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Date Funded: 7/10 Hanna T. Gazda, M.D. Instructor in Pediatrics Harvard Medical School was awarded $51,512 to continue her efforts to identify genes mutated in patients with DBA. The aim of this study is (1) to perform comparative genomic hybridization to search for deletions and duplications in ribosomal protein genes that could not have been picked up by DNA sequencing; (2) to perform whole exome sequencing (“next generation” sequencing) to potentially identify non-ribosomal protein genes that may be mutated in DBA. This project will result in a more complete picture of the genetic causes of DBA and the pathogenic mechanisms that result.
Date Funded: 5/10 Paul de Figuieredo, Ph.D., Assistant Professor, Texas A&M University was awarded a $43,256 grant for the project “Discovering therapeutics for DBA”. The long-term goal of this study is to develop small molecule therapeutics for Diamond Blackfan Anemia (DBA), by screening for molecules that overcome growth defects associated with decreased expression of ribosomal protein S19 in a yeast model of DBA.
Date Funded: 2/10 The DBAF supported the Eleventh Annual Diamond Blackfan Anemia International Consensus Conference sponsored and organized by the Daniella Maria Arturi Foundation for $25,000.
Date Funded: 2/09 Dr. Steve Ellis, PhD, Louisville, Kentucky, was awarded a $15,900 grant to continue the responsibilities of Research Director.
Date Funded: 10/09 Dr. Shuo Lin, University of California, Los Angeles, in collaboration with Nadia Danilova, was awarded a grant for the project “Mechanism underlying erythroid deficiency in DBA using a zebrafish model.” The aims of this project are 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.
Date Funded: 10/09 A grant for the project “Genotype/phenotype relationships in DBA” was awarded to Dr. Lydie Da Costa, Hôpital Robert Debré in Paris, France. Dr. Da Costa’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.
Date Funded: 6/09 Dr. Johan Flygare of the Whitehead Institute of Biomedical Research, Cambridge, MA was awarded a grant for the project “Characterizing the mechanism of glucocorticoid treatment in DBA.” The goal of this project 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.
Date Funded: 5/09 The DBAF was a Bronze Level Sponsor of the 2009 International BioIron Society Conference where investigators from all over the world congregate to advance the fields related to iron metabolism.
Date Funded: 2/09 The DBAF co-sponsored the Tenth Annual Diamond Blackfan Anemia International Consensus Conference sponsored and organized by the Daniella Maria Arturi Foundation.
Date Funded: 12/08 Dr. David Bodine with the National Human Genome Institute at the NIH was awarded a grant for the project “Development and Characterization of mouse models for Diamond Blackfan Anemia”. The aims of this project are to optimize and complete characterization of conditional RPS19R62W transgenic mice; to systematically study changes in gene expression in cells expressing the mutant Rps19 protein; and to create other mouse models of DBA by performing similar types of experiments with newly identified DBA genes.
Date Funded: 11/08 Dr. Steve Ellis, PhD, Louisville, Kentucky, was awarded a grant to continue the responsibilities of Research Director. In addition to these responsibilities, the grant will cover expenses for related DBA research.
Date Funded: 9/08 The DBAF co-sponsored the 8th 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: 08/08 Colin Sieff, MD of Children’s Hospital of Boston, Boston, MA was awarded a grant for the second year on this project titled “Pathogenesis of Erythroid Failure in DBA.” This project aims to study why erythropoiesis is so severely affected in DBA by studying the effect of reducing (“knock down”) RPS 19 in primary normal mouse fetal liver cells, the major site of red cell production during fetal development, and by making a mouse in which RPS 19 can be depleted at different stages of development or in different cell lineages (a conditional knockout mouse).
Date Funded: 3/08 The DBAF co-sponsored the Ninth Annual Diamond Blackfan Anemia International Consensus Conference sponsored and organized by the Daniella Maria Arturi Foundation.
Date Funded: 7/07 Dr. Johan Flygare, working in collaboration with Stefan Karlsson MD, PhD, of Lund University, Lund, Sweden was awarded a grant for the project “Diamond Blackfan Anemia: Disease Models and Gene Therapy Research Plan.” The aims of this project are to study the feasibility of gene therapy in RPS19 deficient DBA patients and then to create viable disease models for DBA.
