We would like to sincerely thank families and friends for your support and fundraising efforts. DBAF has recently been able to fund 3 research projects and a scientific conference. Because of your efforts more invaluable research is being supported to help find a better treatment and hopefully someday a cure for DBA.
Principal Investigator: Dr. Johan Flygare
Research: Characterizing the mechanism of glucocorticoid treatment in DBA.
Glucocorticoids have been used as a DBA treatment for many years. How glucocorticoids work to stimulate haemoglobin levels in DBA patients is unknown. Dr. Flygareâ€™s goal is to understand the mechanism of action by which glucocorticoids exert their positive effects in certain DBA patients. By understanding the mechanisms through which glucocorticoids work it may be possible to develop less toxic drugs that have similar or improved clinical benefits.
Principal Investigator: Dr. Shuo Lin, co-PI: Nadia Danilova
Research: Mechanism underlying erythroid deficiency in DBA using a zebrafish model.
Dr. Lin and a co-investigator Dr. Kathy Sakamoto received funding on 2005 from the DBAF to develop an animal model of DBA. With these funds they developed a zebrafish model of DBA which recapitulates some of the clinical features of DBA in humans. They were able to show that these clinical features could be rescued by genetically targeting a protein known as p53 or with drugs that inactivate p53. These studies had a dramatic affect on DBA research. Dr. Lin will use the current award to further investigate the zebrafish model of DBA with an eye towards understanding the role played by p53 in DBA pathology. Understanding this pathway could lead to molecular targets for the development of new therapeutics for use in DBA.
Principal Investigator: Dr Lydie Da Costa
Research: Genotype/phenotype relationships in DBA
DBA is a very heterogeneous disease. All genes identified to date known to be affected in DBA encode ribosomal proteins. These proteins can be components of the large or small ribosomal subunits. A growing number of studies indicate that the clinical presentation of DBA may be influenced by the nature of the ribosomal protein affected. Dr. Da Costaâ€™s group has shown that different ribosomal protein mutations have distinct affects on the behaviour of cells derived from the marrow of DBA patients. These studies will provide insight into the clinical variability of DBA and perhaps ultimately lead to designer therapies.
Scientific Conference: 3rd Congress of the International BioIron Society and the 8th International Symposium on Microbial Iron Transport, Storage, and Metabolism.
Iron overload and chelation therapies continue to be major topics of interest to DBA families. The DBAF was a bronze level sponsor of the 3rd Congress of the International BioIron Society where investigators from all over the world congregate to advance the fields related to iron metabolism.