Federal Project Grant Award Summary

Yale University received a $249,999 Project Grant award from the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) under the Diabetes, Digestive, and Kidney Diseases Extramural Research program (CFDA 93.847), effective July 1, 2026, through June 30, 2027. The award supports basic biomedical research investigating the mechanisms of transcriptional dysregulation in myelodysplastic syndromes (MDS) associated with SF3B1 mutations. The research will employ multi-color, single-molecule imaging and CRISPR/Cas9 genetic engineering techniques to examine how HTATSF1 protein—which functions in both splicing and transcription—interacts with mutant SF3B1 and regulates the coordination between transcription and splicing in primary murine embryonic stem cells.

The project is designed to advance understanding of how splicing factor mutations drive MDS, a heterogeneous bone marrow failure syndrome, by defining the role of transcriptional dysregulation in disease pathogenesis. The research deliverables include two primary aims that will characterize HTATSF1 recruitment and interaction kinetics in real time, with the ultimate goal of elucidating therapeutic targets for MDS treatment. Work will be performed at Yale University's New Haven, Connecticut facility.