Date Funded: 7/07 A grant was awarded to Prof. Fabrizio Loreni of University Tor Vergata, Roma, Italy for his project “Molecular alterations caused by RPS19 mutations and their role in DBA.” The aim of this project is to investigate the alterations caused by mutations in the RPS19 gene and their possible role in DBA pathogenesis and to examine the relationship between molecular defects and DBA clinical symptoms. The project will also investigate the possibility of increasing the amount of RPS19 in cells deficient for this protein.
Date Funded: 3/07 Colin Sieff, MD of Children’s Hospital of Boston, Boston, MA was awarded a grant for the grant titled “Pathogenesis of Erythroid Failure in DBA.” This project aims to study why erythropoiesis is so severely affected in DBA by studying the effect of reducing (‘knocking down”) RPS19 in primary (normal) mouse fetal liver cells, the major site of red cell production during fetal development, and by making a mouse in which RPS19 can be depleted at different stages of development or in different cell lineages (a conditional knockout mouse).
Date Funded: 2/07 A grant was given to Hanna Gazda, MD, PhD, of Children’s Hospital of Boston, Boston, MA, for her third year on the project “Genetics and Biology of DBA” (phenotype-genotype correlation study).
Date Funded: 2/07 The DBAF co-sponsored the Eighth Annual Diamond Blackfan Anemia International Consensus Conference sponsored and organized by the Daniella Maria Arturi Foundation.
Date Funded: 2/07 The DBAF was a Sponsor of the BioIron 2007 World Congress on Iron Metabolism held in Kyoto, Japan.
Date Funded: 9/06 Steve Ellis, PhD, of the University of Louisville, Kentucky was awarded a grant to continue the responsibilities of Research Director. In addition to these responsibilities, the grant will cover expenses for related DBA research.
Date Funded: 7/06 A grant was awarded to Prof. Irma Dianzani, of the University of Eastern Piedmont “A. Avogadro, Novara, Italy for her project entitled “Determination of the Role of RPS19 in the pathogenesis of DBA by Identification of its Cellular Partners.” The aim of this project is to identify proteins or RNA as being interacting agents with RPS19, and then to evaluate/validate any such interacting partner and its significance for DBA.
Date Funded: 2/06 The DBAF co-sponsored the Seventh Annual Diamond Blackfan Anemia International Consensus Conference sponsored and organized by the Daniella Maria Arturi Foundation.
Date Funded: 2/06 A grant was awarded to Stefan Karlsson MD, PhD, of Lund University, Lund, Sweden to assist in the funding of his four-year project titled “Cellular and Murine Models for RPS19 deficient DBA”. The goal of this project is to characterize the effects of RPS19 depletion on erythropoiesis using siRNA lentiviral vectors.
Date Funded: 11/05 A grant was given to Hanna Gazda, MD, PhD, of Children’s Hospital of Boston, Boston, MA, for her second year on the project “Genetics and Biology of DBA”.
Date Funded: 9/05 Steve Ellis, PhD, of the University of Louisville, Kentucky was awarded a grant to continue the responsibilities of Research Director. In addition to these responsibilities, the grant will cover expenses for related DBA research.
Date Funded: 9/05 Kathleen Miho Sakamoto, MD, PhD. of UCLA School of Medicine (at present Division of Biology, California Institute of Technology) was awarded a grant for her project entitled “Developing a Zebrafish Model of Diamond Blackfan Anemia”. This project outlines plans to develop a zebrafish models for DBA. The goal is to use these models to more fully understand the pathogenesis of DBA, in particular to invesigate the possibility that RPS19 is involved in extra-ribosomal processes.
Date Funded: 9/05 Dr. Sarah Ball of St. George’s Hospital Medical School in London, England was the recipient of a grant for the second year of her project titled “Enhancement of Steroid Response in DBA: Application of an in vitro two-phase erythroid culture model”.
Date Funded: 8/05 The DBAF was a Silver Sponsor of the BioIron 2005 World Congress on Iron Metabolism held in Prague, Czech Republic.
