Professor Patrick Chinnery FRCP FMedSci
- College positions:
Jeffrey Cheah Professorial FellowDirector of Studies in Clinical Medicine
- University positions:
Professor of NeurologyWellcome Trust Principal Research Fellow
- Subjects: Medicine
BMedSci (Hons) in Neuroscience (Newcastle); MBBS (Hons) in Medicine and Surgery (Newcastle); PhD in Molecular Genetics (Newcastle); DSc (Cambridge)
Awards and Prizes
Charles L. Hoppel prize for Outstanding Contributions in Mitochondrial Research (2023)
Galen Medal. Worshipful Society of Apothecaries of London (2022)
XIIIth Oon Award for Preventative Medicine. Downing College Cambridge (2022)
Fellow of the American Neurological Association (2011)
Foulkes Foundation Medal (Academy of Medical Sciences) (2011)
National Institute for Health Research Senior Investigator (2010)
Fellow of Academy of Medical Sciences (2009)
Fellow of the Royal College of Pathologists (2007)
Fellow of the Royal College of Physicians (2006)
I am a practising clinical neurologist at Addenbrooke’s Hospital with an interest in genetic disorders of the nervous system, and particularly those caused by mitochondrial dysfunction.
Mitochondria are the main source of energy within cells, and mitochondrial dysfunction causes progressive, incurable diseases that often shorten life.
Mitochondrial diseases are caused by mutations affecting genes in the cell nucleus or genes in the mitochondrion (mitochondrial DNA) which cause a biochemical defect of adenosine triphosphate (ATP) synthesis. However, despite having the same basic biochemical basis, mitochondrial disorders have an enormously variable clinical presentation and disease course. The reasons for this are not well understood.
My research group is based in the MRC Mitochondrial Biology Unit on the Biomedical Campus. We aim to determine the major nuclear and mitochondrial genetic factors that are responsible for the clinical problems faced by families affected by mitochondrial disorders, and to use this knowledge to develop new treatments through investigator-led experimental medicine studies and clinical trials.
Burr SP, Florian Klimm F, Glynos A, Malwina Prater M, Sendon P, Nash P, Powell CA, Simard M-L, Bonekamp NA, Charl J, Hector Diaz H, Bozhilova LV, Nie Y, Zhang H, Frison M, Falkenberg M, Jones N, Minczuk M, Stewart JB, Chinnery PF. Cell lineage specific mitochondrial resilience during mammalian organogenesis. Cell 2023;186(6):1212-1229.e21. PMID: 36827974
Wei W, Schon K, Elgar G, Orioli A, Tanguy M, Giess A, Tischkowitz M, Caulfield M, Chinnery PF. Nuclear-embedded mitochondrial DNA sequences in 66,083 human genomes. Nature 2022:611(7934):105-114. PMID: 36198798
Schon KR, Horvath R, Wei W, Calabrese C, Tucci A, Ibañez K, Ratnaike T, Pitceathly RDS, Bugiardini E, Quinlivan R, Hanna MG, Clement E, Ashton E, Sayer JA, Paul Brennan P, Josifova D, Izatt L, Fratter C, Nesbitt V, Timothy Barrett T, McMullen DJ, Smith S, Deshpande C, Smithson SF, Festenstein R, Canham N, Genomics England Research Consortium, Caulfield M, Houlden H, Rahman S, Neurology and Mitochondrial Disorders Genomics England Clinical Interpretation Partnership, Chinnery PF. Use of whole genome sequencing to determine the genetic basis of suspected mitochondrial disorders: a cohort study. British Medical Journal 2021;375:e066288. PMID: 34732400
Wei W, Tuna S, Keogh MJ, Smith KR, Aitman TJ, Beales PL, Bennett DL, Gale DP, Bitner-Glindzicz MAK, Black GC, Brennan P, Elliott P, Flinter FA, Floto RA, Houlden H, Irving M, Koziell A, Maher ER, Markus HS, Morrell N, Newman WG, Roberts I, Sayer JA, Smith KGC, Taylor JC, Watkins H, Webster AR, Wilkie AO, Williamson C, on behalf of the NIHR BioResource - Rare Diseases and the 100,000 Genomes Project - Rare Diseases Pilot, Ashford S, Penkett CJ, Stirrups KE, Rendon A, Ouwehand WH, Bradley JR, Raymond FL, Caulfield M, Turro E, Chinnery PF. Germline selection shapes human mitochondrial DNA diversity. Science 2019 May 24;364(6442). PMID: 31123110.
Floros VI, Pyle A, Dietmann S, Wei W, Tang WWC, Irie N, Payne BAI, Capalbo A, Noli L, Coxhead J, Hudson G, Crosier M,Strahl H, Khalaf Y, Saitou M, Ilic D, Surani MA, Chinnery PF. Segregation of mitochondrial DNA heteroplasmy through a development genetic bottleneck in human embryos. Nature Cell Biology 2018 Feb;20(2):144-151. PMID: 29335530 Also see: News and Views, Nature Cell Biology 2018;20:118-126