General News
6 March, 2026
Grant leads to major funding for rare disease research
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 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.
In 2024, the foundation’s seed funding was used to investigate the way in which these two diseases manifested 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, and Napranum, with the team monitoring a further 10 people and identifying another 416 at risk of MJD or SCA7.
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 was.
He said the funding generated the first detailed descriptions of how MJD and SCA7 presented in 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.”
FNQ Hospital Foundation chief executive officer 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,” she said.
