“We are thrilled to be working with Illumina and TAGC to help develop other avenues for advanced testing for these people, in the hope that an answer may be achievable,” says Professor Lauren Ayton AM, who co-leads the project at CERA alongside Dr Tom Edwards.

Expanding view

“The VENTURE registry is driving inherited retinal disease research, giving access to research opportunities for individuals with inherited retinal diseases.”

“With emerging treatments like gene therapy in the pipeline for people with an IRD, it is now more important than ever to solve the mystery for those people for whom standard testing has not revealed the cause of their vision loss.”

VENTURE works alongside people with IRDs and their families to track the progress of their vision loss, as well as discovering if they are suitable for new treatments and clinical trials as they become available.

Under the leadership of ocular genetics expert Dr Alexis Ceecee Britten-Jones from the University of Melbourne, some VENTURE participants now have access to advanced forms of genetic testing to try and solve more complicated cases.

This testing is showing researchers and clinicians how to best use new genetic testing technologies for IRDs.

Professor Ayton says a specific diagnosis can also be very reassuring for a person with an inherited retinal disease.

“The value of genetic testing cannot be overstated.”

Of great importance to the team is a collaborative approach to research with consumers, clinicians, researchers and industry that is driven towards better outcomes for people living with vision loss and blindness.

“We work incredibly closely with community groups like Retina Australia, UsherKids Australia and Blind Citizens Australia to make sure our work is relevant and needed for the community,” says Professor Ayton.

“We also work closely with scientific and clinical colleagues across the globe to ensure the research has the highest impact.”

Professor Ayton is a member of the Retina International Scientific and Medical Advisory Board, and CERA is also a site for the international Foundation Fighting Blindness clinical consortium.

Getting involved with VENTURE

“We are keen to find more participants for clinical trials quickly, and to also know more about IRDs in this era of possible treatment,” says Professor Ayton.

VENTURE has already been a valuable program for participants – from people who have answered surveys to those participating in more involved research.

“We have been able to offer genetic testing to many people, working in partnership with services such as the Ocular Genetics Clinic at the Royal Victorian Eye and Ear Hospital,” says Professor Ayton.

“I would love to see a world where these conditions are considered curable, but we need more support to do that,” explains Professor Ayton.

“I’m thrilled to see the impact of our research to date.”