Professor Jo Poulton’s Oxford research group:

There are no good treatments for patients with established mitochondrial disease.  Over the past five years Prof Jo Poulton's team have developed a novel method for quantifying mitophagy (a type of mitochondrial quality control) in cells from mitochondrial patients. Furthermore, they have developed various models on which to test these.  Current research areas build on this work:

  • The team are now identifying drug modulators of mitophagy which may prevent progression or even ameliorate mitochondrial diseases.  They are funded by the Lily Foundation to investigate candidate drugs for treating mtDNA depletion syndrome.
  • They are looking to develop a way to improve the outcome of pre-implantation genetic diagnosis and mitochondrial replacement therapy to prevent mtDNA diseases.

Further information is provided on the University of Oxford webpage.

Research and development work in Oxford Medical Genetics Laboratories:

The mitochondrial genetics laboratory team are committed to translating technical developments and research findings into routine mitochondrial diagnostic service. This ensures continual improvement in diagnostic yield, more rapid & accurate diagnoses for patients and their families, and informs genetic management.

Recent developments include:

  • Expanding the use of next generation sequencing approaches to identify the underlying genetic cause in an ever increasing proportion of patients, particularly in PDH deficiency, mtDNA disease and mtDNA maintenance disorders.
  • Implementation of whole exome sequencing into the diagnostic service.

Ongoing service developments include improved assays for analysis and characterisation of mitochondrial DNA rearrangements.

In addition, the team collaborate closely with colleagues across the 3 centres, on a varied array of research projects to further characterise mitochondrial disorders and develop new treatments.