Patrick Chinnery

From Wikipedia, the free encyclopedia

Professor
Patrick F. Chinnery
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
Websitehttps://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[edit]

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[edit]

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[edit]

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[edit]

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[edit]

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

References[edit]

  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.