More than a decade has passed since the initial identification of ribosomal 
protein gene mutations in patients with Diamond-Blackfan anemia (DBA), a 
hematologic disorder that became the founding member of a class of diseases 
known as ribosomopathies. In these diseases, genetic abnormalities that result 
in defective ribosome biogenesis cause strikingly tissue-specific phenotypes in 
patients, specifically bone marrow failure, craniofacial abnormalities and 
skeletal defects. Several animal models and numerous in vitro studies have 
demonstrated that the p53 pathway is central to the ribosomopathy phenotype. 
Additionally, there is mounting evidence of a link between the dysregulation of 
components of the translational machinery and the pathology of various 
malignancies. The importance of the role of ribosomal dysfunction in the 
pathogenesis of hematologic disorders is becoming clearer, and elucidation of 
the underlying mechanisms could have broad implications for both basic cellular 
biology and clinical intervention strategies.