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 (IBMFS) are a type of genetic blood disorder inherited within a family. The most successful ‘cure’ for inherited Bone Marrow Failure Syndrome is a stem cell transplant if performed while the patient is young and fit, before the disease progresses. Despite current testing, the genetic changes responsible for around half of all inherited Bone Marrow Failure Syndrome patients remain unknown, which hinders diagnosis and the chance of early, effective treatment for these patients.

The Melbourne Genomics Health Alliance (MGHA) flagship study 2017-2019 has already demonstrated the benefits of genetic testing in the diagnosis, treatment and management of inherited Bone Marrow Failure Syndrome patients. Accurate genetic diagnosis helps optimise disease management, supports the selection of potential transplant donors, and can improve overall transplant outcomes.  

However, to date genetic testing has been limited to the coding regions of genes only. It is likely that the cause of some IBMFS cases will be found in other genomic regions missed using current techniques. This proposed study will represent one of the first whole genome sequence analyses of IBMFS patients in the world. In addition, this study will involve analysis of the whole family (‘trio analysis’) that is testing the affected child/adult plus their parents for definitive diagnosis.

The results will aid in the diagnosis for IBMFS patients who currently have no known genetic cause, plus help accelerate future patient diagnosis and potential treatments.