Date Funded: 3/05 The DBAF co-sponsored the Sixth Annual Diamond Blackfan Anemia International Consensus Conference sponsored and organized by the Daniella Maria Arturi Foundation.
Date Funded: 11/04 A grant was awarded to Stefan Karlsson MD, PhD, of Lund University, Lund, Sweden to assist in the funding of his four-year project titled “Cellular and Murine Models for RPS19 deficient DBA”. The goal of this project is to characterize the effects of RPS19 depletion on erythropoiesis using siRNA lentiviral vectors.
Date Funded: 10/04 Dr. Niklas Dahl of Uppsala University Children’s Hospital, Uppsala Sweden has been awarded a grant for the second year of a project titled “Identification of the Molecular Basis of DBA and the evaluation of RPS19 gene transfer”. This project is also receiving funding from three other Swedish organizations. The long term objective of this study is to better understand the basic molecular pathology behind DBA by identifying factors interacting with RPS19 and/or its messenger RNA, and to develop a novel treatment modality for DBA by studying gene transfer in a DBA mouse model.
Date Funded: 10/04 A grant was given to Hanna Gazda, MD, PhD, of Dana Farber Cancer Institute, Boston, MA, for her project “Genetics and Biology of DBA”. This investigation will test the hypothesis that detailed clinical and genetic examination of a large number of patients and careful statistical analysis will reveal a phenotype-genotype in individuals with identified RPS19 mutations.
Date Funded: 7/04 Steve Ellis, PhD, of the University of Louisville, Kentucky was awarded a grant to assume the responsibilities of Research Director. In addition to the responsibilities of this position, the grant will cover expenses such as a computer and laboratory supplies for related DBA research.
Date Funded: 7/04 Dr. Sarah Ball of St. George’s Hospital Medical School in London, England was the recipient of a grant for her project titled “Enhancement of Steroid Response in DBA: Application of an in vitro two-phase erythroid culture model”. This project will use a peripheral blood in vitro two phase erythroid culture model to study erythroid failure in DBA and the stimulatory effect of steroids. The use of agents that enhance steroid effectiveness and the interactions of other cytokines and hormones (including prolactin) on the production of red blood cells in DBA patients will be investigated, with the aim of identifying potentially therapeutic combinations that enhance the effectiveness of steroids.
Date Funded: 6/04 A grant was awarded to Mahmut Y. Celiker, MD, Jeffrey Lipton MD, PhD, Steven Arkin, MD, and Adrianna Vlachos, MD, of Schneider Children’s Hospital, New Hyde Park, NY for the second year of a project titled “Gene Expression During Erythropoeisis in DBA”. The long-term objective of this study is to apply the information gathered about the pathophysiology of DBA, to develop new treatment modalities, to optimize the current treatment methods, and eventually bring a cure to all DBA patients. Research findings from the first year of this study, also funded by the DBAF, have been submitted for publication in a very prestigious journal, “Experimental Hematology”.
Date Funded: 4/04 The DBAF co-sponsored the Fifth Annual Diamond Blackfan Anemia International Consensus Conference sponsored and organized by the Daniella Maria Arturi Foundation.
Date Funded: 1/04 Dr. Gil Tchernia of Bicetre Hospital, France received a grant as the second year funding of the scientific grant titled “Mechanistic Understanding of DBA Pathophysiology”. The long-term goal of this research project is to decipher the mechanistic understanding of the pathophysiology of DBA, and more specifically, to evaluate the role of ribosomal protein S19 (RPS19) in erythropoeisis and then to define the link between the mutation in RPS19 gene and the occurrence of the disease. New insights generated by this study could help design new therapeutic strategies for DBA patients.
Date Funded: 8/03 Funded To: Professor Gil Tchernia Project Title: Evaluation of metoclopramide efficacy and toxicity in Diamond-Blackfan Anemia patients.
Date Funded: 8/03 Funded To: Dr. Niklas Dahl Project Title: Funded Identification of the molecular basis of Diamond-Blackfan Anemia and evaluation of RPS 19 gene transfer.
