Maddie’s Vision Furthers Research on Bone Marrow Failure

Thanks to a recent grant from Bone Marrow Failure Syndrome (BMFS) charity Maddie’s Vision, ARMI’s Professor Lieschke is continuing in his efforts to improve outcomes for patients with haematological diseases.

Despite being established only four years ago, Maddie Riewoldt’s Vision has already raised over $7million to fund Bone Marrow Failure Syndrome (BMFS) research. One of the recent recipients of the foundation’s support is ARMI’s Professor Graham Lieschke. Maddie Riewoldt’s Vision CEO Nicky Long remembers being particularly excited by the innovative and translational nature of Graham’s work during the competitive selection process. “Maddie’s Vision is about being able to give families certainty in what their children are facing,” explains Nicky. “That means better treatment options, but that certainty also refers to what families can come to expect – with the progression or otherwise – when it comes to their child’s life-threatening illness. It is a mission to find a cure, but we know that’s not going to happen tomorrow.”

With the organisation’s support, Graham’s team at ARMI will work across projects which span the pipeline from bench to bedside, using zebrafish models and cutting-edge gene editing technologies to investigate the function of gene mutations that are found in patients. “Many of our patients now have genomic analyses which can lead to the discovery of variations in genes that are known to cause disease; but the consequence of these particular variations might not be known,” explained Graham. “The genomic analyses can also find lesions in genes that aren’t yet connected with the patient’s disease: we can then use the models to turn enigmas about gene function into facts.” Not only will this work expand our knowledge about the genetic causes of BMFS, but it will also help us understand the disease’s pathology, while providing experimental models that could be used in drug screening.

This translational research stands at the interface between clinical genomics and laboratory genetics. This project will involve clinicians and researchers across the Peter MacCallum Institute, the Royal Children’s Hospital, the Ludwig Maximilian University of Munich, and the Dr. von Hauner Children’s Hospital. Nicky spoke fondly not only of Graham’s world-leading scientific work, but his good-humoured personality and collaborative approach to problem solving. “With Graham, it’s not all about his work and his solution being ‘the right one’,” describes Nicky. “He’s very open minded about how he can learn from others.” It is this alignment of mission and approach which has made this grant a perfect fit.

 “The work is really at the cusp of discovery, and that discovery is leading to in vivo work,” says Nicky. “It’s one thing to start with the zebrafish model, but there’s already a proven track record that the identification of these genes can translate into human beings – and that’s ultimately why we wanted to invest in the work.”

More information

The Lieschke Group studies the haemopoietic system (blood production) and leukocytes (white blood cells). For more information on Professor Graham Lieschke  and his group at ARMI, please visit the Lieschke Group page. You can contact Professor Graham Lieschke via graham.lieschke@monash.edu. 

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