Hanna Gazda's research focuses on identifying the genetic causes and molecular pathogenesis of Diamond-Blackfan Anemia (DBA), a bone marrow failure characterized by anemia, bone marrow erythroblastopenia and congenital abnormalities. The first DBA gene, ribosomal protein S19, was found to be mutated in ~25% of DBA patients. Gazda and colleagues recently identified four other genes, RPS24, RPL5, RPL11, and RPS7, mutated in ~15% of DBA patients, and confirmed that DBA is a first human disease caused by mutations in ribosomal proteins. They also discovered the first known correlation between mutations in certain genes and particular clinical findings. In particular, mutations in RPL5 are associated with multiple physical abnormalities including cleft lip/cleft palate, thumbs and heart anomalies, while isolated thumb malformations are predominantly present in patients carrying mutations in RPL11. The laboratory’s current goal is to identify other genes involved in DBA, to uncover the pathogenesis of the disease and to generate an animal model for DBA.