The Diamond Blackfan Anemia Foundation (DBAF) is pleased to announce the funding of another exciting research project. Dr. Jingping Ge, MD, PhD was awarded a $30,000 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.
After completing her postdoctoral fellowship, Dr. Ge became a research associate at Children’s Hospital in Philadelphia (CHOP), and began to explore the pathophysiological mechanism of Diamond Blackfan Anemia. Using iPSCs generated from fibroblasts of DBA patients, the CHOP research group observed defective erythrocyte differentiation and disturbed ribosome biogenesis, and successfully rescued these processes by phenotypic correction. Currently, the group is working on the genotypic correction on these iPSCs, and 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. The idea that TGF-beta may be involved in DBA pathogenesis is a new idea. Dr. Ge stated,
I would like to understand the reasons why DBA develops because this will help in the development of much needed new therapies. I have been working with Drs. Mitch Weiss, Monica Bessler and Phil Mason and we have used a new method to make stem cells from skin cells of DBA patients. These are called iPS cells which stands for induced pluripotent stem cells. This is the best material so far available to study DBA and I have already found some differences in signaling pathways in these cells compared with control cells. With the help of the grant from the DBA foundation I will be able to investigate these pathways in detail with the hope of, one day, finding something that will be useful in understanding or treating DBA.
We sincerely thank our supporters for allowing us to fund this important, novel research project. We are also grateful to Dr. Ge for her interest in DBA and wish her much success!