Diamond Blackfan anemia: a model for the translational approach to understanding human disease
| Autor: | Adrianna Vlachos, Jeffrey M. Lipton, Lionel Blanc |
|---|---|
| Rok vydání: | 2014 |
| Předmět: |
medicine.medical_specialty
business.industry Ribosomopathy Scientific discovery Translational medicine Pure red cell aplasia Hematology medicine.disease Translational Research Biomedical Human disease hemic and lymphatic diseases Bone Marrow failure syndromes Immunology medicine Animals Humans Diamond–Blackfan anemia business Intensive care medicine Inherited bone marrow failure syndrome Anemia Diamond-Blackfan |
| Zdroj: | Expert Review of Hematology. 7:359-372 |
| ISSN: | 1747-4094 1747-4086 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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