Improving the diagnostic outcomes of patients with mitochondrial disease

Research Opportunity
PhD, Masters by Research, Honours, Master of Biomedical Science
Number of Honour Places Available
Biochemistry and Molecular Biology
Bio21 Molecular Science and Biotechnology Institute
Primary Supervisor Email Number Webpage
Dr David Stroud Personal web page

Project Details

Genetic disorders affecting mitochondrial OXPHOS constitute the most common form of inherited metabolic disease, affecting ~1/5000 births. There are few, if any proven treatments. The diagnosis rate for mitochondrial disease is only ~60% and those lucky enough to receive a molecular diagnosis often wait months or years. Our lab is developing the use of computational proteomics to complement the existing tools in the diagnosis of mitochondrial disease.

This project employs extensive quantitative proteomics tools, as well as mammalian cell culture of patient and gene-edited hESC cells, analysis of human tissue samples, bioinformatics and computational biology, and metabolic and enzymatic measurments. Discoveries are typically complemented by traditional biochemical and molecular biology studies to determine the roles of affected proteins in mitochondrial function, thus the project will also features classical molecular techniques such as mammalian cell culture, Blue-Native (BN) PAGE, western blotting, and metabolic measurements such as oxygen consumption and ATP production.

Faculty Research Themes

Child Health

School Research Themes

Cardio-Respiratory, Systems Biology, Molecular Mechanisms of Disease

Research Opportunities

PhD, Masters by Research, Honours, Master of Biomedical Science
Students who are interested in joining this project will need to consider their elegibility as well as other requirements before contacting the supervisor of this research

Graduate Research application

Honours application

Key Contact

For further information about this research, please contact a supervisor.


Biochemistry and Molecular Biology

Research Group / Unit / Centre

Stroud laboratory: Mitochondrial Systems Biology

Research Node

Bio21 Molecular Science and Biotechnology Institute

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