Leigh Syndrome International Consortium

$300,000 AUD

01/07/2019 → 30/06/2025

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

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

$18,000 AUD

10/04/2020 → 24/02/2023

Scholar: Linden Muellner-Wong

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

Researcher: Sandy Hung

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

Investigating cell type specific mitochondrial protein import in health and disease

$11,250 AUD

13/04/2020 → 14/01/2022

Scholar: Alexander Anderson

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

Researcher: Dr Isabel Lopez Sanchez

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

Researcher: Professor Carolyn Sue

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

Scholar: Cameron McKnight

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

Researcher: Dr Ann E. Frazier

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

Scholar: Thomas Daniel Jackson

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

Defining ubiquitin quality control systems for mitochondrial biogenesis

$25,000 AUD

01/07/2020 → 30/06/2021

Researcher: Sylvie Callegari

To ensure the efficient supply of energy, mitochondria must maintain a production line of energy-generating machines that are each made…