National Collaboration Strengthens Rare Disease Research with New Bone Marrow Failure Biobank at Monash
A major national collaboration between Monash University and Maddie Riewoldt’s Vision has delivered a key research infrastructure milestone with the establishment of the Australian Marrow Failure Biobank (AMFB), a purpose-built biobank to accelerate research into Bone Marrow Failure Syndromes (BMFS). The first sample has now been collected, marking the start of this nationally significant resource.
BMFS are rare, often inherited conditions in which the bone marrow fails to produce enough healthy blood cells. Affecting children and young adults disproportionately, these life-threatening syndromes come with a high risk of cancer, chronic complications, and shortened life expectancy.
Housed within Biobanking Victoria at Monash University, one of Australia’s leading biospecimen repositories, the AMFB is a nationally coordinated research platform that will integrate biological samples with clinical data from the Aplastic Anaemia and Other Bone Marrow Failure Syndromes Registry (AAR). Together, they form a comprehensive infrastructure for discovery, enabling new research into the causes, treatments, and potential cures for BMFS.
The project brings together experts from across Monash University. The biobank is led by Professor Melissa Southey OAM, Chair of Precision Medicine at Monash’s School of Clinical Sciences and Director of Biobanking Victoria, and the AAR is led by Professor Erica Wood AO at the School of Public Health and Preventive Medicine.
“Adding biobanking to the Registry’s attributes is a huge boost to Australia’s research capacity into bone marrow failure syndromes,” said Professor Southey. “By bringing clinical, biobanking and registry expertise together, our teams have achieved something they could not have done alone.”
Professor Wood added that pairing clinical data with biospecimens is critical for translational impact.
“Registries are vital for research in rare conditions, where clinical trials are particularly difficult to run,” she said. “Biobanks give us the opportunity to study the biology of disease and evaluate new treatment options.”
The AMFB was made possible through years of strategic planning and investment by Maddie Riewoldt’s Vision, Australia’s only organisation dedicated to BMFS research and support. In 2020, the organisation initiated a national call for applications to identify a host institution, leading to Monash’s selection following a competitive process.
“Establishing the AMFB has been a priority for Maddie Riewoldt’s Vision since our inception,” said CEO Amy Coote. “This collaboration represents the best of science, strategy, and shared purpose to improve outcomes for patients and families.”
Professor David Ritchie, Director of the Maddie Riewoldt’s Vision Centre of Research Excellence in Bone Marrow Biology, praised the project’s scientific significance.
"The best discoveries are made when scientists and clinicians have coordinated access to detailed data and good quality samples to undertake analyses and explore new concepts that underpin the development and treatment of disease,” Professor Ritchie said.
Cheryll, grandmother to 15-year-old Matty, who lives with Fanconi anaemia, a rare inherited BMFS, and member of the AMFB Steering Committee, said the biobank represents meaningful progress for families like hers.
“It’s taken years of hard work to reach this point,” she said. “These samples will help drive research that can lead to better treatments and better lives, and that’s what matters most.”
The AMFB is now actively recruiting participants and welcoming interest from clinicians, researchers and collaborators across Australia.
For more information, contact: amfbiobank@monash.edu
About Monash University
Monash University is Australia’s largest university with more than 80,000 students. In the 60 years since its foundation, it has developed a reputation for world-leading high-impact research, quality teaching, and inspiring innovation.
With four campuses in Australia and a presence in Malaysia, China, India, Indonesia and Italy, it is one of the most internationalised Australian universities.
As a leading international medical research university with the largest medical faculty in Australia and integration with leading Australian teaching hospitals, we consistently rank in the top 50 universities worldwide for clinical, pre-clinical and health sciences.
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