Date Funded: 6/12

Dr. Fredrick Goldman, University of Alabama at Birmingham, was awarded a grant for the project, “Toward a cure for DBA: creation of patient-specific gene corrected hematopoietic stem cells using induced pluripotent stem cell technology.” The goals of this research project are (1) to create an in vitro model of DBA using iPSC (induced pluripotent stem cell) for producing HSC (hematopoietic stem cells) by reprogramming patient cultured skin fibroblasts and (2) to use genetic recombination strategy to correct/replace the gene defect in iPS (induced pluripotent stem) cells derived from patients with the RPS-19 mutation. In general, this research may set the stage for an important patient-specific model system for studying developmental and physiological aspects of DBA that are currently unavailable.

Date Funded: 6/12

Dr. Steve Ellis’ research lab has been awarded a grant to continue important research support work at the University of Louisville, Kentucky. Dr. Ellis provides research support services to numerous worldwide DBA research groups. Dr. Ellis expects to broaden these activities over the next year as they continue to move forward with a gene discovery consortium, and develop these strategies as a tool for DBA diagnosis.

Date Funded: 6/12

The DBAF co-sponsored the 9th International Conference on Ribosome Synthesis. This meeting brings together investigators from all over the world to focus on issues related to ribosome synthesis.

Date Funded: 2/12

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