Date Funded: 7/07

Dr. Johan Flygare, working in collaboration with Stefan Karlsson MD, PhD, of Lund University, Lund, Sweden was awarded a grant for the project “Diamond Blackfan Anemia: Disease Models and Gene Therapy Research Plan.” The aims of this project are to study the feasibility of gene therapy in RPS19 deficient DBA patients and then to create viable disease models for DBA.

Date Funded: 7/07

A grant was awarded to Prof. Fabrizio Loreni of University Tor Vergata, Roma, Italy for his project “Molecular alterations caused by RPS19 mutations and their role in DBA.” The aim of this project is to investigate the alterations caused by mutations in the RPS19 gene and their possible role in DBA pathogenesis and to examine the relationship between molecular defects and DBA clinical symptoms. The project will also investigate the possibility of increasing the amount of RPS19 in cells deficient for this protein.

Date Funded: 3/07

Colin Sieff, MD of Children’s Hospital of Boston, Boston, MA was awarded a grant for the grant titled “Pathogenesis of Erythroid Failure in DBA.” This project aims to study why erythropoiesis is so severely affected in DBA by studying the effect of reducing (‘knocking down”) RPS19 in primary (normal) mouse fetal liver cells, the major site of red cell production during fetal development, and by making a mouse in which RPS19 can be depleted at different stages of development or in different cell lineages (a conditional knockout mouse).

Date Funded: 2/07

A grant was given to Hanna Gazda, MD, PhD, of Children’s Hospital of Boston, Boston, MA, for her third year on the project “Genetics and Biology of DBA” (phenotype-genotype correlation study).

Date Funded: 2/07

The DBAF co-sponsored the Eighth Annual Diamond Blackfan Anemia International Consensus Conference sponsored and organized by the Daniella Maria Arturi Foundation.

Date Funded: 2/07

The DBAF was a Sponsor of the BioIron 2007 World Congress on Iron Metabolism held in Kyoto, Japan.