Dr Sarah Pickett
Wellcome Trust Career Re-Entry Fellow
- Telephone: 0191 2085264
- Personal Website: firstname.lastname@example.org
- Address: Wellcome Trust Centre for Mitochondrial Research
Institute of Neuroscience
4th Floor Cookson Building
Newcastle upon Tyne
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.
- 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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- 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.
- Grady JP, Pickett SJ, Ng YS, Alston CL, 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, e8262.