Identification of protective pathways in mitochondrial disease: what protects retinal cells from Leber’s hereditary optic neuropathy?
Research Area: Genetics, stem cell biology, bioinformatics
Primary Supervisor: Dr Isabel Lopez Sanchez
Tel: +613 8532 1972 / Email: email@example.com
Project suitable for: Honors, Masters, Medical Student (6-month commitment required)
Essential qualifications: BSc or BSc (Hons)
Start date: first or second semester 2018
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.