Institute of Genetic Medicine

Staff Profile

Dr Joanna Elson


B.Sc. Hons in Genetics (2:1), University College London, 1995-1998

PhD in Mitochondrial Genetics, Newcastle University, 1998-2002


  • Lecturer in Mitochondrial Genetics, Newcastle University, 2011-Present

  • RCUK Academic Fellow, Newcastle University, 2006-2011

  • Research Associate, Newcastle University, 2005-2006

  • MRC Bioinformatics Training Fellow, Newcastle University, 2002-2005

  • I currently hold an honorary Professorship at NWU and have organised a Royal Society-funded meeting in South Africa to address issues relating the difficulties in the diagnosis of mtDNA disease in black African population 


Papers from major research themes

  • A major theme in my research has been the use evolutionary concepts and computational methods to help in the assignment of pathogenicity to mtDNA variants in patients with clinically manifesting mitochondrial disease. Most recently exploring the importance of haplogroup context in the expression and penetrance of mtDNA mutations.


  • Another prominent theme entails the role of mtDNA variation in complex traits. This area has been very controversial over the years, with a myriad of conflicting results to be found in the literature. I developing new models to link mtDNA variation to complex traits.


    • An emerging theme looks at the role of mitochondria and mtDNA in Chronic fatigue syndrome (CFS), also referred to as myalgic encephalomyelitis (ME).


  • MtDNA population genetics at the cellular and population level has been another long standing theme of my research.


I have authored over sixty original research articles, which are published in peer-reviewed journals with a H-index of 24, and seven of my publications have over 100 citations.


Major theme: Diagnosis of mtDNA mutations and the importance of haplogroup context in the diagnosis


  1. Queen RA, Steyn JS, Lord P, Elson JL. Mitochondrial DNA sequence context in the penetrance of mitochondrial t-RNA mutations: A study across multiple lineages with diagnostic implications.PLoS One. 2017 Nov 21; 12(11):PLoS One. 2017 Nov 21; 12(11).

  2. Elson JL, Smith PM, Greaves LC, Lightowlers RN, Chrzanowska-Lightowlers ZM, Taylor RW, Vila-Sanjurjo A. The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease. Mitochondrion. 2015 Nov; 25: 17-27.

  3. van der Westhuizen FH, Sinxadi PZ, Dandara C, Smuts I, Riordan G, Meldau S, Malik AN, Sweeney MG, Tsai Y, Towers GW, Louw R, Gorman GS, Payne BA, Soodyall H, Pepper MS, Elson JL. Understanding the implications of mitochondrial DNA variation in the health of black southern African populations: the 2014 workshop. Human Mutation. 2015 May; 36(5):569-571.

  4. Elson JL, Smith PM, Vila-Sanjurjo A. Heterologous Inferential Analysis (HIA) as a Method to Understand the Role of Mitochondrial rRNA Mutations in Pathogenesis. Methods Molecular Biology. 2015:1264:369-83.

  5. Elson JL*, Smith PM*, Greaves LC, Wortmann SB, Rodenburg RJ, Lightowlers RN, Chrzanowska-Lightowlers ZM, Taylor RW, Vila-Sanjurjo A. The role of the mitochondrial ribosome in human disease: Searching for mutations in 12S mitochondrial rRNA with high disruptive potential. Human Molecular Genetics. 2014 Feb; 15; 23(4):949-967. *equal contribution

  6. Elson JL,  Sweeney MG, Procaccio V, Yarham JW, Salas A, Kong QP, van der Westhuizen FH, Pitceathly RD, Thorburn DR, Lott MT et al. Towards a mtDNA locus-specific mutation database using the LOVD platform. Human Mutation. 2012 Sep; 33(9):1352-1358.

  7. Yarham JW, McFarlanda R, Taylor R, Elson JL. A proposed consensus panel of organisms for determining evolutionary conservation of mt-tRNA point mutations. Mitochondrion 2012 Sep; 12(5):533-538.

