The Lions Eye Institute’s race to cure inherited retinal diseases, the leading cause of childhood blindness in Australia, is being supported by the incredible work of Telethon.
Finding new treatments for Usher syndrome in a world first
Dr Livia Carvalho has made it her life’s mission to discover treatments that will help the many children and adults with inherited retinal diseases. In collaboration with researchers at the Lions Eye Institute and overseas, Dr Carvalho and her team are developing new treatments for Usher syndrome.
Usher syndrome is the most common genetic cause of combined deafness and blindness. Children with Usher syndrome are born deaf, may have balance issues, and face becoming legally blind in their 20s or 30s. There are currently no treatments for the disease.
“If testing proves successful it could lead to treatments for other types of Usher syndrome, including USH1D,” said Dr Carvalho. “By developing treatments now, we could be only a few years away from saving the sight of children with this eye disease.” Dr Carvalho is a gene therapy expert and is leading an investigation to find a cure for two forms of Usher syndrome, USH1D and USH1F. Dr Carvalho believes the gene therapy she has developed to treat USH1F is highly promising. A recent grant from Telethon will allow the team to validate their gene therapy treatment through a comprehensive testing regime.
Bringing hope to families
2020 Little Telethon Star Eamon Doak, and his brother Kealan, both have USH1D. They are patients of Associate Professor Fred Chen at the Lions Eye Institute. A recent donation from Mrs Rhonda Wyllie via Telethon will fund a life changing piece of medical equipment known as a stem cell robot, the first of its kind for Western Australia. The stem cell robot will allow researchers at the Lions Eye Institute to potentially save the sight of hundreds of children by accelerating the development of therapies for patients with inherited retinal diseases such as retinitis pigmentosa, Usher syndrome and Stargardt disease.
“Having a stem cell robot will be a game changer for our research,” said Associate Professor Chen. “It will allow researchers to develop treatments for myriads of childhood diseases including cancer, diabetes and inherited diseases like cystic fibrosis and inherited retinal diseases.”
The stem cell robot will also help Associate Professor Chen, Dr Carvalho and their teams to develop the treatments Eamon and Kealan need to save their sight. “It is critical we develop treatments for them now, to stop the degeneration of their retina,” Associate Professor Chen said. “The robot will operate 24 hours a day, 7 days a week. We estimate we are five years away from crucial scientific discoveries that could save Eamon and Kealan’s sight.”
The Lions Eye Institute’s research into Usher syndrome has been made possible thanks to the support of Telethon and the wider Western Australian community. “We are so very grateful to everyone who contributes to Telethon,” said Dr Carvalho.