Identification of protective pathways in mitochondrial disease: what protects retinal cells from Leber's hereditary optic neuropathy?

Research Opportunity
PhD, Masters by Research, Honours, Master of Biomedical Science
Number of Honour Places Available
Surgery, Ophthalmology, Royal Victorian Eye and Ear Hospital
Primary Supervisor Email Number Webpage
Dr Isabel Lopez Sanchez Personal web page

Project Details

Project outline: Leber’s hereditary optic neuropathy (LHON) is an inherited mitochondrial disease that can cause sudden onset of blindness predominantly in young men. Amongst people who carry a LHON mitochondrial DNA mutation, some go blind (LHON affected patients) whilst others maintain good vision throughout life (LHON unaffected carriers), indicating that blindness can be prevented. However, no one has investigated the protective factors that prevent vision loss naturally in LHON unaffected carriers.

In this project, we will combine our mitochondrial and stem cell expertise to generate retinal cells using skin cells from LHON affected patients and LHON unaffected carriers. We will then use the latest genomic sequencing technology to identify protective pathways in cells from unaffected LHON carriers.

This project involves the use of a range of techniques in cell biology (cell culture), stem cell biology (cell reprogramming, iPSC generation and differentiation), biochemistry (immunostaining, mitochondrial function assays), molecular biology (DNA extraction, PCR) and bioinformatics.

This project is conducted in Centre for Eye Research Australia, Mitochondria and Neurodegeneration Unit.

School Research Themes


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.



Research Node

Surgery, Ophthalmology, Royal Victorian Eye and Ear Hospital

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