#2020Shortlist

Sarah Pickett

NEWCASTLE UNIVERSITY

#LifeSciences   –  🏆 Winner 2020 #FWISAward

“Understanding the molecular mechanisms underlying mitochondrial disease”

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Known as the ‘powerhouse of the cell’, mitochondria are responsible for converting food energy into cellular energy.

Any changes within the mitochondrial DNA can lead to mitochondrial disease, and so Dr Pickett is researching the fundamental mechanisms behind the most common mutation – the A to G switch (m.3243A.G). Not only will these help clinicians to treat the huge range of diseases that result from this, but it will also make a variation within symptoms far easier to predict.

Dr Pickett has recently discovered that several symptoms relating to the m.3243A>G mitochondrial mutation have high to moderate heritability estimates. As she further explains, “The proposed project is highly novel; using tools from complex disease genetics to identify nuclear modifiers… in a unique clinical cohort. The discovery of genetic risk factors for m.3243A>G-related disease will improve our understanding of this common mitochondrial disease and will have a direct translational impact”.

As an internationally recognised mitochondrial geneticist, Dr Pickett recently obtained a Wellcome Trust Fellowship for Career Re-Entry after having taken 11 years off to start a family. Passionate about encouraging diversity and inclusion within the academic environment, she proposes to use the funding to employ a part-time technician in her lab to – this will offer them a chance to re-establish their own career whilst carrying out groundbreaking research.

Quote

“Mitochondrial genes act like a female surname which enables us to trace our ancestry down the female line”

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Nick Lane, Author of Power, Sex, Suicide: Mitochondria and the Meaning of Life

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