Macquarie University: GenIMPACT Receives $1.5 Million NHMRC Grant for Retinal Disease Research
Inherited retinal diseases are a diverse category of genetic eye conditions marked by retinal malfunction and degeneration, which frequently leads to progressive vision loss and blindness. These eye disorders impact around one in 1,000 people and are currently the primary cause of blindness in working-age adults in Australia.
This collaborative project aims to estimate the national social and economic impacts of specific IRDs and the cost effectiveness of using genomic and functional genomic investigations and precision medicine. This will support translating these targeted therapies into clinical practice and policy, thereby improving the health and life of patients with IRDs and their carers. GenIMPACT will be working closely with investigators from The University of Sydney, Children’s Medical Research Institute, Save Sight Institute, University of Western Australia, University of Melbourne, and University of Auckland.
“Despite the large number of patients suffering from IRDs, there is little robust Australian data on the cost and quality of life of people impacted by IRDs, particularly for specific subtypes, no study of cost-effectiveness of genomic investigations, and few relevant international studies, all of which have significant limitations,” said Professor Deborah Schofield, Director of GenIMPACT and the new project’s lead Chief Investigator.
“This gap between the promise of genomic medicine and the economic evidence required to make it accessible to those who need it presents a substantial roadblock for new targeted therapies. Our proposal responds to these priorities by capturing robust data about the cost and quality of life associated with IRDs and use of genomic sequencing and functional genomic studies in a clinical cohort, to develop a world first model to provide critical evidence of the cost-effectiveness of genomic medicine for IRDs, and data to support access to targeted management.”
The new NHMRC grant will be accompanied by nearly $3.4 million in cash and in-kind contributions from 18 partners spanning Australia and New Zealand. Our healthcare partners include: Sydney Children’s Hospitals Network, South Eastern Local Health District, The Royal Victorian Ear and Eye Hospital, Lions Eye Institute, Te Whatu Ora Te Toka Tumai Auckland, Royal Australian and New Zealand College of Ophthalmologists, and the Agency for Clinical Innovation. Our consumer vision and philanthropic partners are: Cure Blindness Australia, Genetic Alliance Australia, Guide Dogs NSW/ACT, Retina Australia, The SA and GJ Ombler Charitable Trust, and Vision Australia. Our industry partnerships helping us to realise our important research are Illumina Australia, Janssen Australia, Belite Bio, PYC Therapeutics, and Nacuity Pharmaceuticals.
The project will harness well-established partnerships between research colleagues, clinical services, industry professionals, government and consumer organisations to turn research into real-life impact for patients.
This project aims to build on the team’s prior work to provide evidence to support access to genomic investigation and targeted therapies for patients with genetic disorders.
Deputy Vice-Chancellor (Research) Professor Sakkie Pretorius congratulated the researchers on being awarded a prestigious NHMRC Partnership Grant.
“Precision medicine promises to transform the future of healthcare, and this collaborative project is at the cutting edge of research into the possibilities of applying these new technologies to a life-changing condition impacting many Australians.
“Our Macquarie researchers are joining forces with numerous partners to translate evidence into real-world solutions that will improve the lives of people affected by Inherited Retinal Diseases.”