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

Towards targeted treatments for Fanconi Anaemia 

2017 – 2019 Fellowship / 2017 Grant-in-Aid, Towards targeted treatments for Fanconi Anaemia, Associate Professor Wayne Crismani, St Vincents Institute for Medical Research Fanconi Anaemia is an inherited disorder which can lead to bone ...

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Curation of the DIAAMOND-based Aplastic Anaemia Biobank

2021-2023 (Grant-in-Aid): Curation of the DIAAMOND-based Aplastic Anaemia Biobank. Associate Professor Stephen Ting, Monash University. This project (the DIAAMOND biobank) is a sub-study of the DIAAMOND clinical trial and will collect, process ...

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Precision gene editing for the treatment of Fanconi Anaemia. 

2021-2024 (Grant-in-Aid): Precision gene editing for the treatment of Fanconi Anaemia. Dr Lorna McLeman, St Vincent’s Institute of Medical Research. Fanconi Anaemia is the most common cause of inherited bone marrow failure with a median onset of ...

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Establishing an in vivo humanised mouse model for telomere related bone marrow failure syndromes.

2019-2021 (Grant-in-Aid): Establishing an in vivo humanised mouse model for telomere related Bone Marrow Failure Syndromes. Professor Tracy Bryan, Children’s Medical Research Institute. Human genetic information is packaged into discrete bundles ...

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