Inherited retinal diseases (IRD) are genetic diseases that cause degeneration of the light-sensitive retinal tissue in the eye, resulting in people gradually losing their vision. They affect over two million people worldwide and are the leading cause of blindness in working age adults.

Until recently, there were no treatments available. In 2020 the first ever direct-to-patient gene therapy was approved by the TGA, stopping blindness in its tracks with a one-time subretinal injection.

Now the race is on to ensure more people can benefit from these potentially life changing therapies. But only a small proportion of Australians with inherited retinal diseases have had genetic testing, and the current tests don’t provide answers for everyone.

Associate Professor Lauren Ayton and Dr Ceecee Britten-Jones from the University of Melbourne and Centre for Eye Research Australia are working to address this gap by establishing a comprehensive patient dataset of inherited retinal diseases.

The TAGC Ocular Genotyping Hub will provide valuable information to support the research and development of future therapies, discovering new genes or disease mechanisms that could be potential therapeutic targets.  It will also help detect and monitor potential clinical trial candidates, enabling Australian patients access to the latest in cutting-edge eye research.

This world-leading project will be supported by TAGC’s Clinical Genomics platform, utilising whole genome sequencing to identify and validate new genetic testing methods, and causative gene mutations.

It will also draw on the expertise of the Bioinformatics platform to validate findings, and the Health Economics platform to produce evidence detailing the potential impact of these diseases on patients – leading to improved reimbursement, regulatory pathways, and better clinical care outcomes.