Australian researchers hope to come on sight with new gene therapy

Australian researchers are developing a new gene therapy that they hope will “turn on the eyes” by regenerating photosensitive photoreceptor cells in the retina at the back of the eye.

Billy Morton, the face of this year’s Hope Day face, was first diagnosed with choroideremia, a rare genetic condition in his early teens and experienced progressive loss of night vision and peripheral. He hopes gene therapy could one day make a difference for people with the same disease. Image Credit: Center for Eye Research Australia

The research of Dr Raymond Wong and his cell reprogramming team at the Center for Eye Research Australia is the focus of this year’s Hope in Sight Giving Day..

Organized to coincide with World Sight Day on October 14, 2021, the day aims to raise awareness of vision research and raise funds to develop and test pioneering gene therapies in Australia.

“Photoreceptors are tiny retinal cells at the back of the eye, which pick up light and send the signal from the retina to the brain, allowing us to see,” says Dr Wong.

“They rely on a series of complex genetic signals to function properly. When these signals fail or the cell is damaged, irreversible vision loss and blindness can occur.

“Currently, there is no cure for blindness once the photoreceptors are lost, but my research aims to change that. “

Dr. Wong’s research aims to help 190 million people worldwide with diseases where death of photoreceptors leads to blindness. These include rare inherited retinal diseases like retinitis pigmentosa or Stargardt’s disease and more common conditions like age-related macular degeneration.

Dr Wong’s team mapped the precise genetic profile that allows photoreceptors to function properly.

They are now trying to “reprogram” retinal stem cells, called Muller’s glial cells, and turn them into photoreceptors to restore sight.

Currently, research is at the preclinical stage and is being tested on cells in the laboratory. In the long term, they hope their research will lead to gene therapies to treat blindness.

A business student in Melbourne and passionate about long-distance running, Billy Morton is the face of this year’s Hope in Sight Giving Day campaign. Billy, 22, was first diagnosed with choroideremia, a rare genetic condition in his early teens and suffered progressive loss of night and peripheral vision.

He now lives with an uncertain prognosis – and doesn’t know how much vision he will eventually lose or how quickly the disease will progress.

When Billy was first diagnosed there was no prospect of a cure for his condition, but over the past decade advances in gene therapy research have given new hope.

“The research in gene therapy is incredibly exciting and it gives me hope and optimism that it will make a difference.

“Right now I’m making the most of every day and enjoying what I have without worrying about the things I can’t control.

“I hope there will be some research that is helpful to me, but if not, it’s exciting to know that it could make a difference to other people. “

CERA’s research to combat irreversible blindness includes:

  • Development of gene therapy for a rare form of retinitis pigmentosa
  • Research into gene therapy to repair optic nerve damage in glaucoma
  • A natural history study to understand how inherited retinal diseases evolve and identify those suitable for clinical trials, and
  • Australia’s first clinical trial of gene therapy to treat age-related dry macular degeneration.

Every dollar donated to CERA research on World Sight Day will be tripled thanks to generous matching donations from the National Stem Cell Foundation of Australia and the Center for Eye Research Australia Foundation.

“Supporting Australian stem cell researchers in the search for cures for still incurable diseases is at the heart of our mission,” said National Stem Cell Foundation of Australia CEO Graeme Mehegan.

Dr Wong and his colleagues at CERA have an exceptional scientific record. It is a pleasure to work with them to give real hope to people living with vision loss on this World Sight Day.

Graeme Mehegan, Managing Director, National Stem Cell Foundation of Australia

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