A Customised Digital Health Intervention to improve fatigue and function in patients with mitochondrial disease

$225,000 AUD

01/07/2020 → 30/06/2023

Muscle fatigue and weakness is one of the most common problems faced by patients with mitochondrial disease. These problems are…

A functional characterisation of the mitochondrial disease-associated ATAD3 gene cluster

$18,000 AUD

10/04/2020 → 24/02/2023

Like clockwork, mitochondria –the powerhouse of the cell– rely on a vast range of turning cogs and wheels –or in…

Engineering of molecular tools to correct disease-causing mutations in mitochondrial DNA for Leber’s Hereditary Optic Neuropathy

$74,980 AUD

01/01/2020 → 31/12/2022

Leber’s hereditary optic neuropathy (LHON) is the most common mitochondrial DNA disease, causing optic nerve degeneration and devastating blindness in…

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…

Investigating cell type specific mitochondrial protein import in health and disease

$11,250 AUD

13/04/2020 → 14/01/2022

Mitochondria are the structures that produce energy for our cells. They also detoxify waste, produce cellular building blocks and regulate…

Identifying pathogenic and protective pathways from blindness in a human retinal model of Leber’s hereditary optic neuropathy

$200,000 AUD

01/01/2020 → 31/12/2021

Mitochondria generate most of the energy required by cells. The human retina is one of the most energy-demanding tissues in…

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…

Differentiate human pluripotent stem cell (hPSC) models of mitochondrial disease to a cardiomyocyte cell fate in order to facilitate preclinical treatment studies and investigation of the underlying cellular mechanisms of disease in a clinically relevant cell type

$15,750 AUD

08/03/2019 → 19/09/2021

Despite a number of treatments showing potential benefit, there are none currently certified for clinical use when it comes to…

Long-read DNA sequencing: Utilizing emerging genomic technologies to improve genetic diagnoses of mitochondrial disease

$147,487 AUD

01/09/2019 → 31/08/2021

During the last decade, a revolution in the techniques used to sequence and analyse our DNA has seen dramatic improvements…

Investigating pathogenesis associated with dysfunctional mitochondrial protein import

$18,000 AUD

01/08/2018 → 01/08/2021

The mitochondrion is the cell’s power plant, where sugars from the food we eat are converted into energy that our…