Thanks to the Ruth Marie Sampson Foundation’s donation of $1.7 million CERA will establish a dedicated Usher syndrome clinic within the VENTURE inherited retinal disease (IRD) registry. 

Usher syndrome is a rare genetic condition that causes hearing loss from birth and progressive vision loss from the teenage years. 

Vision loss in Usher syndrome is caused by retinitis pigmentosa – a degenerative eye disease that typically begins with night blindness and narrowing peripheral vision during adolescence or early adulthood and can eventually lead to blindness. 

There is currently no cure for Usher syndrome, but cochlear implants and hearing aids can help with hearing loss. 

However, advances in gene therapy research are bringing new hope for treatments that could protect the sight of people living with this condition. 

Connecting research and families 

The new Usher syndrome clinic will create a direct link between scientists developing new treatments and families living with the condition, helping to build the participant registries needed to support future first‑in‑human trials.

The clinic’s research aims to identify new genes and treatment targets, measure the natural history of the disease, validate novel clinical trial outcomes, and explore the psychosocial aspects of Usher syndrome. 

It will connect families with genetic testing and help build VENTURE’s advanced genomic testing capability, supporting families with inconclusive diagnoses. 

The donation will support VENTURE co‑lead Dr Tom Edwards, IRD Research Fellow Dr Sena Gocuk, one new laboratory‑based genomics role and new Ruth Marie Sampson Clinical Research Coordinator, who will work directly with families. 

The team will collaborate closely with Dr Ceecee Britten-Jones at the University of Melbourne, who is conducting major research into the genomics of IRDs.

About VENTURE 

The VENTURE Study is a collaboration between CERA and the University of Melbourne. 

It brings together clinical, genetic and real-world patient data to accelerate the development of sight-saving treatments for IRDs. 

The program seeks to understand how IRDs progress over time, improve support and care for affected individuals and families, and identify people who may be eligible for future clinical trials. 

With almost 800 participants enrolled so far – including around 30 people living with Usher syndrome – VENTURE is generating the critical evidence needed to advance breakthroughs in gene therapy and bring new treatments and potential cures closer to reality. 

Ruth’s legacy 

“Ruth once told us there are ‘very few things more important than eyes’, and the impact of those words lives on,” says Diana Gibson, CERA’s Head of Philanthropy. 

“For families living with Usher syndrome, the impact of this gift extends beyond research outcomes. It also offers something equally important: hope that future generations of children with Usher syndrome may not have to face the prospect of losing their sight.” 

A tremendous boost 

Dr Tom Edwards says the Ruth Marie Sampson Foundation’s support is a tremendous boost for CERA’s Usher syndrome research. 

“We are deeply grateful for the Foundation’s belief in our work,” he says. 

“We are proud to honour Ruth’s legacy through research that has the potential to transform lives. 

“The Foundation’s commitment to eye research will leave a lasting impact on the lives of children and families across Australia.”