1 August 2021.
  18. ↑ "Guidance: making a proposal for COVID-19 therapeutics clinical trials". GOV.UK. Retrieved 1 August 2021.
  19. ↑ "The Foulkes Foundation Academy of Medical Sciences Medal | The Academy of Medical Sciences". acmedsci.ac.uk. Retrieved 1 August 2021.
  20. ↑ "Senior Investigators". si.gmg-is.co.uk. Retrieved 1 August 2021.
  21. ↑ "Faculty Focus". si.gmg-is.co.uk.
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