麻豆传媒

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 research 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
• 2017-2024: Wellcome Centre for Mitochondrial Research, Wellcome Career Re-entry Fellow: Identification of nuclear modifiers for m.3243A>G-related mitochondrial disease
• 2024-present: Research Fellow, Wellcome Career Development Award

Google Scholar:

• Articles

  • Cannon SJ, Hall T, Hawkes G, Colclough K, Boggan RM, Wright CF, Pickett SJ, Hattersley AT, Weedon MN, Patel KA. . Human Molecular Genetics 2024, 33(5), 465-474.
  • Xia C, Pickett SJ, Liewald DCM, Weiss A, Hudson G, Hill WD. . Nature Communications 2023, 14(1), 3146.
  • Franklin IG, Milne P, Childs J, Boggan RM, Barrow I, Lawless C, Gorman GS, Ng YS, Collin M, Russell OM, Pickett SJ. . Life Science Alliance 2023, 6(11), e202302271.
  • Pickett SJ, Deen D, Pyle A, Santibanez-Koref M, Hudson G. . Mitochondrion 2022, 63, 85-88.
  • Franco M, Pickett SJ, Fleischmann Z, Khrapko M, Cote-L'Heureux A, Aidlen D, Stein D, Markuzon N, Popadin K, Braverman M, Woods DC, Tilly JL, Turnbull DM, Khrapko K. . Human Molecular Genetics 2022, 31(23), 4075-4086.
  • Chen C, McDonald D, Blain A, Sachdeva A, Bone L, Smith ALM, Warren C, Pickett SJ, Hudson G, Filby A, Vincent AE, Turnbull DM, Reeve AK. . npj Parkinson's Disease 2021, 7(1), 39.
  • Boal RL, Ng YS, Pickett S, Schaefer AM, Feeney C, Bright A, Taylor RW, Turnbull DM, Gorman GS, Cheetham T. . Journal of Clinical Endocrinology and Metabolism 2019, 104(6), 2057-2066.
  • Pickett S, Grady JP, Ng YS, Gorman GS, Schaefer AM, Wilson IJ, Cordell HJ, Turnbull DM, Taylor RW, McFarland R. . Annals of Clinical and Translational Neurology 2018, 5(3), 333-345.
  • 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. . EMBO Molecular Medicine 2018, 10(6), e8262.

• Letter

  • Pickett SJ, Blain A, Ng YS, Wilson IJ, Taylor RW, McFarland R, Turnbull DM, Gorman GS. . New England Journal of Medicine 2019, 380(20), 1971-1972.

• Note

  • Pickett SJ, Taylor RW, McFarland R. . Cell Metabolism 2024, 36(7), 1436-1438.

• Reviews

  • Richter U, McFarland R, Taylor RW, Pickett SJ. . FEBS Letters 2021, 595(8), 1003-1024.
  • Gomes TMB, Ng YS, Pickett SJ, Turnbull DM, Vincent AE. . Human Molecular Genetics 2021, 30(R2), R245-R253.
  • Boggan RM, Lim A, Taylor RW, McFarland R, Pickett SJ. . Molecular Genetics and Metabolism 2019, 128(1-2), 19-29.