Grant success for retinal disease project

The Advanced Genomics Collaboration (TAGC) has awarded funding to a new Innovation Project led by A/Prof Lauren Ayton and Dr Alexis "Ceecee" Britten-Jones from the Department of Optometry and Vision Sciences and Centre for Eye Research Australia.

Inherited retinal diseases (IRD) are genetic diseases that result in gradual vision loss, affecting over two million people worldwide, and is the most common cause of blindness in working age adults. There were no treatments available for this degenerative disease until 2020, when novel direct-to-patient gene therapy was approved by the Therapeutic Goods Association (TGA). This one-time injection into the eye is able to stop light-sensitive retinal tissue degeneration.

Whilst the race is on to ensure more people can benefit from these potentially life-changing therapies, only a small proportion of Australians with IRD have been genetically tested, and the current tests don't provide answers to everyone. Lauren and Ceecee aim to address this disparity and improve clinical care outcomes through establishing a comprehensive dataset of IRD's.

They aim to utilise valuable information from the TAGC Ocular Genotype Hub to support the research and development of future therapies, discover new genes, or disease mechanisms that could be potential therapeutic targets. Additionally, this information will help detect and monitor potential clinical trial candidates, enabling Australian patients access to the latest in cutting-edge research.This world-leading project will be supported by TAGC’s Clinical Genomics platform, utilising genomic techniques to identify and validate new genetic testing methods, and underlying gene mutations contributing to IRDs. It will also draw on the expertise of the Bioinformatics platform to confirm these findings, and the Health Economics platform to produce evidence that describes the potential impact of these diseases on patients.

Lauren and Ceecee