Centre for Health and Bioinformatics


Dr Sarah Pickett

Wellcome Trust Career Re-Entry Fellow


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
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