Professor Joanna Poulton BM BCh DM FRCP

Jo was the clinical lead of the service until 2019 and is now focusing on research.  She trained in paediatrics at Birmingham Children’s Hospital then the Dubowitz Neuromuscular Unit (London).  She developed a research interest in mitochondrial genetics as a Wellcome Senior Research Fellow in Clinical Science, then as Royal Society Research Fellow.

Key achievements:

• Advances in Mitochondrial Genetics
• As chair/co-chair of European Neuromuscular Centre (ENMC) workshops in 2000, 2010 and 2019 she constructed the current European consensus view on prenatal genetic management of mtDNA disease and mitochondrial replacement therapy.

Research:

• First to describe pathological mitochondrial DNA (mtDNA) duplications
• Her studies of the mitochondrial bottleneck in oocytes laid the foundation for emerging technologies for reducing transmission of mtDNA diseases, pre-implantation genetic diagnosis and nuclear transfer.
• First mammalian model of transmission of detrimental mtDNA mutants
• Current work focuses on mitochondrial DNA quality control view to developing a new line of treatments for mitochondrial disease.