A seven-year-old’s biggest concern should be scraping their knee in the playground, not losing their sight.
Unfortunately, this is the frightening future facing many of Dr Fred Chen’s patients who have been diagnosed with macular disease before they’ve even left primary school.
That’s why this ophthalmologist from the University of Western Australia is committed to research on finding a cure for the most common macular disease among children: Stargardt disease (also called Stargardt dystrophy or fundus flavimaculatus).
Through this project, we were able to grow retina from skin cells
In 2017, Macular Disease Foundation Australia (MDFA) awarded Dr Chen AU$120,000 to examine the clinical spectrum of Stargardt disease in more than 100 genetically confirmed patients at Lions Eye Institute, Perth.
Applications are now open for the next round of MDFA Research Grants, with a total grant pool of up to $1 million available for projects commencing in 2021.
MDFA has also announced the Grant Family Fund, an additional new stream of grant funding for early-career researchers undertaking ‘blue-sky’ research in the field of macular disease, offering a total grant pool of up to $100,000.
Since 2011, MDFA has invested $4.1 million in world-leading Australian researchers across 21 projects, including Dr Chen’s, which concluded earlier this year.
Dr Chen and his collaborators at the Australian Inherited Retinal Diseases Registry together with Murdoch University identified several novel mutations in their Stargardt patients, who ranged from children as young as seven to people in their 70s.
The vast spectrum of disease, which affects about one in 10,000 people, is due to the large number and varied severities of mutations in a single gene: the ABCA4 gene.
Dr Chen’s team verified the computerpredicted molecular impact of these DNA sequence alterations by examining Stargardt gene processing in the patients’ own skin cells.
This has helped establish a streamlined clinical pathway for assessing and diagnosing patients, providing them with opportunities to be considered for future clinical trials.
Dr Chen and his team have now secured National Health and Medical Research Council (NHMRC) funding to continue this ground-breaking work.
“Through this project, we were able to grow retina from skin cells,” Dr Chen said. “This will enable us to test and modify drugs using cells in the laboratory rather than using an animal model or risking patients’ eyes in the early stages of the development.”
APPLY NOW FOR $1 MILLION FUNDING POOL
Apply now for the next round of MDFA Research Grants Program funding, which has a total grant pool of up to $1 million.
Applications focused on these areas of strategic importance to MDFA are encouraged:
- Dry age-related macular degeneration (pathogenesis; biomarkers/predictors of clinical course; treatments),
- Patient-oriented technological solutions for early detection and home monitoring and management of macular disease (using currently available devices and innovative technologies), and
- Models of care and novel strategies to improve access to treatment and care, including strategies for Closing the Gap in macular health.
Applications are also open for the Grant Family Fund (a total grant pool of up to $100,000), which seeks to challenge current paradigms through creative ‘blue-sky’ research by early-career researchers.
Applications close at 5pm (AEDT) on 31 January 2021. Successful applicants will be announced in May 2021.