Leigh Syndrome International Consortium
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
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
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
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
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
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
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
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
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
Researcher: Sylvie Callegari
To ensure the efficient supply of energy, mitochondria must maintain a production line of energy-generating machines that are each made…