Date Funded: 12/16

The DBAF and DBA Canada proudly increased awareness among attendees at the 58th American Society of Hematology (ASH) Annual Meeting and Exposition held in San Diego. The event was attended by over 20,000 worldwide hematologists, researchers and other health-related professionals. Visitors to the DBA booths received information regarding DBA clinical care, patient opportunities, and research.

Date Funded: 8/16

Janis Abkowitz. M.D., from the University of Washington, Seattle, WA was awarded $60,238 for the project entitled, “The contribution of heme excess to macrocytic anemia in murine models of DBA.” They propose studying the relationships of heme synthesis, globin synthesis, ROS, P53 expression/activity, and ferroptosis (a recently described iron dependent, non-apoptotic death mechanism) in a new and more promising murine model of DBA, Rpl11 haploinsufficient mice, and in Rps19 deficient mice.

Date Funded: 7/16

DBAF has awarded Yigal Dror, M.D., The Hospital for Sick Children, Toronto, Canada, a $55,000 grant for the research project entitled, “Understanding the role of the FLVCR1 heme exporter and splicing regulators in the erythropoietic failure in Diamond Blackfan Anemia.” They hypothize that aberrant splicing of cellular transcripts that includes FLVCR1 aberrant splicing play an important role in DBA pathogenesis and that the erythropoietic defect in DBA HSCs can be rescued by expression of normal FLVCR1 or TRA2B cDNAs.

Date Funded: 6/16

A DBAF grant of $50,000 was awarded to John Strouboulis, Ph.D., Institute of Molecular Biology and Biotechnology, Foundation of Research and Technology Hellas, Greece for his project, “Differential characterization of GATA1 and GATA1short protein interactomes in erythroid cells.” The project proposes to establish whether GATA1 has a direct regulatory role in RP gene expression in erythroid cells and, if so, how this may be affected by the GATA1s mutation.

Date Funded: 6/16

An award of $25,000 was given to Michal Hetman, M.D., Ph.D., of the University of Louisville, Kentucky for his project, “Identifying Small Molecule Compounds to Disrupt Ribosomal Stress Signaling.” This screen is distinct from other DBA drug screens in that this is a virtual screen where millions of chemical are virtually docked to the site of interaction between Rpl11 and MDM2. Chemicals identified in this virtual screen will be tested in various DBA models, including patient cells.

Date Funded: 3/16

The 14th Diamond Blackfan Anemia International Consensus Conference was held March 5-7 at the Ritz-Carlton Hotel in downtown Atlanta, Georgia. The overriding goal of this and past ICC meetings has been to identify therapies and strategies to improve the quality of life for patients and families with DBA.