‘It means everything’: How Melbourne scientists are fighting to save Poppy’s sight

When Poppy Stevens was just a few months old, she received a devastating diagnosis after failing her newborn hearing test. Genetic testing later confirmed she had Usher syndrome, a condition that could lead to progressive vision loss. Her mother, Ali Stevens, described the moment as a "second wave of devastation." Living in Melbourne's south-east, Ali expressed deep concerns about Poppy's future, questioning whether she would be able to work, drive, form a family, or live independently. Now five years old, Poppy uses a hearing aid and is the focus of efforts by Melbourne-based researchers aiming to find a cure for the vision loss associated with Usher syndrome. Usher syndrome is the main cause of deafblindness in Australia, affecting approximately one in 6000 children. Typically, affected individuals are born with hearing loss and experience progressive vision loss during adolescence and early adulthood. At the Centre for Eye Research Australia, Professor Keith Martin and Professor Guei-Sheung (Rick) Liu are developing a treatment known as EDITRA. This treatment targets the specific genetic error causing Poppy's variant of Usher syndrome, type 2A. Developed by the centre's new spin-off company, Adara Bio, EDITRA addresses a key challenge in treating Usher syndrome, current gene therapies cannot accommodate the size of the mutated genes involved. Instead of replacing the entire defective gene, EDITRA modifies the cell's genetic instructions, specifically targeting the RNA. This approach allows the treatment to be delivered via a single modified virus injected directly into the eye. As part of the upcoming Melbourne Assembly civic forum, discussions will include strategies to sustain and enhance Melbourne's position as a global leader in medical research and innovation. Professor Martin, who also serves as chair of the Association of Australian Medical Research Institutes Victoria, relocated to Melbourne from the University of Cambridge seven years ago due to the city's robust biotech ecosystem. He emphasized that Melbourne's concentration of medical research institutions, universities, industries, and startups makes it a competitive destination compared to cities like Boston and London. These institutions employ over 7500 people and contribute more than $600 million annually to the state's economy, surpassing the economic impact of the Australian Open and the Grand Prix. Despite these achievements, Martin cautioned that Victoria faces challenges in maintaining its leadership in biotechnology without increased investment and local manufacturing capabilities. He noted a potential complacency among the Victorian government regarding the region's continued global standing. Without additional financial support, ten of the state's fourteen independent medical research institutes could face closure by 2030. Funding for these institutes comes from federal grants, philanthropy, commercial ventures, and state contributions. Last month, it was announced that the 66-year-old Hudson Institute of Medical Research would cease independent operations and reduce its workforce by at least 75 positions. In response, Victorian Minister for Medical Research Anthony Carbines stated that the government had boosted funding for the state's research institutes by $24.6 million over two years.