National collaboration secures $1.5 million for retinal disease research

National collaboration secures $1.5 million for retinal disease research

Child patient getting their eyes tested

A national collaboration led by the Macquarie University GenIMPACT team have received $1.5 million for an NHMRC Partnership Grant to investigate the impacts of current genetic therapies for Inherited Retinal Diseases (IRDs).

The project titled ‘Translation of precision medicine into clinics for genetic blindness: from diagnosis to clinical management and therapies’, will estimate the national social and economic impacts of specific IRDs and the cost effectiveness of genetic diagnosis and using genetic therapies. It hopes to support our understanding in how these therapies are ultimately translated into clinical practice and policy to help those with IRDs and their families.

Professor Robyn Jamieson
Professor Robyn Jamieson, Head of the Eye Genetics Research Unit at Kids Research, part of Sydney Children’s Hospitals Network (SCHN), Children’s Medical Research Institute (CMRI), and Save Sight institute (University of Sydney) is one of the lead investigators on the project.

“This project is really helping new diagnoses and genetic therapies for patients with inherited retinal diseases,” Professor Jamieson said.

“This partnership grant aims to understand the cost of all things involved, balancing the benefits we are getting from these diagnoses, so these patients get to access advanced and other precision therapy opportunities that become available.”

Alongside Professor Jamieson, leading researchers from SCHN and CMRI specialised in genomics will be working closely with investigators from the Macquarie University GenIMPACT team, University of Sydney, University of WA, University of Melbourne and University of Auckland. These local experts include Professor John Grigg, Dr Alan Ma, Clinical Professor Bruce Bennetts, Professor Matthew Simunovic, Dr Benjamin Nash, Dr Elisa Cornish and Emma Hackett.

The NHMRC Partnership Grant will also be accompanied by nearly $3.4 million from contributing healthcare, industry and philanthropic partners across Australia and New Zealand. Such funding success heralds a new era in genomics research, where the impact of these novel therapies is being investigated.

Professor Deborah Schofield, Project Lead and Director of GenIMPACT at Macquarie University, adds how this project addresses the economic evidence required to make genomic medicine accessible to those who need it.

“Our proposal responds to these priorities by capturing robust data about the cost and quality of life associated with IRDs and use of genomics 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,” said Professor Schofield.

SCHN is a proven leader in ocular genomic therapies, working closely with CMRI and the Save Sight Institute, University of Sydney (USyd) in the Ocular Gene and Cell Therapies Australia program.

“Our multidisciplinary teams at SCHN, CMRI and USyd work together and are able to get a clinical diagnosis for patients to develop new genetic therapies, especially for those who don’t have treatment options,” said Professor Jamieson.

This funding success is a testament to the research achievements these national collaborations bring, supporting how we deliver novel genetic therapies to patients with genetic disorders.


Partner universities are The University of Sydney, University of WA, University of Melbourne, and University of Auckland. Healthcare partners are 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. 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. Industry partners are Illumina Australia, Janssen Australia, Belite Bio, PYC Therapeutics, and Nacuity Pharmaceuticals.