Date Funded: 9/14

The DBAF provided a grant for Dr. Shai Izraeli at Tel Aviv University for his project entitled, “A mouse model to study the role of GATA2 in anemia caused by GATA1s mutation.” If successful, this experiment will lead to a search for GATA2 “druggable” targets whose modification may at least partially ameliorate the anemia in DBA patients with GATA1s mutations.

Date Funded: 8/14

The DBAF, in partnership with DBA Canada, awarded a grant to Dr. David Bodine, Ph.D. at the National Human Genome Research Institute for his project, “Assay Development and Preliminary Screening of Small Molecules to Increase Ribosomal Protein Levels.” This project aims to screen thousands of potential drugs that may be able to increase the translation of ribosomal protein mRNA.

Date Funded: 8/14

DBAF and DBA Canada collaborated to continue funding Dr. Harvey Lodish’s project, “High-throughput screening identifies many novel potential therapies for Diamond Blackfan Anemia.” Without this grant, research would have halted at a critical juncture due to DoD reorganization and lack of funding. The Lodish group has identified a set of drugs that appear to work synergistically with steroids in stimulating erythropoiesis in mice.

Date Funded: 6/14

The DBAF awarded a grant to Vijay G. Sankaran, M.D., Ph.D. of Boston Children’s Hospital to fund a research project entitled, “Defining GATA1 Transcriptional Alterations in Diamond-Blackfan Anemia.” Dr. Sankaran was involved in the studies leading to the discovery of GATA1 as the first known non-ribosomal DBA gene and has since shown that ribosomal protein haploinsufficiency affects GATA1 expression. This award will allow for better understanding of the role of GATA1 in the altered red blood cell production observed in DBA, giving insight into what goes wrong in patients.

Date Funded: 5/14

A grant was awarded to Daniel Finley, Ph.D. at Harvard for his project entitled, “A new mode of ribosome regulation specific to reticulocytes.” The grant will allow the researchers to think about the problem of DBA in a new way as this project arose out of work on genetic mutant strains of mice with anemia that have exceptionally high ribosome levels (the opposite of DBA) due to a failure of ribosome elimination.

Date Funded: 4/14

The DBAF awarded a grant to Dr. Harvey Lodish at MIT for his project entitled, “High-throughput screening identifies many novel potential therapies for Diamond Blackfan Anemia.” This grant functioned as gap funding to maintain the progress of a project initially funded by the U S Department of Defense (DoD) in which over 2000 tested and FDA-approved therapeutic compounds were screened in hopes of obtaining “hits” that can stimulate red cell production in mouse models. Ten drugs were found to be successful stimulating red cell production in mice and then were rescreened in a new human cell culture system.

Date Funded: 3/14

The 13th Diamond Blackfan Anemia International Consensus Conference was held March 8-10 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.