A $25,000 Far North Queensland Hospital Foundation research grant that generated critical early data has helped secure $9.3 million in national research funding to investigate rare genetic diseases affecting First Nations people in Far North Queensland.
The Foundation‑funded seed funding enabled researchers to expand investigations into Machado‑Joseph Disease (MJD) and Spinocerebellar Ataxia Type 7 (SCA7) – two devastating inherited conditions that cause progressive incoordination, imbalance and visual impairment, leading to loss of mobility, speech and swallow, and ultimately, early death. Both diseases are known to affect families in several remote communities across the Northern Territory and Far North Queensland.
Foundation Grant recipient, University of Melbourne Head of NeuroMovement Disease Laboratory Associate Professor David Szmulewicz said the Foundation’s investment was critical in identifying new patients and starting their treatment program but also in identifying to the National Health and Medical Research Council and Medical Research Future Fund how important the work is.
In 2024, the Foundation’s seed funding was used to investigate the way in which these two diseases manifested (or “phenotype”) in Aboriginal people, something that was previously very poorly understood. It also allowed the establishment of regular clinics in Cairns and Townsville, giving local patients reliable access to specialist care and enabling the gathering of foundational clinical, neurophysiological and oculomotor data.
Clinics in Cairns identified a further 20 patients in Cairns, Townsville, Yarrabah, Weipa, Kowrowa, Atherton, Kuranda, Napranum, with the team monitoring a further 10 people and identifying another 416 at risk of MJD or SCA7.
A/Prof Szmulewicz said the funding generated the first detailed descriptions of how MJD and SCA7 presents in these communities – knowledge that has already begun improving clinical decision‑making, benefitting patients, allied health professionals, GPs, trainees and medical students.
The Machado-Joseph Disease Foundation also supported the clinics.
“Although gene therapies are on their way, unfortunately at this stage, these diseases can’t be cured but once we identify patients, we can start treatment and of course as with any medical condition, the more research we can do, the more hope we can offer people for the future,” A/Prof Szmulewicz said.
“Importantly, these early clinical insights and locally‑run clinics became the evidence base required to attract major national funding. The project team confirmed that the Foundation grant made a significant contribution to securing follow‑on grants.”
Building on the Foundation’s initial investment, A/Prof Szmulewicz and collaborators have now been awarded: $3.15 million (five years) – Medical Research Future Fund (MRFF), $1.2 million over five years to investigate Spinocerebellar ataxias in Indigenous Australians from the National Health and Medical Research Council (NHMRC) and $4.95 million (five years) from the MRFF for Delivering benefit for all Australians in the new era of complete genomics.
Thanks to Foundation support, regular MJD clinics in Cairns and Townsville strengthened professional engagement between MJD specialists and local neurologists, improving clinical care and enabling more accurate diagnoses.
The project also has produced:
- New phenotype information now used in clinical decision‑making
- Patient‑centred fact sheets
- Community presentations and education resources
- Strengthened national and local collaborations
“The research has become a vital lifeline for families seeking answers: patients participating in the study shared challenges such as worsening balance, difficulty walking or driving, vision loss, and deep hope for a cure. This is just the start.”
A/Prof Szmulewicz expressed strong appreciation for the Foundation grant, noting it built the capacity and data needed for national funding and launched a multi‑year research agenda.
“We now have a comprehensive program of research planned for the next five years, funded by both the NHMRC and MRFF, to continue the work started here.”
Foundation CEO Gina Hogan said the results demonstrated the powerful role of locally targeted research funding.
“Research funding is about backing strong ideas with the potential to change lives. In this case, a $25,000 investment from our community has helped unlock more than $9 million in national funding and accelerate vital work into these devastating diseases,” Mrs Hogan said.
“It is a powerful example of how local support can contribute to research that benefits people far beyond our region. We strongly encourage anyone interested in investing in local research and maybe being part of a medical journey like this one, to reach out to the team.”
Quotes from patients: “My balance is getting worse. I really want research to find a way to slow progression.”
“I am frustrated I can’t stand for long periods. I want to be involved in any research or trials for treatments.”
“I am frustrated that I can’t walk or drive and I have vision loss. I want a cure to be found.”
Photo: Assoc Prof Szmulewicz with FNQ patient Simeon Mays.