Date Funded: 12/02 Funded To: Mahmut Y. Celiker, MD, Jeffrey Lipton, MD, PhD, Steven Arkin, MD, and Adrianna Vlachos, MD, of Schneider Children’s Hospital, New Hyde Park, New York. Project Title: Gene Expression During Erythropoiesis in Diamond-Blackfan Anemia.
Date Funded: 12/02 Funded To: Kathleen M. Sakamoto, MD, of the University of California, Los Angeles Project Title: AML in Diamond-Blackfan Anemia: Molecular Basis and Therapeutic Strategies.
Date Funded: 12/02 Funded To: BioIron Society Project Title: BioIron 2003 World Congress on Iron Metabolism at the National Institutes of Health, Bethesda, MD.
Date Funded: 4/02 Funded To: Jeffrey M. Lipton, M.D., PhD, Schneider Children's Hospital, NY Project Title: The Diamond-Blackfan Anemia Registry: A Tool for Investigating the Epidemiology of Diamond-Blackfan Anemia.
Date Funded: 2/02 Funded To: Daniella Maria Arturi Foundation Project Title: The Diamond Blackfan Anemia Fourth International Consensus Conference Project.
Date Funded: 11/02 Funded To: Dr. Gil Tchernia of Bicetre Hospital, France. Project Title: Study the role of ribosomal protein S19 (RPS19).
Date Funded: 12/01 Funded To: Dr. Stefan Karlsson, Lund University, Lund, Sweden Project Title: Diamond-Blackfan Anemia Hematopoiesis and Gene Therapy.
Date Funded: 5/01 Funded To: Dr. Niklas Dahl, Uppsala University Children's Hospital, Sweden Project Title: Continuation of "Functional and therapeutic investigations of the ribosomal protein S19 in Diamond-Blackfan Anemia."
Date Funded: 12/00 Funded To: Dr. Stefan Karlsson & Dr. Isao Hamaguchi, Lund University, Lund, Sweden Project Title: "Development of Gene Therapy for Diamond Blackfan Anemia".
Date Funded: 12/00 Funded To: Jeffrey M. Lipton, M.D., PhD, Schneider Children's Hospital, NY Project Title: "Diamond Blackfan Anemia Registry".
Date Funded: 5/00 Funded To: Dr. Niklas Dahl, Uppsala University Children's Hospital. Sweden Project Title: Continuation of "Functional and therapeutic investigations of the ribosomal protein S19 in Diamond-Blackfan Anemia."
Date Funded: 12/99 Funded To: Drs. Narla Mohandas and T.N. Willig, Lawrence Berkeley National Laboratory, Berkeley, CA Project Title: "Diamond Blackfan Anemia."
Date Funded: 8/99 Funded To: Dr. Colin Sieff, Dana Farber Cancer Institute, MA Project Title: "Identification of Interacting Proteins in Diamond Blackfan Anemia."
Date Funded: 3/99 Funded To: Dr. Niklas Dahl, Uppsala University Children's Hospital. Sweden Project Title: "Functional and therapeutic investigations of the ribosomal protein S19 in Diamond-Blackfan Anemia."
Date Funded: 12/98 Funded To: Douglas Templeton, M.D., PhD, University of Toronto, Canada Project Title: "Influence of iron overload and chelation on gene expression related to cardiac fibrosis".
Date Funded: 3/98 Funded To: Dr. Niklas Dahl, Uppsala University Children's Hospital, Sweden Project Title: "Identification of the gene behind Diamond-Blackfan Anemia".
Date Funded: 12/96 Funded To: Jeffrey M. Lipton, M.D., PhD, Mount Sinai Hospital, NY Project Title: "Diamond Blackfan Anemia Registry".
Date Funded: 5/96 Funded To: The University of Texas, Southwestern Medical Center at Dallas Project Title: "Evaluation of High Dose Oral Methylprednisolone Therapy for Patients with Diamond-Blackfan Anemia Refractory to Conventional Doses of Steroids: A Multi-Institutional International Study".
Date Funded: 12/95 Funded To: Mount Sinai Hospital, Jeffrey M. Lipton, M.D., PhD. Project Title:" Diamond Blackfan Anemia Registry".