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 


Publications and Research Interests 

I have authored over seventy original research articles, which are published in peer-reviewed journals with aH-index of 26, and ten of my publications have over 100 citations.

 The 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.

A 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 am 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 teach on the following courses: Diagnostic Medical Genetics (BGM1004), Evolution (BGM2058), Extended essays for Biomedical Sciences (BMS2011), MBBS stage 2 ethics (CMB2000), Genetics of Complex Disease (MMB8014), Mitochondrial Biology (MMB8034), Research Skills and Principles for the Biosciences (MMB8100) as well as the Genomic Medicine MSc.


PhD students supervised to completion

  • John Yarham (2009 - 2012): Mitochondrial tRNA mutations and disease

  • Marianne Pretorius (2013 - 2017): Investigation of the involvement of mitochondrial DNA variants in cardiometabolic disease: the SABPA study  

  • Cara Thoms (2014 - 2018): The assessment of cellular bioenergetics in chronic fatigue syndrome


Current PhD students

  • Carla Bayern (2015 - ): Does Anti-Retroviral Therapy Accelerate the Speed of Physiological Ageing Through the Clonal Expansion of MtDNA Mutations?

  • Alex McLoughloin (2018 -): The role of acquired mtDNA damage in the PPN in Parkinson's disease


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.