A team of mitochondrial researchers led by Professor David Thorburn has secured $3M in funding to establish a national network to improve mito diagnosis. The funding is part of the 2021 Medical Research Future Fund Genomics Health Futures Mission round, announced on 30 June by Federal Health Minister Greg Hunt.

Mito diagnosis remains complicated because it can be caused by changes in more than 350 different genes and has an enormous range of clinical presentations. A genetic diagnosis is important to guide therapy and clinical management, to identify or eliminate risk to family members and to enable access to clinical trials and reproductive options. The latter includes prenatal diagnosis and pre-implantation genetic diagnosis as well as potentially mitochondrial donation, which is currently being considered by parliament.

Professor Thorburn says “New genomic (DNA) technologies have increased our ability to diagnose mitochondrial diseases from less than a quarter of patients to about a half,” he said. "Our project establishes a national network seeking to identify new genes, mechanisms and phenotypes while enabling personalised treatments and achieving better health outcomes for patients with these diseases.”

The study seeks to further improve the diagnostic rate by using new ‘omic’ technologies, that can simultaneously detect changes in thousands of proteins, RNA and small molecules in addition to the DNA studied by genomic sequencing.

The team of nine Chief Investigators comprises David Thorburn, Carolyn Sue, Aleksandra Filipovska, Mike Ryan, David Stroud, Diana Stojanovski, Dave Coman, Sean Murray and Ryan Davis. It includes four groups in Melbourne, one in Sydney, one in Perth plus the Mito Foundation and Associate Investigators across the country.

Professor Thorburn says “All the team is closely engaged with the Mito Foundation and previous Mito Foundation funding was a key to building our case to win this funding. Relevant previous support has been from Incubator & Booster grants, PhD top-ups, Fellowships, Equipment & Translational research grants.

In addition, Mito Foundation has committed a further $300k to this project to maximise the number of patients who can be studied. Our team is really grateful to the mito community for all the work that has gone into fundraising. We’re also very excited that our national network will be funded to improve mito diagnosis.”