Our Impact

Leigh Syndrome International Consortium

$300,000 AUD

01/07/2019 → 30/06/2022

The Leigh Syndrome International Consortium is a patient-driven research network that will establish global best practices of care for Leigh…

Creating an Australian Clinical Trials Network

$225,000 AUD

01/11/2018 → 31/10/2021

This project will support the activities of the Australian Clinical Trials Network for Mitochondrial Disease (ACTN-MD) and the running of…

Pathogenesis Associated with Dysfunctional Mitochondrial Protein Import

$18,000 AUD

08/01/2018 → 08/01/2021

Understanding how mitochondria work is the key to finding treatments and cures for the many types of mitochondrial diseases (mito).…

Functional Genomics in Gene Discovery and Clinical Practice

$287,469 AUD

01/09/2018 → 30/08/2020

This project will focus on improving translation of genomics into optimal clinical practice by addressing the following issues: Improved genomic…

Evaluating the cost-effectiveness of whole genome sequencing for the diagnosis of mitochondrial disease

$150,000 AUD

20/06/2018 → 20/06/2020

It is anticipated that this research will increase accessibility to early intervention, and completely transform the way mito is treated.…

30 Years of Paediatric Mitochondrial Disease in Australia

$125,000 AUD

18/02/2019 → 18/02/2020

Dr Bursle’s research will provide an overview of mitochondrial diseases in children over the past 30 years in Australia. This…

Utility of FGF21 and GDF15 as Diagnostic and Prognostic Biomarkers

$90,293 AUD

01/03/2016 → 01/10/2019

Mitochondrial respiratory chain disorders (MRCD) are a  group of disorders often causing multi-system disease. Diagnosis is often difficult and requires…

Could Stem Cell-Derived Tissue Cultures Replace Animal Models

$24,627 AUD

01/10/2018 → 01/09/2019

Mitochondrial disease patients present a wide range of symptoms and across different organ systems that make it difficult to diagnose…

Building a National Clinical Database

$75,000 AUD

01/06/2018 → 30/06/2019

The lack of knowledge about mitochondrial disease (mito) means that it is extremely difficult to assess the effectiveness of treatments…

Beyond the Exome

$75,000 AUD

16/04/2018 → 15/04/2019

New genomic technologies are transforming diagnosis of mitochondrial disease (mito) and other inherited diseases but perhaps half of all children…