TY - JOUR
T1 - Diamond blackfan anemia
T2 - A model for the translational approach to understanding human disease
AU - Vlachos, Adrianna
AU - Blanc, Lionel
AU - Lipton, Jeffrey M.
PY - 2014/6
Y1 - 2014/6
N2 - 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.
AB - 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.
KW - Diamond Blackfan anemia
KW - GATA1
KW - MDM2
KW - P53
KW - Pure red cell aplasia
KW - Ribosomal proteins
KW - Ribosome biosynthesis
KW - Ribosomopathy
UR - http://www.scopus.com/inward/record.url?scp=84900855457&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84900855457&partnerID=8YFLogxK
U2 - 10.1586/17474086.2014.897923
DO - 10.1586/17474086.2014.897923
M3 - Review article
C2 - 24665981
AN - SCOPUS:84900855457
SN - 1747-4086
VL - 7
SP - 359
EP - 372
JO - Expert review of hematology
JF - Expert review of hematology
IS - 3
ER -