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.

Key achievements:

  • 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

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.