Date Funded: 10/10

Emanuela Tolosano, Ph.D., Professor at the University of Torino School of Medicine, was awarded a grant to fund a project aimed at defining the role of the Feline Leukemia Virus, subgroup C, Receptor (FLVCR) in the pathogenesis of Diamond-Blackfan anemia. FLVCR encodes a protein that exports excess heme from cells. It has been suggested that defects in globin synthesis, perhaps as a result of ribosomal protein mutations, could result in excess heme in erythroid progenitors that would need to be exported from cells to reduce heme toxicity. Thus, FLVCR could play an important role in DBA pathogenesis.

Date Funded: 7/10

Hanna T. Gazda, M.D. Instructor in Pediatrics Harvard Medical School was awarded a grant to continue her efforts to identify genes mutated in patients with DBA. The aim of this study is (1) to perform comparative genomic hybridization to search for deletions and duplications in ribosomal protein genes that could not have been picked up by DNA sequencing; (2) to perform whole exome sequencing (“next generation” sequencing) to potentially identify non-ribosomal protein genes that may be mutated in DBA. This project will result in a more complete picture of the genetic causes of DBA and the pathogenic mechanisms that result.

Date Funded: 5/10

Paul de Figuieredo, Ph.D., Assistant Professor, Texas A&M University was awarded a grant for the project “Discovering therapeutics for DBA”. The long-term goal of this study is to develop small molecule therapeutics for Diamond Blackfan Anemia (DBA), by screening for molecules that overcome growth defects associated with decreased expression of ribosomal protein S19 in a yeast model of DBA.

Date Funded: 2/10

The DBAF supported the Eleventh Annual Diamond Blackfan Anemia International Consensus Conference sponsored and organized by the Daniella Maria Arturi Foundation.