Joanna Poulton: Research is in my DNA

Biography

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.