Skip to content
  • About
    • What we do
    • Our history
    • Our team
    • Our committees
    • Our partners
    • About genomics
  • Services
    • What we offer
    • Research we’re supporting
  • Tools & resources
    • Search all tools & resources
    • Research ethics & governance
    • Consent & patient support materials
    • Evaluating genomic research & translation
    • Data governance
    • Access our datasets
    • Data capture & standardisation
    • Data analysis & interpretation
    • Workforce education
    • Our publications
    • Our submissions
  • Our project areas
    • Our project areas
    • Genomic information management
    • Clinical genomic practice
    • Genomic literacy, workforce & training
    • Indigenous genomic priorities
    • Genomic diagnostics
    • Evaluating genomic research & translation
    • Australian health system policy & practice
    • Involvement & engagement
  • News & events
    • News
    • Events
    • Personal stories
    • Search news & events
  • Connect with us
Image of Mitochondria

Mitochondrial Diagnostic Network

Home Research we’re supporting Mitochondrial Diagnostic Network

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. 

Lead investigator

Professor David Thorburn

Professor David Thorburn

Contact

Elle Martin elle.martin@mcri.edu.au


More research

Mackenzie’s Mission

A national large-scale automated reanalysis program

Diagnostic technologies for neurogenetic diseases

Connect with us

(03) 9936 6345
info@australiangenomics.org.au
50 Flemington Road, Parkville
Victoria 3052 Australia

In the spirit of reconciliation Australian Genomics acknowledges the Traditional Custodians of country throughout Australia and their connections to land, sea and community. We pay our respect to their elders past and present and extend that respect to all Aboriginal and Torres Strait Islander peoples today.

To stay informed about our work, sign up to our newsletter

Subscribe

Quicklinks

  • Home
  • What we do
  • What we offer
  • Tools & resources
  • Our publications
  • Our project areas
  • Research we’re supporting
  • Our team

Privacy

  • We follow the Australian Privacy Principles
  • General privacy policy
  • Website privacy policies
  • Terms & conditions

Website by Blueboat.