Professor Lauren Ayton and Dr Ceecee Britten-Jones developed the TAGC Ocular Hub, a vital database which can guide new treatments for inherited retinal diseases (IRDs) patients, the leading cause of blindness in working-age Australians.
Co-lead: Professor Lauren Ayton - Department of Optometry and Vision Sciences, Department of Surgery (Ophthalmology), University of Melbourne Centre for Eye Research Australia and Dr Alexis Ceecee Britten-Jones, University of Melbourne
The team worked with 100 people with IRDs who hadn’t received a diagnosis from standard sequencing. The TAGC Ocular Genomics Hub collected new samples from these people, performed whole-genome sequencing and generated high-quality data to pinpoint genetic causes. This data will also guide the discovery of new treatment targets and help connect patients to potential therapies and clinical trials.
Inherited retinal diseases (IRDs) are genetic diseases that cause degeneration of the light-sensitive retinal tissue in the eye, resulting in people gradually losing their vision.
These conditions affect over two million people worldwide, yet only a small proportion of Australians with IRDs have had genetic testing, and the current tests don’t provide answers for everyone. A recent systematic review by Dr Britten-Jones found that for around 4 in 10 people, their diagnosis is still unknown after these standard tests.
Hence, this project set out to increase the proportion of patients receiving a genetic diagnosis, enabling access to emerging gene therapies, and identifying new therapeutic targets.
The team developed local systems to analyse genetic data by using Illumina’s Emedgene platform; created a valuable data resource for eye research; and began to build the foundations for Genovision – a databank that will speed up discoveries, improve collaboration and identify the genetic causes of rare eye diseases.
"This project has allowed us to learn more about the individual genetic differences which cause eye disease and develop cutting-edge research which connects real people to the latest treatments and clinical trials."
Associate Professor Lauren Ayton
The research successfully solved several unresolved IRD cases, already improving solve rates by 14 per cent, with more analysis still to come. This has allowed the team to direct patients towards potential therapies, with further discoveries ongoing.
Several research and commercial partnerships were built during the project with particular interest from pharmaceutical companies in Melbourne’s genomics capabilities. The project was presented in both scientific and investor meetings in America and Canada, and related research featured in five academic journals.
Seven students contributed to the project through semester-long internships. One student was then recruited as a junior variant curator by the project team.
The Ocular Genomics Hub was supported by TAGC’s Clinical Genomics Platform, which utilised whole genome sequencing to identify new genetic testing methods and causative gene mutations.
It also drew upon the Bioinformatics Platform to validate findings and the Health Economics Platform to measure the potential impact on patients – informing approaches to improved reimbursements, regulatory pathways and better clinical outcomes.