The Diamond Blackfan Anemia Foundation is proud to support the very important work of Vijay G. Sankaran, M.D., Ph.D. of Boston Children’s Hospital. The DBAF has provided $36,000 to fund Dr. Sankaran’s research project entitled, Defining GATA1 Transcriptional Alterations in Diamond-Blackfan Anemia. In addition to his clinical responsibilities, Dr. Sankaran is an outstanding investigator and was a leader in the studies leading to the discovery of GATA1 as a DBA gene. He has since shown that ribosomal protein haploinsufficiency affects GATA1 expression, tying together the two seemingly disparate themes emerging in Diamond Blackfan Anemia.
Dr. Sankaran stated,
As a physician-scientist, I care for children with Diamond-Blackfan anemia and our laboratory works to better understand the reasons that red blood cell production is impaired in this condition. Our laboratory is truly grateful for this award from the DBA Foundation, particularly since it comes from the families whose children and loved ones have DBA and who serve as inspiration for our work. We are truly grateful for all the support we have received from the DBA Foundation to pursue our work, including the identification of GATA1 mutations in DBA. Our laboratory has recently shown that the more common ribosomal protein mutations found in DBA impair GATA1 translation and thereby affect the activity of this factor. This award will allow us to better understand the role of GATA1 in the altered red blood cell production observed in DBA. We ultimately hope that this work will lead to targeted strategies to boost GATA1 production and thereby treat the impaired red blood cell production in DBA.
It has been known for many years that GATA1 is a transcription factor required for erythroid development. It is responsible for turning on and off the expression of genes required for hematopoietic stem cells to differentiate along the erthroid lineage. In contrast to the ribosomal protein genes, the finding that GATA1 is affected in certain DBA patients makes a great deal of sense in terms of the clinical phenotype observed in DBA. Many investigators over the years have examined genes regulated by GATA1. In this funded research project, Dr. Sankaran plans a similar strategy, but will do this in a system specifically designed to identify genes that GATA1 regulates during erythroid development. Understanding genes controlled by GATA1, specifically during erythroid development, could give insight into what goes wrong in patients, and consequently, could lead to improved treatments.