Australian Marrow Failure Biobank

Abstract

Approximately 5 million people are affected by bone marrow failure syndromes (BMFS) worldwide each year, but individually many of the BMFS are rare. In Australia there are 160 new diagnoses each year, of which 50% do not survive. The rarity of these conditions and the absence of coordinated data and sample collection present barriers to research into biology and optimal treatment of BMFS. In Australia, Maddie Riewoldt's Vision (MRV) has supported a national comprehensive clinical data set on newly diagnosed patients with BMFS through strategic funding of the Aplastic Anaemia Registry and Other Bone Marrow Failure Syndromes Registry (AAR). MRV seeks to build on this initiative by establishing a matched research sample set that will allow new research questions to be asked, provide a feasible and ready-to-go sample set that will support BMFS research. The purpose of the AMFB is to establish a national repository of samples from patients with BMFS to serve as a community resource for clinicians and researchers. Promote nationally consistent, comprehensive diagnostic (including molecular) testing for patients with BMFS. It is hoped that the research from this biobank will provide valuable information to improve the diagnosis, treatment, or care of people with BMFS.