Supported Research
Engineering Fanconi Anemia Hematopoietic Stem Cells from Human iPS Cells
Amount Funded: $175,000
Current therapy for FA is limited to allogeneic stem cell transplantation (SCT), a process associated with significant morbidity and mortality, particularly when an ideally matched donor is not readily available. Therefore, novel therapies that improve or replace SCT are needed. Progress in FA therapy has been hampered by the lack of disease models that faithfully recapitulate the defective blood formation that is the hallmark of FA. Our laboratory has developed a novel system wherein human skin cells can be converted to blood-forming stem cells and grown in mouse hosts, recapitulating normal blood formation. This system is a significant advance over previous models in that engineered blood cells can form all functional mature blood cells. Past efforts to use FA patient cells in such models have been impeded by the resistance of FA cells to be ‘reprogrammed’ to acquire the stem cell characteristics necessary to direct them to become blood-forming cells. We have proposed a novel methodology whereby the FA genetic defect is temporarily repaired to permit reprogramming of FA patient cells to blood cells, followed by a reversal of this repair to study disease mechanisms. Using this strategy along with our model of human blood formation has the potential to provide a powerful tool for understanding the defects in human FA blood formation, and may provide a system for testing new drugs. Furthermore, showing that repair of the FA genetic defect can permit FA cell reprogramming to blood and normal human blood formation might provide proof-of-principle for gene therapy studies.
Researchers: George Q. Daley , Grant Rowe