  8. van der Walt EM, Smuts I, Taylor RW, Elson JL, Turnbull DM, Louw R, van der Westhuizen FH. Characterization of mtDNA variation in a cohort of South African paediatric patients with mitochondrial disease. European Journal of Human Genetics. 2012 Jun;20(6):650-6.

  9. Salas A, Elson JL. Raising Doubts about the Pathogenicity of Mitochondrial DNA Mutation m.3308T>C in Left Ventricular Hypertraveculation/Noncompaction.Cardiology. 2012; 122(2):113-5.

  10. Yarham JW, Al-Dosary M, Blakely EL, Alston CL, Taylor RW, Elson JL, McFarland R. A Comparative analysis approach to determining the pathogenicity of mitochondrial tRNA mutations. Human Mutation. 2011 Nov; 32(11):1319-25. Citations 89

  11. Yarham JW, Elson JL, Blakely EL, McFarland R, Taylor RW. Mitochondrial tRNA mutations and disease. Wiley Interdisciplinary Reviews-RNA. 2010 Sep-Oct; 1(2):304-24. Citations 60 

  12. Elson JL, Swalwell H, Blakely EL, McFarland R, Taylor RW, Turnbull DM. Pathogenic mitochondrial tRNA mutations - Which mutations are Inherited and why? Human Mutation. 2009 Nov; 30(11):E984-E992. Citations 26

  13. Mitchell AL, Elson JL, Howell N, Taylor RW, Turnbull DM. Sequence variation in mitochondrial complex I genes: Mutation or polymorphism?Journal of Medical Genetics. 2006 Feb; 43(2):175-9. Citations 77

  14. McFarland R, Elson JL, Taylor RW, Howell N, Turnbull DM: Assigning pathogenicity to mitochondrial tRNA mutations. When 'definitely maybe' is not good enough. Trends in Genetics. 2004 Dec; 20(12):591-596. Citations 119


MtDNA variation in complex traits and the development of new association models:


  1. Pienaar IS, Howell N, Elson JL. MutPred mutational load analysis shows mildly deleterious mitochondrial DNA variants are not more prevalent in Alzheimer's patients, but may be under-represented in healthy older individuals. Mitochondrion. 2017 May;34:141-146

  2. Venter M, Malan L, Dyk E, van der Westhuizen FH*, Elson JL*. Using MutPred, derived mtDNA load scores to evaluate mtDNA variation in hypertension and diabetes in a two-population cohort: The SABPA study. Journal of Genetics and Genomics. 2016 Dec 26; 44(3):139-149. * equal contribution

  3. Salas A, Elson JL. Mitochondrial DNA as a risk factor for false positives in case-control association studies. Journal of Genetics and Genomics. 2015 Apr 20; 42(4):169-172.

  4. Chinnery PF, Mowbray C, Elliot H, Elson JL, Nixon H, Hartley J, Shaw PJ. Mitochondrial DNA haplogroups and amyotrophic lateral sclerosis. Neurogenetics. 2011 Aug; 12(3):169-73.

  5. Elson JL, Majamaa K, Howell N, Chinnery PF. Associating mitochondrial DNA variation with complex traits. American Journal of Human Genetics. 2007 Feb; 80(2):378-382.

  6. Elstner M, Schmidt C, Zingler VC, Prokisch H, Bettecken T, Elson JL, Rudolph G, Bender A, Halmagyi GM, Brandt T et al. Mitochondrial 12S rRNA susceptibility mutations in aminoglycoside-associated and idiopathic bilateral vestibulopathy. Biochemical and Biophysical Research Communications. 2008 Dec; 12;377(2):379-83.

  7. Hudson G, Mowbray C, Elson JL, Jacob A, Boggild M, Torroni A, Chinnery PF. Does mitochondrial DNA predispose to neuromyelitis optica (Devic's disease)? Brain. 2008 Apr; 131(Pt 4):e93

  8. Ban M, Elson J, Walton A, Turnbull D, Compston A, Chinnery P, Sawcer S. Investigation of the role of mitochondrial DNA in multiple sclerosis susceptibility. PLoS One. 2008 March; 3(8).

