Patient Advocacy in Diamond Blackfan Anemia: Facilitating Translational Research and Progress Towards the Cure of a Rare Disease

Semin Hematol. 2011 Apr;48(2):75-80, Marie Clarke Arturi

Abstract

Over the past decade, studies of Diamond Blackfan anemia (DBA) have revealed new insights into the novel molecular pathways of this rare bone marrow disorder, and the links among defective ribosome biosynthesis, nucleolar stress, and cancer are now being refined. There is no question these scientific and clinical advancements (Figure 1A and B) have improved the lives of patients and families struggling with DBA. But it has been the coming together—the communication and collaboration among all stakeholders—that...

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