Projects
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Predicting malignant transformation of Bone Marrow Failure Syndromes using longitudinal targeted sequencing of peripheral blood and cell-free DNA (cfDNA).

2018-2020 (Grant-in-Aid): Predicting malignant transformation of Bone Marrow Failure Syndromes using longitudinal targeted sequencing of peripheral blood and cell-free DNA (cfDNA). Associate Professor Piers Blombery, Peter MacCallum Cancer Centre.

Aplastic Anaemia occurs when the body stops producing enough new blood cells. Some of these patients may respond to immunosuppressive therapy or bone marrow transplant, and some may progress to malignancy (myelodysplasia and/or acute myeloid leukaemia). Given this range of outcomes, any additional understanding may assist in clinical decision-making and may improve patient outcomes.

This study collects repeated small samples of blood from patients over time as part of a new tool to track accumulation of genomic mutations found in the blood. The technique takes advantage of the presence of cell free DNA in the blood, as a source for mutation testing, instead of traditional time-consuming and painful bone marrow collection. This new patient monitoring technique has already been used to track progress and potential mutation changes in 21 patients to date with over 100 tests performed. The potential impact of these studies on new techniques for monitoring Aplastic Anaemia patient progression may mean less painful, time-consuming bone marrow collection and more up-to-date disease information benefiting both clinician and patient.

Related Projects

Discovering new genes and mutations that cause failure of bone marrow neutrophil production. 

2018-2020 (Grant in aid): Discovering new genes and mutations that cause failure of bone marrow neutrophil production. Professor Graham Lieschke, Australian Regenerative Medicine Institute/Monash University and The Royal Melbourne Hospital. ...

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Influences of clonal haematopoiesis in allogeneic bone marrow transplantation.

2018-2020 (Grant in aid): Influences of clonal haematopoiesis in allogeneic bone marrow transplantation. Dr Paul Yeh and Professor Mark Dawson, The University of Melbourne. Dr Paul Yeh’s research focusses on using genetic testing to study clonal ...

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Using whole genome sequence analysis to find answers for unsolved cases of inherited Bone Marrow Failure Syndrome (iBMFS).

2020-2022 (Grant-in-Aid): Using whole genome sequence analysis to find answers for unsolved cases of inherited Bone marrow Failure Syndrome. Associate Professor Piers Blombery, The University of Melbourne. Inherited Bone Marrow Failure Syndromes ...

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Using induced pluripotent stem cells to find causes and cures for bone marrow failure in children and young adults

2018-2023 (Grant-in-Aid): Using induced pluripotent stem cells to find causes and cures for bone marrow failure in children and young adults. Professor Andrew Elefanty, Murdoch Children’s Research Institute. Bone Marrow Failure Syndromes may be ...

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