07/09/2026
Media Release
World-First Australian Genetic Study Offers Hope for Families Living with Rare and Devastating Brain Disease
Groundbreaking Macquarie University research could transform the understanding of one of the world's rarest and most devastating brain diseases
A world-first Australian research project is set to transform the understanding of one of the world's rarest and most devastating brain diseases, with researchers launching the first-ever genetic study of Moyamoya Disease in the country thanks to charity Moyamoya Australia.
Every year, babies, children and adults around the world suffer life-changing strokes, permanent brain injury and, in some cases, lose their lives to Moyamoya Disease. Despite advances in life-saving surgery, researchers still do not know why the disease develops.
Led by internationally renowned neurosurgeon Professor Marcus Stoodley at Macquarie University, the groundbreaking research aims to uncover the genetic causes of Moyamoya Disease in patients from Australia and New Zealand for the first time, offering hope that researchers may finally answer one of medicine's biggest unanswered questions.
While genetic research has historically focused on Japanese and East Asian populations, where Moyamoya Disease is more prevalent, clinicians have long recognised that the disease often presents differently in Western patients. Although smaller studies have been undertaken internationally, the underlying cause of Moyamoya Disease remains unknown.
This world-first Australian-led study is the first dedicated genetic investigation of Moyamoya Disease in patients from Australia and New Zealand and aims to uncover the genetic clues that have remained elusive for decades, with the ultimate goal of improving diagnosis, treatment and outcomes for future generations.
The catalyst for the research has been the many generous donors supporting Moyamoya Australia, through their generosity, over $100,000 has already been raised to launch the first stage of the study.
Moyamoya Disease is a rare, progressive and potentially fatal cerebrovascular disease that causes the arteries supplying blood to the brain to progressively narrow, dramatically increasing the risk of stroke, brain haemorrhage, seizures, permanent neurological disability and death.
Although complex cerebral bypass surgery can restore blood flow to the brain and significantly reduce the risk of future strokes, researchers still do not know what causes the disease.
Professor Marcus Stoodley said the research represented an important opportunity to answer one of the biggest unanswered questions surrounding Moyamoya Disease.
"This is the world's first dedicated genetic study investigating Moyamoya Disease in Australian and New Zealander populations," Professor Stoodley said.
"If we can identify the genetic factors responsible, we have the potential to improve diagnosis, identify people at risk earlier, better understand the disease process and ultimately improve outcomes for patients around the world."
The research is already underway, with DNA collected from seven patients across Australia and New Zealand, including the study's first participant, long-term Moyamoya Warrior Robert Finn.
Professor Stoodley said expanding the research nationally is now the priority.
"Because Moyamoya Disease is so rare, every participant strengthens the research. We are encouraging patients and neurosurgeons from across Australia and New Zealand to become involved so we can build a comprehensive genetic database that has the potential to benefit patients worldwide."
Moyamoya Australia Founder Nicola Baker said the research represented a defining moment for not only her personally, but families who have spent years searching for answers.
Ms Baker founded the charity after her son Jed suffered multiple strokes as a baby before eventually being diagnosed with Moyamoya Disease.
"Watching your baby suffer repeated strokes and not knowing why is every parent's worst nightmare," Ms Baker said.
"When Jed became ill, we discovered just how little was known about Moyamoya Disease and how difficult it could be for families to find answers. We were incredibly fortunate that Jed's paediatrician knew of Professor Stoodley and his expertise in treating this disease. Sadly, not every family is that fortunate."
"That's why this research is so important. Families living with Moyamoya Disease have been asking 'why' for decades. This isn't just about our family anymore. It's about every family living with Moyamoya Disease and every family that will face this diagnosis in the future. This world-first study gives us genuine hope that we are finally getting closer to those answers."
Long-term Moyamoya Warrior Robert Finn, who became the first participant in the study, said he hoped the research would answer the questions the Moyamoya community had been asking for decades.
"I'm like Nicola and so many others in the Moyamoya community - we just want answers," Mr Finn said.
"When I was 23, Professor Stoodley told us that without surgery I might not make it past my 24th birthday. A week later I had my first operation. I've just celebrated my 36th birthday. That's 12 years I never thought I'd have."
"If my DNA can help researchers understand why this disease happens and save someone else's life one day, then every test is worth it."
Canberra Moyamoya Warrior Harrison Wese, who was diagnosed in 2024 and recently completed Project 150, running more than 150 kilometres while raising money for the research, said he hoped the study would help protect future generations.
"I want to give hope to other families going through this," Mr Wese said.
"I'm excited researchers are finally trying to get to the bottom of it."
"One day I'd like to have children of my own. I want to know whether I could pass this on.”
Researchers and Moyamoya Australia are now calling on people diagnosed with Moyamoya Disease throughout Australia and New Zealand, together with their treating neurosurgeons, to become part of the landmark study.
Additional fundraising will enable the research to expand nationally, increasing the number of participants and accelerating discoveries that could improve diagnosis, transform treatment pathways and ultimately save lives.
For the first time, Australian families are not simply living with Moyamoya Disease - they are helping to solve it.
Donate here: https://moyamoyaaustralia.org.au/donate/
Macquarie University Danae Jones Consulting
