University of Melbourne
Professor David Thorburn and Dr Alison Compton
Murdoch Children’s Research Institute
Using Massively Parallel Sequencing to understand the genetic basis of mitochondrial disorders: a population-based approach
In Australia, on average, one child a week is born with a mitochondrial disorder. For many of these patients the underlying genetic cause has not been found. This can leave families desperate for answers and without knowing what ‘risk’ they have of having a second child with the same disease, and never knowing what has caused their child’s illness.
Hayley’s PhD project uses a new gene sequencing technique called Massively Parallel Sequencing. It has allowed us to investigate over 1,000 genes encoding all the known mitochondrial proteins (or the ‘MitoExome’) at the same time, in each patient, to look for DNA changes that may be the cause of their particular mitochondrial disorder. Massively Parallel Sequencing produces huge amounts of data, which require a large amount of analysis and follow up work to get a definitive result. Hayley’s role is to confirm some of these DNA changes that were identified by the ‘MitoExome’ project, and to look at the effect of the altered protein in patient cell lines and tissue.
Hayley will also be sequencing the DNA of a second patient cohort to identify novel genes involved in mitochondrial disease, improving catalogues of disease genes involved in mitochondrial disease for use in the scientific community, and providing an underlying genetic diagnosis for patients and their families.