INCUBATOR GRANT PROJECT

Genome-wide expression analysis of human induced pluripotent stem cell model of Leber’s Hereditary Optic Neuropathy

Incubator Grants

$25,000 AUD

01/01/2015 → 01/04/2016

Carolyn Sue

Researcher

Dr Raymond Wong

Research Institution

The Centre for Eye Research Australia

Project Name

Genome-wide expression analysis of human induced pluripotent stem cell model of Leber’s Hereditary Optic Neuropathy

Project Details

Dr Wong received funding from the Mito Foundation to research a treatment for Leber’s Hereditary Optic Neuropathy (LHON), one of the most common forms of mitochondrial disease. LHON primarily affects males in their late teens and twenties. It moves quickly, causing irreversible vision loss and eventual blindness.

LHON is caused by a mutation in mitochondrial DNA (mtDNA) which leads to degeneration of retinal ganglion cells (RGC) in the optic nerve. Dr Wong first created a cell model of LHON. As it is difficult to obtain RGC cells directly from a patient, his lab used skin cells from LHON patients. Using induced pluripotent stem cells (iPSC) technology, Dr Wong induced the skin cells to first become stem cells then into RGCs.

After establishing several cells cultures with proven LHON mutations, Dr Wong set out to fix their mitochondria. Using a cytoplasmic hybrid cell (cybrid) technique, a form of gene therapy, his lab was able to replace mutated mitochondria with healthy mitochondria. This sort of cutting-edge gene therapy, once approved by clinical trials, has the potential to rescue the eyesight of thousands of mito patients across the world.

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