Mitochondrial Diseases (MDs) are the most common group of inherited metabolic disorders. They can be caused by changes in more than 300 different genes and affect any or all of our organ systems. New genomic (DNA) technologies have increased our ability to diagnose MDs from less than a quarter of patients to about a half. This study seeks to further improve the diagnostic rate by using new “Omic” technologies that can detect changes in thousands of RNAs, proteins and metabolites all at once.
MitoMDT (Mito Multi-Disciplinary Team) will be a national Mitochondrial Diagnostic Network for Genomics and Omics comprising clinicians, researchers and diagnostic scientists. It will seek to combine genomic testing with additional Omic technologies to improve diagnostic rates for Mitochondrial Disease (MD) to more than 70 per cent. This will identify novel genes, mechanisms and phenotypes, while enabling personalised treatments and achieving better health outcomes for patients with MDs.
MDs provide a microcosm of the challenges faced in genomic diagnosis of other rare diseases. The project will therefore seek to demonstrate that the technological and organisational approaches it develops could be effectively deployed for many other rare diseases. It will leverage the imminent introduction of Mitochondrial Donation in Australia to raise clinical and community awareness about the importance of genomic diagnosis.
Professor David Thorburn