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Expert Rev Hematol. 2014 Jun;7(3):359-72. doi: 10.1586/17474086.2014.897923. Epub 2014 Mar 26.

Diamond Blackfan anemia: a model for the translational approach to understanding human disease.

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1
Feinstein Institute for Medical Research, Manhasset, NY, USA.

Abstract

Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome. As with the other rare inherited bone marrow failure syndromes, the study of these disorders provides important insights into basic biology and, in the case of DBA, ribosome biology; the disruption of which characterizes the disorder. Thus DBA serves as a paradigm for translational medicine in which the efforts of clinicians to manage DBA have informed laboratory scientists who, in turn, have stimulated clinical researchers to utilize scientific discovery to provide improved care. In this review we describe the clinical syndrome Diamond Blackfan anemia and, in particular, we demonstrate how the study of DBA has allowed scientific inquiry to create opportunities for progress in its understanding and treatment.

KEYWORDS:

Diamond Blackfan anemia; GATA1; MDM2; p53; pure red cell aplasia; ribosomal proteins; ribosome biosynthesis; ribosomopathy

PMID:
24665981
DOI:
10.1586/17474086.2014.897923
[Indexed for MEDLINE]
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