Children’s Medical Research Institute (CMRI) in Sydney Australia is pleased to announce a collaborative partnership with Alia Therapeutics in Italy to focus on innovative CRISPR gene therapy research for a devastating condition which causes children to lose both their hearing and their eyesight.

Usher Syndrome is a genetic condition where children are born with impaired hearing. As they grow older, they then experience progressive vision loss. There are three types of this condition and this new project will target those with Usher 2A – which is one of the most common forms of the syndrome.

The project will be led by Dr Anai Gonzalez Cordero, who heads the Stem Cell Medicine Group at CMRI. Dr Cordero moved from University College London to Sydney in 2019 to establish stem cell research at CMRI. In her lab, she transforms small samples of skin or blood into stem cells and then instructs the stem cells to form “mini organs’’ or organoids so that researchers can better study the causes of human diseases and how to treat them.

Alia Therapeutics approached Dr Cordero because of her world-renowned expertise in growing stem cells and eye organoids generated from patients with Usher2A.

"This technology combined with the infrastructure and gene therapy expertise in place at CMRI are crucial for the development and success of the project ’’ Dr Cordero said “I’m really confident about this work. We also hope to be able to work on more types of Usher in the future, if we get more funding.’’

Alia Therapeutics is an Italian biotech start-up whose mission is to develop innovative treatments for incurable diseases using gene therapy.

Alia’s CEO, Gabriella Camboni, said they chose to work with CMRI because of its world-leading reputation in stem cells and organoid technology and because Dr Cordero’s lab was one of the few in the world doing this work.

Natalie Mitchell says that every day since her three-year-old daughter was diagnosed with Usher 2A has involved “constant grieving’’. Zarah has already experienced hearing loss and they are preparing her for vision loss.

“We know what is going to happen, but it's all a waiting game as we don't know when or how it will affect our daughter, as each case is different. Research is extremely important to our family. Without it we may never have found out what Usher Syndrome is or what type our daughter has. Knowing what she has through research and genetic testing has helped us by preparing for and bettering her future.

“Investing in research not only gives those with Usher Syndrome hope, but it also gives hope to their families and loved ones. There are so many researchers who dedicate their life’s work to finding cures so people of all ages can have the best quality of life possible. We can only hope this will be the case for our family and many others in our situation.’’