Academic Editor

Joanna L Elson


My work considers mtDNA disease through the prism of evolution, applying a number of techniques to develop methods to identify pathogenic mtDNA mutations. I also work on the role of mtDNA population variation in common disease, inclusive of projects centred round a single disease and method development. Others papers centre on fundamentals of mitochondrial genetics including inheritance and the selective forces that have shaped mtDNA variation in modern human populations.

Bioinformatics Databases Genetics Genomics Medical Genetics Metabolic Sciences Neurology Neuroscience Statistics

Past or current institution affiliations

Work details


Newcastle university
I am a lecturer who has worked in the team for nearly fifteen years. I look at mtDNA disease through the prism of evolution, and apply informatics techniques to help develop methods which identify pathogenic mtDNA mutations. I have worked with many other members of the team as well as investigators overseas. Most recently, I have formed a close collaboration with investigators and clinicians in South Africa whose patients have different clinical presentations making them difficult to diagnose. Here I have been motivated by a desire to help replicate the strides made at Newcastle and other centres in identifying mtDNA patients in order to aid them.

Extraordinary Associate Professor (Human Genetics)

University of North West
Natural and Agricultural Sciences


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