Title
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
DOI
10.1586/17474086.2014.897923