Molecular diagnosis of human mitochondrial disease
Researcher: Dr David Stroud
Genes are the molecular blueprint for our bodies. Genes code for proteins, which are the building blocks for muscle, tissue,…
Preventing the transmission of mutant mitochondrial DNA
Researcher: Professor Justin St John
Professor St John’s previous research has produced groundbreaking results in the field of mitochondrial DNA and development. He has extensively…
Families living with rare chronic disease: health related out-of-pocket expenses
Researcher: A/Prof Yvonne Zuryinski
A/Prof Zuryinski is currently the deputy director of the Australian Paediatric Surveillance Unit (APSU), located at Westmead Children’s Hospital. She…
Generation of new mouse models of mitochondrial DNA disease
Researcher: Dr Matthew McKenzie
Dr McKenzie is an Australian Research Council Future Fellow at Monash Institute of Medical Research-Prince Henry’s Institute in Melbourne, Victoria.…
FGF-21 in mitochondrial disease diagnosis and pathophysiology
Researcher: Dr Ryan Davis
Dr Ryan Davis is investigating new diagnostic tools for mitochondrial disease (mito.). Dr Davis is a New South Wales Health…
Treatment trials in the Ndufs6gt/gt mouse model
Researcher: Dr Bi-xia Ke
Dr Ke has completed five years of post-doctoral training, and has published nine peer-reviewed journal articles. Her research focuses on…
Massively Parallel Sequencing to understand the genetic basis of mitochondrial disorders
Scholar: Hayley Mountford
In Australia, on average, one child a week is born with a mitochondrial disorder. For many of these patients the…
The spatiotemporal characterisation of signalling pathways in mammalian mitophagy
Scholar: Benjamin Padman
Ben’s project aims to characterise the physiological relationship between form and function in mitophagy. Mitophagy is a quality control process,…
Gene Discovery and Functional Studies of the Mitochondrial Respiratory Chain Disorders
Scholar: Minal Menezes
Mitochondrial respiratory chain (RC) disorders are among the most common inborn errors of metabolism with an estimated incidence of 1…
MitoSciences Dipstick Reader
The dipstick reader is able to read strips which contain antibodies specific to mitochondrial proteins. By doing so, it is…