Louis Shephard, like all people born with Usher syndrome 1B, has experienced profound hearing loss, balance problems, and a progressive decline in vision throughout his life.

“But my vision is not the only thing about me – it does not define me,” he says.

“What does define me are my personality traits, such as being honest, having integrity, and my hobbies such as playing sports like cricket, or gaming, reading a book.”

Louis received two cochlear implants – one at 11 months old and then one at 12 months old – which today lets him hear the ring of the ball used in blind cricket as it spins down the pitch to him, ready to hit.

These cochlear implants are crucial for Louis to play as he currently has 15 degrees of peripheral vision compared to the standard 180 degrees.

Medical breakthroughs have helped Louis keep his hearing, and new technologies in gene therapies are pointing towards making similar achievements in protecting vision possible.

RNA editing

To create and develop treatments for inherited retinal diseases (IRDs), one of the exciting technologies being used by CERA’s Head of Genetic Engineering Research Associate Professor Rick Liu and his team is the Clustered Regularly Interspaced Short Palindromic Repeat (CRISPR)-Cas System.

CRISPR is a technology that makes it possible to correct genetic errors in RNA molecules – the carriers of genetic information for all living cells in the body.

Now researchers are using this technology in the lab to develop treatments which could one day edit RNA directly in the patient’s retina, correcting faulty genetic messaging and helping retinal cells function properly.

“Finding treatments and cures for inherited retinal diseases, like Usher syndrome, caused by large-sized gene defects, is urgent and at the forefront of our advancement in the field of research,” says Associate Professor Liu.

“We don’t have time to waste – early intervention for inherited retinal diseases before anything happens to the retina of a patient is an important focus.

“CRISPR technology is ready, and now we must continue to advocate for support, raise awareness, and secure further funding to turn this breakthrough into a real solution for those in need.”

Finding treatments

Because it does not permanently alter DNA, RNA-targeted approaches provide a safe way to correct genetic errors. It can also target diseases caused by both large and small genes.

“This means that the treatment won’t be limited by the size of the mutated gene that causes the disease,” Associate Professor Liu says.

“It will significantly advance CERA’s research efforts to delay or cure eye diseases caused by mutations in large genes, such as Usher syndrome.

“With over 300 genes known to be associated with inherited retinal diseases, affecting over 2 million people worldwide, customised gene editing that achieves safe and effective treatment to prevent vision loss is our priority,” he says.

“We are excited by the possibilities CRISPR offers and the real-world impact it could have for individuals like Louis.”

As Louis Shepard says: “It’s amazing that there is now research that could stop people from losing their sight from Usher syndrome – and one day help someone like me have their full 180 degrees of vision.’’