Professor Robyn Jamieson who heads the Eye Genetics Research Unit was awarded $50,000 from Lindsay & Heather Payne Medical Research Charitable Foundation to aid research into potential gene therapies for inherited eye disease. Prof Jamieson’s research requires specialised expertise in gene therapy and organoids. This grant will ensure that she receives the necessary research support to continue her work.

Inherited retinal diseases (IRDs) usually commence in childhood or teenage years and lead to incurable blindness, caused by variants in over 250 genes. They affect more than 7 million people worldwide and are now more common than diabetes as a cause of blindness in adults. For most affected individuals, there are presently no treatment or preventive measures, and the consequence is an inexorable progression to blindness.

A degeneration of the photoreceptor cells in the retina causes these conditions, and it is here where the Eye Genetics Research Unit hopes to cure IRDs. Working with the Stem Cell and Organoid Facility, they have used induced pluripotent stem cells (iPSCs), being stem cells gathered from tissue samples, to create retinal organoids. Utilising gene editing and AAV-viral vectors to introduce and treat mutations in retinal organoids, Prof Jamieson hopes to restore the function of photoreceptor cells.

Children’s Medical Research Institute would like to thank Lindsay & Heather Payne Medical Research Charitable Foundation for this generous gift and their support in bringing the Eye Genetics Research Unit work once step closer to treating blindness.