Date Funded: 12/13

The DBAF and DBA Canada proudly increased awareness among attendees at the 55th American Society of Hematology (ASH) Annual Meeting and Exposition held in New Orleans, LA from Dec. 7 – 10, 2013. The event was attended by over 20,000 worldwide hematologists, researchers and other health-related professionals. Visitors to the DBA booth received information regarding DBA clinical care, patient opportunities, and research.

Date Funded: 11/13

Dr. Johnson Liu at The Feinstein Institute for Medical Research was awarded a grant for the project, “Repairing Dominant Negative Mutation of RPS19 Gene by Spliceosome-Mediated RNA Trans-Splicing.” This approach takes advantage of the fact that human genes are made up of pieces of genetic information that are spliced together at the level of mRNA before they go on to create a protein.  The goal of this proposal is to swap one piece of coding information for another through a process called trans-splicing.  Using this approach, the coding information carrying a DBA-causing mutation will be swapped with normal coding information lacking the mutation. This project was co-sponsored with Diamond Blackfan Anemia Canada.

Date Funded: 10/13

Dr. George Thomas was awarded a grant for the research project entitled,The role of p53 in mediating the anemic response in DBA patients with defects in RPL5 or RPL11.” The long-term goal of this study is to understand the mechanisms through which red blood cell precursors in the marrow of DBA patients undergo programmed cell death rather than differentiate into mature red blood cells. The grant to the University of Cincinnati will provide support for Dr. Teng Teng on Dr. Thomas’ team. The team will investigate whether alternative pathways are at play in DBA patients with mutations in RPL5 and RPL11.  Overall, the goal of these studies is to define the molecular mechanisms by which defects in distinct ribosomal proteins affect the survival and maturation of hematopoietic cells, potentially leading to the development of more efficacious targeted therapies. This project was co-sponsored with Diamond Blackfan Anemia Canada.

Date Funded: 9/13

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: 7/13

Dr. Jingping Ge, Children’s Hospital in Philadelphia, was awarded a grant for her project entitled, “Role of TGF-beta signaling in the pathogenesis of DBA.” Dr. Ge’s preliminary data reveal that TGF-beta inhibits the reprogramming of differentiated cells to induced pluripotent stem cells (iPSCs) and even more so in DBA iPSCs. She hypothesizes that increased levels of TGF beta play an important role in causing the failure of erythropoiesis in DBA.  If so, then inhibiting the TGF beta pathway could be a therapeutic strategy in developing drugs to treat DBA. Dr. Ge is investigating the involved pathways by mRNA-sequencing and ribosome profiling. This research hopes to determine the role of TBF-beta signaling in DBA pathogenesis.

Date Funded: 7/13

Dr. John D Crispino, PhD., Northwestern University, was awarded a grant for the project, “Overriding GATA1 mutations in Diamond Blackfan Anemia.” The goals of this project are to: (1) characterize defects of mice that express GATA1s in place of full-length GATA1 and determine if overexpression of EKLF can rescue differentiation and (2) Identify small molecules that induce differentiation of GATA1s mutant erythroblasts. This project was funded with support from DBA Canada.