Research officer Yolanda Liu from the Kolling Institute’s Meniere Disease and Neuroscience Laboratory
Researchers identify new gene linked to Meniere’s disease In a crucial step towards a better understanding of Meniere’s disease,
Dr Ray Hollings
Dr Hari Prakash Sritharan, Dr Stephen Lyons and Dr Brendan Steinfort
genetic testing. “Many people will say that they don’t have the genetic form of the disease, but this research indicates there are many more people whose disease is directly linked to their genetic make-up,” he said. “This is important as it will inform how we treat the disease going forward, particularly given the different forms of the disease and the exciting advances with gene therapy. “Groundbreaking gene therapy is already being adopted internationally to treat hearing loss, and we anticipate this approach will be developed further to treat Meniere’s disease in the years to come.” The latest research by Jose and his team also identified a connexin (or connecting protein) linked to the GJD3 gene in the tectorial membrane of the organ of Corti – or the hearing organ. “This is the first time that a connexin has been found in this part of the ear, and it may support the view that connexins regulate the microenvironment in the ear and influence hearing,” he said. “We believe the mutated gene is impairing the function of the connexins within the ear and impacting hearing ability.”
The 2025 Dr Ray Hollings and Dr Harry Cumberland Awards The Northern Sydney Local Health District (NSLHD) recently honoured surgical excellence and research at the 2025 Dr Ray Hollings Surgical Excellence Award and Dr Harry Cumberland Travelling Scholarship ceremony. Hosted by the Royal North Shore Hospital Surgical Education, Research, and Training (SERT) Institute and the Department of gastroenterology, the event celebrated the legacy of Dr Ray Hollings and Dr Harry Cumberland, whose combined service of over 100 years transformed surgical outcomes and patient care. The ceremony in the Kolling building auditorium welcomed key leaders, including the NSLHD Chief Executive Anthony Schembri AM, Board member Trevor Danos AM, and Professor Tom Hugh. Aunty Sue Pinckham, NSLHD Cultural Advisor, delivered the Acknowledgement of Country. In his opening address, Anthony Schembri reflected on the impact of Dr Hollings and Dr Cumberland. “Their dedication has shaped the future of surgical excellence at Royal North Shore Hospital,” he said. Both awards were established through generous philanthropic donations from the surgeons they are named after to promote surgical innovation, research and quality improvement. This year, the Dr Ray Hollings Surgical Excellence Award was presented to Dr Stephen Lyons for his study “Opportunistic Diagnosis of Endometriosis at Laparoscopy for Presumptive Acute Appendicitis”, and to Dr Brendan Steinfort for his work “Enhancing Door-to-Puncture Times for Endovascular Thrombectomy: A Measurement and Simulation-Based Improvement Initiative.” The Dr Harry Cumberland Travelling Scholarship was awarded to Dr Hari Prakash Sritharan for his research on “Prediction of Early and Long-Term Mortality After Transcatheter Aortic Valve Implantation in Australia: A Machine Learning-Based Risk Prediction Model.” The SERT team was honoured to have Dr Ray Hollings in attendance to present recipients with their awards.
researchers at the Kolling Institute and the University of Sydney have discovered a gene mutation which could greatly inform future treatment of the disease. Meniere’s is a rare inner ear disease associated with sensorineural hearing loss, vertigo and debilitating tinnitus. There is currently no cure with treatment largely aimed at managing symptoms. Meniere’s can be an inherited condition with approximately 10 per cent of patients having one or more relatives affected by it, but the latest research, led by world leading investigator Professor Jose Antonio Lopez- Escamez, indicates the inherited or genetic form of the disease may be more common than first realised. The team has discovered a rare mutation of the GJD3 gene in both patients with and without a genetic history of the disease. It is the first time this gene has been linked to any disease. More than 400 people with Meniere’s disease were involved in the study, with 18 people or 4.4 per cent of the group found to have the genetic mutation, a statistically significant percentage. Jose said this new understanding could lead to a greater number of patients undergoing
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NSLHD NEWS | ISSUE 4| 14 MARCH 2025
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