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

Publication Date

2014

Journal Title

Expert Rev Hematol

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.

Volume Number

7

Issue Number

3

Pages

359-372

Document Type

Article

EPub Date

2014/03/29

Status

Faculty

Facility

School of Medicine

Primary Department

General Pediatrics

Additional Departments

Molecular Medicine

PMID

24665981

DOI

10.1586/17474086.2014.897923

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