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 populations.


  Research themes

  • My work examines a number of fundamental processes that have shaped the evolution of mitochondrial DNA (mtDNA) in humans. I use evolutionary concepts and computational methods to help in the assignment of pathogenicity to mtDNA variants in patients with clinically manifesting mitochondrial disease.


  • A second theme in my research explores the importance of haplogroup context in the diagnosis and expression of mtDNA mutations. The diagnosis of disease resulting from mtDNA mutations in black African populations lags behind that of Caucasian Europeans and many Asian populations. This creates an important diagnostic inequality. I  work on this theme in collaboration with Prof. Francois Van Der Westhuizen of North-West University (NWU). I currently hold an honorary Professorship at NWU and have organised a Royal Society-funded meeting in South Africa to address these issues.


  • A third 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 putting forward a new model to link mtDNA variation to complex traits.

I have authored over sixty original research articles which are published in peer-reviewed journals and have an H-index of 26.


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.