Diamond blackfan anemia: A model for the translational approach to understanding human disease

Adrianna Vlachos, Lionel Blanc, Jeffrey M. Lipton

Research output: Contribution to journalReview articlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)359-372
Number of pages14
JournalExpert review of hematology
Volume7
Issue number3
DOIs
StatePublished - Jun 2014
Externally publishedYes

Keywords

  • Diamond Blackfan anemia
  • GATA1
  • MDM2
  • P53
  • Pure red cell aplasia
  • Ribosomal proteins
  • Ribosome biosynthesis
  • Ribosomopathy

ASJC Scopus subject areas

  • Hematology

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