Federal Government awards $3M to inherited Bone Marrow Failure Syndromes research project

From little things, big things grow…

Maddie Riewoldt had a clear vision — she knew that it was only by funding groundbreaking medical research that better treatments would become possible for Bone Marrow Failure Syndromes. 

With today’s news, that vision is becoming real.

We are beyond excited to learn of the awarding of a $3M Medical Research Future Fund (MRFF) Genomics Health Futures Mission Grant to a University of Melbourne project entitled Diagnosis, discovery and novel phenotype characterisation using multimodal genomics in patients with inherited bone marrow failure and related disorders.

The project, led by Dr Piers Blombery of the Molecular Haematopathology Laboratory at Peter MacCallum Cancer Centre, is a true collaboration.

It brings together a team of established and emerging national and international leaders in genomics, diagnosis and management of Bone Marrow Failure Syndromes and translation of genomic sequencing technologies into routine clinical practice to improve patient outcomes in haematological conditions.

Importantly, the project builds on critical infrastructure, clinical trials and grants-in-aid funded by Maddie Riewoldt’s Vision.

This milestone moment, announced by the Honourable Greg Hunt MP, Federal Minister for Health and Aged Care (media release), is a lovely example of how from little things, big things grow, and how Maddie’s Vision ensures every dollar donated is translating to a swelling momentum of impactful Bone Marrow Failure Syndromes research in Australia.

The story takes us back to the very first research grant Maddie’s Vision awarded and recognises direct contributions from Maddie’s Vision as well as other significant stakeholders…

• In 2016, funds were provided to the Aplastic Anaemia and other Bone Marrow Failure Syndromes Registry (AAR), a comprehensive clinical data registry collecting information from 39 hospitals located Australia-wide. The registry is managed by the Transfusion Research Unit in the School of Public Health and Preventative Medicine at Monash University.
• The registry provided case identification of patients for the Victorian Government funded Melbourne Genomic Health Alliance BMF Flagship, which was undertaken in 2017 to 2018 to determine the clinical usefulness of performing cutting edge genomic testing in the setting of BMFS. The Flagship clearly demonstrated the importance and usefulness of offering gene variant testing to this particular group of patients.
• Subsequently, in 2018, the Maddie’s Vision CRE in Bone Marrow Biology secured Federal Government MRFF Emerging Priorities and Consumer Driven Research Funds, and awarded the funds to support the continued extension BMF Flagship service via the opening of a prospective observational clinical trial, the EMBRACE trial.
• The EMBRACE trial, Evaluating MultidisciplinaRy Bone maRrow fAilure CarE trial, is currently being undertaken by Principal Investigators Dr Lucy Fox and Dr Piers Blombery, at the combined Clinical Haematology Department at the Royal Melbourne Hospital and Peter MacCallum Cancer Centre. The trial is open to all Australian patients from infancy, and offers molecularly-guided individualised care to patients with a either a suspected BMFS or an inherited predisposition to blood cancer, and expert management advice to clinicians referring these patents.
• In 2019 Maddie’s Vision awarded Grant-in-Aid funding to Dr Piers Blombery for his project entitled Using whole genome sequence analysis to find answers for unsolved cases of inherited bone marrow failure syndrome. Dr Blombery is determined to solve cases of ‘missing hereditability’ in patients who had been identified via the BMG Flagship of having a likely inherited BMFS, but as yet the exact genetic mutations responsible had proved elusive. Through the intricate analysis and testing of multiple samples from both the patient, and the patient’s parents, known as a trio analysis, the responsible gene variants are being discovered.

All this work, all the steps along the way, have assisted in providing the building blocks and preparatory research to have now leveraged significant Federal Government MRFF funds.

The awarding of $3M will provide over 350 Australian patients with either a suspected inherited BMFS or inherited predisposition to blood cancer (haematological malignancy) access to comprehensive genomic testing and enable earlier and more efficient genomic diagnosis of rare inherited haematological disease to inform clinical decision-making.

The research directly links the Aplastic Anaemia and other BMFS Registry with clinical and laboratory services throughout Australia and will continue our mission.

This is the most exciting research news for patients with inherited bone marrow failure syndromes to EVER happen in Australia, made possible by the contributions Maddie’s Vision has provided to critical infrastructure and related projects over the last 5 years.