Professor Joanna Poulton BCh DM FRCP
Jo is the clinical lead of the service. 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.
- Advances in Mitochondrial Genetics
- As chair/co-chair of European Neuromuscular Centre (ENMC) workshops in 2000 and 2010 constructed the current European consensus view on prenatal genetic management of mtDNA disease
- 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.