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11/05 |
A grant for $98,256 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”. |
9/05 |
Steve Ellis, PhD, of the University of Louisville, Kentucky was awarded $14,725 to continue the responsibilities of Research Director. In addition to these responsibilities, the grant will cover expenses for related DBA research. |
9/05 |
Kathleen Miho Sakamoto, MD, PhD. of UCLA School of Medicine (at present Division of Biology, California Institute of Technology) was awarded $25,000 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. |
9/05 |
Dr. Sarah Ball of St. George’s Hospital Medical School in London, England was the recipient of a $76,609.42 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”. |
8/05 |
The DBAF was a Silver Sponsor of the BioIron 2005 World Congress on Iron Metabolism held in Prague, Czech Republic for $10,000 |
3/05 |
The DBAF co-sponsored the Sixth Annual Diamond Blackfan Anemia International Consensus Conference with the Daniella Maria Arturi Conference for $35,000. |
A new study has opened in the Hematology Branch
of the National Institutes of Health in Bethesda, Maryland, called
Investigation of G-CSF-induced stem cell mobilization in patients
with Diamond-Blackfan anemia. This study was designed with the
hope that gene therapy will one day be an effective treatment for
Diamond-Blackfan anemia. This study examines whether people with DBA
have a normal response to a process called "G-CSF-induced stem
cell mobilization". This process combined with a procedure called
Ïleukapheresis is the standard method used to collect the Ïstem cells
that give rise to all the blood cells in the body. Collection of these
stem cells is necessary for successful gene therapy. In order to be
eligible for the trial, those with DBA must be at least 4 years of
age, weigh at least 27 pounds, and be red-cell transfusion dependent.
Detailed information on this trial can be obtained at the NIH website ClinicalTrials.gov under protocol number 01-H-0097, or by
contacting the NIH Patient Recruitment and Public Liaison Office at
telephone number: 1-800-411-1222 or e-mail: prpl@mail.cc.nih.gov
Drs. Colin Sieff and Hanna Gazda, Boston, Massachusetts, have
been researching DBA at the molecular level. They have recently submitted
an update on the progress of their efforts. In the first portion of
the research, these scientists made viruses that contained normal
or mutant RPS19. The viruses were used to carry each of these DNA
segments into the DNA of RBC precursors. The cell type chosen to receive
the viral DNA are red cell precursors that are engineered to differentiate
into RBCs by the addition of estradiol. The introduced viral DNA also
coded for a fluorescent protein that can be used to determine if the
viral portion had been incorporated into the DNA of the cell. Through
these means, it was demonstrated that the various forms of RPS19 were
actually produced by the RBC precursors. However, neither the normal
nor the mutant forms of the protein made a significant difference
in the ability of the cells to divide or to differentiate. One reason
that this phase of the experiment may have failed to demonstrate clear
differences is that the amount of introduced RPS19 may have been small
in comparison with the amount that the cells produced overall. Current
efforts focus on the attempt to introduce a mutant RPS19 into mouse
embryonic stem cells. In the second portion of the research, recombinant
RPS19 protein was made and injected into rabbits. Although some difficulties
were encountered, antibodies to RPS19 were produced and are now undergoing
purification and testing.
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