Improving the diagnostic outcomes of patients with mitochondrial disease
- Research Opportunity
- PhD students, Masters by Research, Honours students, Master of Biomedical Science
- Number of Honour Places Available
- Department / Centre
- Biochemistry and Pharmacology
- Bio21 Molecular Science and Biotechnology Institute
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Summary 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.
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
School Research Themes
PhD students, Masters by Research, Honours students, 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
For further information about this research, please contact a supervisor.
Department / Centre
Research Group / Unit / Centre
Research NodeBio21 Molecular Science and Biotechnology Institute
MDHS Research library
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