Advances in gene therapy are bringing new hope of treating eye diseases that have for many years been considered untreatable.

Until recently, someone with an inherited retinal disease like retinitis pigmentosa or Stargardt’s disease, or a patient with extensive optic nerve damage from glaucoma, was told there was nothing that could be done to help them.

But now around the world there are several active clinical trials for ocular gene therapies which could potentially stop vision loss from progressing – or even restore some sight.

Dr Tom Edwards, a clinician-scientist and a vitreoretinal surgeon, was involved in a world-first gene therapy trial at the University of Oxford and is now continuing his research at CERA with the hope of helping Australian patients.

What is gene therapy?

In its simplest form, gene therapy involves using a modified virus to deliver a correct copy of a gene into the eye to make up for the lost function caused by genetic mistakes in the patient’s own cells.

Sometimes it also involves inserting a gene that is known to protect cells from degeneration and disease.

CERA is conducting research to develop gene therapies for inherited retinal diseases and glaucoma, and also to better understand the genes that cause these diseases.

Dr Edwards says CERA’s co-location and partnership with the Royal Victorian Eye and Ear Hospital has been critical to making this bench-to-bedside research program possible. And now, a new Ocular Genetics Clinic at the hospital is bringing patients and researchers closer together.

“It’s the only clinic in Australia that has an ophthalmologist, a clinical geneticist, a genetic counsellor and a specialised genetics orthoptist located together,” says Dr Edwards.

“A major strength is that patients seen in the Ocular Genetics Clinic can be linked to researchers at CERA who are studying their specific genetic eye disease,” he says. “There are not many places where patients would have such direct access to researchers.”

The clinic, along with a new natural history study of inherited retinal diseases between CERA and the University of Melbourne, will be key avenues for gaining a better understanding of genetic eye diseases in Australia.

Combined expertise

Dr Edwards says the overall goal is to combine this expertise and infrastructure to develop a Centre for Ocular Gene and Cell Therapy in Melbourne.

“More people could receive clinical and genetic testing for inherited eye diseases,’’ he says.

“It would give Australians access to new gene therapies and increase the pool of eligible patients for local clinical trials.

“Establishing a centre that can handle all these activities, and do it to a gold-standard level, is what we want to achieve.”

Dr Edwards also acknowledges the importance of developing CERA’s emerging researchers, who will continue this work into the future.

“One of our researchers, Dr Sloan Wang, recently had the opportunity to visit the laboratory in Oxford where I did my fellowship, after being awarded a travelling scholarship by the Company of Biologists,” he says.

“The MacLaren group at the Nuffield Laboratory of Ophthalmology are world leaders in retinal gene therapy so it was a hugely valuable experience for Sloan.”

Dr Edwards’ research is supported by the Marjorie M Kingston Trust and the Annemarie Mankiewicz-Zelkin Fellowship Fund.