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Observations BMJ Confidential

Joanna Poulton: Research is in my DNA

BMJ 2017; 359 doi: (Published 06 December 2017) Cite this as: BMJ 2017;359:j5467
Duncan Smith


Joanna Poulton is professor and honorary consultant in mitochondrial genetics at Oxford, where she works on diseases caused by mutant mitochondrial DNA. Such mutations, passed down the female line, can cause a range of conditions including deafness, blindness, diabetes, and heart and liver failure. In most cases people have a mixture of normal and damaged DNA (heteroplasmy), and the severity of the condition depends on the proportions of each. Her data on the transmission of mitochondrial DNA (the “bottleneck”) were a breakthrough for mitochondrial prenatal diagnosis and ultimately for high profile mitochondrial replacement therapy. Poulton hopes that drugs may help harness a natural cellular quality control system to alter this balance favourably and reduce disease severity.

What was your earliest ambition?

To be a fairy, with wings and a magic wand.

Who has been your biggest inspiration?

My parents: my mother, who got her Cambridge MD at age 90; and my father, who taught all of us scientific method and critical thinking.

What was your best career move?

Leaving my job as a temporary lecturer in paediatrics to start my first research job as an action research training fellow. This gave me freedom from clinical work and the time to think and learn the tools of the trade. My supervisor, Mark Gardiner, suggested courses, training opportunities, and …

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