  9. Hudson G, Carelli V, Spruijt L, Gerards M, Mowbray C, Achilli A, Pyle A, Elson J, Howell N, La Morgia C et al. Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. American Journal of Human Genetics. 2007 Aug; 81(2):228-233.

  10. Chinnery PF, Mowbray C, Patel SK, Elson JL, Sampson M, Hitman GA, McCarthy MI, Hattersley AT, Walker M. Mitochondrial DNA haplogroups and type 2 diabetes: A study of 897 cases and 1010 controls. Journal of Medical Genetics. 2007 Jun; 44(6):e80. Citations 24

  11. Elson JL, Herrnstadt C, Preston G, Thal L, Morris CM, Edwardson JA, Beal MF, Turnbull DM, Howell N. Does the mitochondrial genome play a role in the etiology of Alzheimer's disease? Human Genetics. 2006 Dec;119(3):241-254. Citations 62

  12. Howell N, Elson JL, Chinnery PF, Turnbull DM: mtDNA mutations and common neurodegenerative disorders. Trends in Genetics. 2005 Nov; 21(11):583-6 Citations 54

  13. Baudouin SV, Saunders D, Tiangyou W, Elson JL, Poynter J, Pyle A, Keers S, Turnbull DM, Howell N, Chinnery PF. Mitochondrial DNA and survival after sepsis: A prospective study. Lancet. 2005 Dec; 17;366(9503):2118-21. Citations 112

The role of mitochondria and mtDNA in chronic fatigue syndrome (CFS), also referred to as myalgic encephalomyelitis (ME):


  1. Tomas C, Brown A, Strassheim V, Elson J, Newton J, Manning P. Cellular bioenergetics is impaired in patients with chronic fatigue syndrome. PLoS One. 2017 Oct 24; 12 (10).

  2. Schoeman E, Van Der Westhuizen FH, Erasmus E, van Dyk E, Knowles C, Al-Ali S, Ng W, Taylor RW, Newton JL, Elson JL. Clinically proven mtDNA mutations are not common in those with Chronic Fatigue Syndrome. BMC Med Genet. 2017 Mar 16; 18(1).

  3. Gorman GS*, Elson JL*, Newman J, Payne B, McFarland R, Newton JL, Turnbull DM. Perceived fatigue is highly prevalent and debilitating in patients with mitochondrial disease. Neuromuscular Disorders. 2015 Jul; 25(7):563-6. *equal contribution

  4. Elson JL, Cadogan M, Apabhai S, Whittaker RG, Phillips A, Trennell MI, Horvath R, Taylor RW, McFarland R, McColl E, Turnbull DM, Gorman GS.  Initial development and validation of a mitochondrial disease quality of life scale. Neuromuscular Disorders. 2013 Apr; 23(4):324-9.

Mitochondrial DNA (mtDNA) genetics and the population and cellular level:


  1. Greaves LC, Elson JL, Nooteboom M, Grady JP, Taylor GA, Taylor RW, Mathers JC, Kirkwood TB, Turnbull DM. Comparison of mitochondrial mutation spectra in ageing human colonic epithelium and disease: absence of evidence for purifying selection in somatic mitochondrial DNA point mutations. PLoS Genetics. 2012 Nov; 8(11). Citations 24

  2. Greaves LC, Nooteboom M, Elson JL, Tuppen HA, Taylor GA, Commane DM, Arasaradnam RP, Khrapko K, Taylor RW, Kirkwood TB, Mathers JC, Turnbull DM. Clonal Expansion of Early to Mid-Life Mitochondrial DNA Point Mutations Drives Mitochondrial Dysfunction during Human Ageing. PLoS Genetics. 2014 Sep 18; 10(9). Citations 31

  3. Hudson G, Wilson I, Payne BI, Elson J, Samuels DC, Santibanez-Korev M, Hall SJ, Chinnery PF. Unique mitochondrial DNA in highly inbred feral cattle. Mitochondrion. 2012 May, 12(4):438-440.

