Mitochondria are responsible for converting food energy into cellular energy.  They rely on genetic information from two sources; DNA on chromosomes in the nucleus and their own DNA (mtDNA).  Mutations in either can cause disease.  The most common mtDNA mutation, m.3243A>G, causes a devastating syndrome that results in uncontrolled seizures, strokes and early death.  However, large numbers of m.3243A>G carriers have different symptoms, including diabetes and deafness.  m.3243A>G can affect any organ, at any age and with any degree of severity. 

I am interested in the interaction between nuclear genetic variation and mtDNA variation and how this influences clinical outcome.  My project involves using clinical and genetic data from families who carry m.3243A>G in order to identify nuclear genetic variation that modifies the clinical phenotype.

The discovery of genetic risk factors for m.3243A>G-related disease will improve our understanding of this common mitochondrial disease and allow clinicians to tailor patient treatment and advice.

Academic background

• 1995-1998: University of Oxford, Somerville College: MA(Hons) Physiological Sciences
• 1998-2001: University of Oxford, Wellcome Centre for Human Genetics, Green College: DPhil Genetic Susceptibility to Tuberculosis
• 2001-2003: University of Oxford, Wellcome Centre for Human Genetics: Wellcome Prize Fellowship - Genetic Susceptibility to Tuberculosis
• 2003-2004: University of Leeds: Genetic statistician
• 2015-2017: Wellcome Centre for Mitochondrial Research: Research Associate
• 2017 – present: Wellcome Centre for Mitochondrial Research, Wellcome Career Re-entry Fellow: Identification of nuclear modifiers for m.3243A>G-related mitochondrial disease

• Pickett SJ, Blain A, Ng YS, Wilson IJ, Taylor RW, McFarland R, Turnbull DM, Gorman GS. Mitochondrial donation - Which women could benefit?. New England Journal of Medicine 2019, 380(20), 1971-1972.
• Boggan RM, Lim A, Taylor RW, McFarland R, Pickett SJ. Resolving complexity in mitochondrial disease: Towards precision medicine. Molecular Genetics and Metabolism 2019, 128(1-2), 19-29.
• Boal RL, Ng YS, Pickett S, Schaefer AM, Feeney C, Bright A, Taylor RW, Turnbull DM, Gorman GS, Cheetham T. Height as a clinical biomarker of disease burden in adult mitochondrial disease. Journal of Clinical Endocrinology and Metabolism 2019, 104(6), 2057-2066.
• Grady JP, Pickett SJ, Ng YS, Alston CI, Blakely EL, Hardy SA, Feeney CL, Bright AA, Schaefer AM, Gorman GS, McNally RJ, Taylor RW, Turnbull DM, McFarland R. mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease. EMBO Molecular Medicine 2018, 10(6), e8262.
• Pickett S, Grady JP, Ng YS, Gorman GS, Schaefer AM, Wilson IJ, Cordell HJ, Turnbull DM, Taylor RW, McFarland R. Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors. Annals of Clinical and Translational Neurology 2018, 5(3), 333-345.