Patient Advocacy in Diamond Blackfan Anemia: Facilitating Translational Research and Progress Towards the Cure of a Rare Disease
Marie Clarke Arturi
20110301
2011 Apr 1
Semin Hematol
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...