Date Funded: 11/04

A grant was awarded to Stefan Karlsson MD, PhD, of Lund University, Lund, Sweden to assist in the funding of his four-year project titled “Cellular and Murine Models for RPS19 deficient DBA”. The goal of this project is to characterize the effects of RPS19 depletion on erythropoiesis using siRNA lentiviral vectors.

Date Funded: 10/04

Dr. Niklas Dahl of Uppsala University Children’s Hospital, Uppsala Sweden has been awarded a grant for the second year of a project titled “Identification of the Molecular Basis of DBA and the evaluation of RPS19 gene transfer”. This project is also receiving funding from three other Swedish organizations. The long term objective of this study is to better understand the basic molecular pathology behind DBA by identifying factors interacting with RPS19 and/or its messenger RNA, and to develop a novel treatment modality for DBA by studying gene transfer in a DBA mouse model.

Date Funded: 10/04

A grant was given to Hanna Gazda, MD, PhD, of Dana Farber Cancer Institute, Boston, MA, for her project “Genetics and Biology of DBA”. This investigation will test the hypothesis that detailed clinical and genetic examination of a large number of patients and careful statistical analysis will reveal a phenotype-genotype in individuals with identified RPS19 mutations.

Date Funded: 7/04

Steve Ellis, PhD, of the University of Louisville, Kentucky was awarded a grant to assume the responsibilities of Research Director. In addition to the responsibilities of this position, the grant will cover expenses such as a computer and laboratory supplies for related DBA research.

Date Funded: 7/04

Dr. Sarah Ball of St. George’s Hospital Medical School in London, England was the recipient of a grant for her project titled “Enhancement of Steroid Response in DBA: Application of an in vitro two-phase erythroid culture model”. This project will use a peripheral blood in vitro two phase erythroid culture model to study erythroid failure in DBA and the stimulatory effect of steroids. The use of agents that enhance steroid effectiveness and the interactions of other cytokines and hormones (including prolactin) on the production of red blood cells in DBA patients will be investigated, with the aim of identifying potentially therapeutic combinations that enhance the effectiveness of steroids.

Date Funded: 6/04

A grant was awarded to Mahmut Y. Celiker, MD, Jeffrey Lipton MD, PhD, Steven Arkin, MD, and Adrianna Vlachos, MD, of Schneider Children’s Hospital, New Hyde Park, NY for the second year of a project titled “Gene Expression During Erythropoeisis in DBA”. The long-term objective of this study is to apply the information gathered about the pathophysiology of DBA, to develop new treatment modalities, to optimize the current treatment methods, and eventually bring a cure to all DBA patients. Research findings from the first year of this study, also funded by the DBAF, have been submitted for publication in a very prestigious journal, “Experimental Hematology”.

Date Funded: 4/04

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

Date Funded: 1/04

Dr. Gil Tchernia of Bicetre Hospital, France received a grant as the second year funding of the scientific grant titled “Mechanistic Understanding of DBA Pathophysiology”. The long-term goal of this research project is to decipher the mechanistic understanding of the pathophysiology of DBA, and more specifically, to evaluate the role of ribosomal protein S19 (RPS19) in erythropoeisis and then to define the link between the mutation in RPS19 gene and the occurrence of the disease. New insights generated by this study could help design new therapeutic strategies for DBA patients.