Bone marrow failure can be either inherited or acquired, and the underlying cause determines the most effective treatment. It is therefore vital to accurately identify the cause of the bone marrow failure for each patient.

This project is investigating whether genomic sequencing can offer quicker and more accurate diagnosis, leading to the most appropriate care for each patient – and potentially reducing illness and death from bone marrow failure.

Genomic sequencing may also lead to earlier identification of patients whose bone marrow failure is at risk of transforming into aggressive blood conditions such as leukaemia.

Confirmation of whether the cause of the bone marrow failure is inherited can also allow relatives to be tested, if appropriate.

Click here for information on Melbourne Genomics'  bone marrow failure project.


“Utility of clinical comprehensive genomic characterisation for diagnostic categorisation in patients presenting with hypocellular bone marrow failure syndromes”, Piers Blombery, Lucy Fox, Georgina L. Ryland, Ella R. Thompson, Jennifer Lickiss, Michelle MCBean, Satwica Yerneni, David Hughes, Anthea Greenway, Francoise Mechinaud, Erica M. Wood, Graham J. Lieschke, Jeff Szer, Pasquale Barbaro, John Roy, Joel Wight, Elly Lynch, Melissa Martyn, Clara Gaff and David Ritchie, Haematologica (2020) doi:10.3324/haematol.2019.237693


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Melbourne Genomics acknowledges the Wurundjeri people of the Kulin Nation, on whose lands we work, and all First Nations peoples across Victoria. We pay respect to Elders past and present. We also acknowledge the First Nations health professionals, researchers and leaders who are shaping the future of genomic medicine.

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