Kids with Inherited Retinal Diseases (IRDs) like Arato will have better access to targeted diagnosis and therapies thanks to a new comprehensive analysis of the impacts of IRDs on patients and families being built with funding from a National Health and Medical Research Council (NHMRC) Partnerships Projects grant.
Head of the Eye Genetics Research Unit at Children’s Medical Research Institute (CMRI), Sydney Children’s Hospitals Network (SCHN) and Save Sight Institute (SSI), University of Sydney Professor Robyn Jamieson, says: “Understanding the impact of genetic variants on patients and families and developing and delivering therapies takes time. This project will allow us to gather information about the impacts of IRDs on patients, empowering the delivery of targeted diagnoses and therapies.”
The 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 genetic diagnosis and targeted therapies into clinical practice and policy, thereby improving the health and life of patients with IRDs and their carers. The CMRI, SCHN and SSI Eye Genetics Research team will be working closely with investigators from Macquarie University’s GenIMPACT, University of Sydney, University of WA, University of Melbourne and University of Auckland. Local experts working on the project also include Professor John Grigg, Dr Alan Ma, Clinical Professor Bruce Bennetts, Professor Matthew Simunovic, Dr Benjamin Nash, Dr Elisa Cornish and Emma Hackett.
IRDs are a group of diseases leading to incurable blindness. With advancements in genomic testing, the diagnostic rate of IRDs has risen from less than 10 percent to about 50 to 60 percent. A precise diagnosis enables patients to access targeted therapies and clinical trials, avoids contraindicated treatments and facilitates access to other management technologies.
However, access to targeted therapies and development of these therapies is contingent on a molecular diagnosis through genomic and functional genomic testing, where funding for these investigations is not always available.
“The 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,” says Director of GenIMPACT, Professor Deborah Schofield.
The new NHMRC grant will be accompanied by nearly $3.4 million in cash and in-kind contributions from 17 partners spanning Australia and New Zealand. In addition to SCHN, the healthcare partners include: South Eastern Sydney Local Health District, The Royal Victorian Eye and Ear 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. The industry partnerships helping the team to realise this much needed research include Illumina Australia, Janssen Australia, Belite Bio, PYC Therapeutics, and Nacuity Pharmaceuticals.