  4. Elson JL, Apabhai S, Gorman G, Whittaker RG, Krishnan KJ. Older mothers are not at risk of having grandchildren with sporadic mtDNA deletions. Genetics in Medicine. 2010 May; 12(5):313-314.

  5. Stewart JB, Freyer C, Elson JL, Wredenberg A, Cansu Z, Trifunovic A, Larsson NG. Strong purifying selection in transmission of mammalian mitochondrial DNA. PLoS Biology. 2008 Jan; 6(1):63-71.Citations 220

  6. Elson JL, Turnbull DM, Howell N. Comparative genomics and the evolution of human mitochondrial DNA: Assessing the effects of selection. American Journal of Human Genetics. 2004 Feb;74(2):229-238.

  7. Herrnstadt C, Elson JL, Fahy E, Preston G, Turnbull DM, Anderson C, Ghosh SS, Olefsky JM, Beal MF, Davis RE et al. Reduced-median-network analysis of complete mitochondrial DNA coding-region sequences for the major African, Asian, and European haplogroups. American Journal of Human Genetics. 2002 Aug;71(2):448-449. Citations 350

  8. Elson JL, Andrews RM, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N: Analysis of European mtDNAs for recombination. American Journal of Human Genetics. 2001 Jan; 68(1):145-153. Citations 77

  9. Stewart JB, Freyer C, Elson JL, Larsson NG. Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease. Nature Reviews Genetics. 2008 Sept; 9(9):657-662. Citations 66

  10. Howell N, Howell C, Elson JL. Time dependency of molecular rate estimates for mtDNA: This is not the time for wishful thinking. Heredity. 2008 Aug; 101(2):107-8.

  11. Elson JL, Lightowlers RN: Mitochondrial DNA clonality in the dock. Can surveillance swing the case?Trends in Genetics. 2006 Nov; 22(11):603-7. Citations 28  

  12. Howell N, Elson JL, Howell C, Turnbull DM. Relative rates of evolution in the coding and control regions of African mtDNAs. Molecular Biology and Evolution. 2007 Oct; 24(10):2213-21. Citations 24

  13. McFarland R, Taylor RW, Elson JL, Lightowlers RN, Turnbull DM, Howell N: Proving pathogenicity. When evolution is not enough. American Journal of Medical Genetics. 2004 Nov; 15;131(1):107-8.

  14. Howell N, Elson JL, Turnbull DM, Herrnstadt C. African haplogroup L mtDNA sequences show violations of clock-like evolution. Molecular Biology and Evolution. 2004 Oct; 21(10):1843-54 Chinnery PF, Samuels DC, Elson J, Turnbull DM. Accumulation of mitochondrial DNA mutations in ageing, cancer, and mitochondrial disease: Is there a common mechanism?Lancet. 2002 May; 360(9342):1323-1325. Citations 33

  15. Elson JL, Samuels DC, Johnson MA, Turnbull DM, Chinnery PF. The length of cytochrome c oxidase-negative segments in muscle fibres in patients with mtDNA myopathy. Neuromuscular Disorders. 2001 Mar; 68(3):802-6.

  16. Elson JL, Samuels DC, Turnbull DM, Chinnery PF. Random intracellular drift explains the clonal expansion of mitochondrial DNA mutations with age. American Journal of Human Genetics. 2001 Mar;68(3):802-806. Citations 181



I am the postgraduate research student co-coordinator at the Institute of Genetic Medicine (IGM) of Newcastle University. In this role I am responsible for the pastoral wellbeing of all of the ~60 postgraduate students who study at the IGM. I also have ultimate responsibility to ensure completion of learning agreements, project approvals and yearly assessments, so that the IGM is in compliance with the key performance indicators set by the University.

I am also the senior tutor on the MSc in Medical Sciences.

I teach on a number of undergraduate and postgraduate programs.