NIH R01 · 2024
Biologic and Therapeutic Consequences of Distinct Hotspot SF3B1 Mutations in MDS
Project Summary The myelodysplastic syndromes (MDS) are the most common clonal blood disorders, characterized by dominance of the bone marrow by abnormal stem cells and impairment of blood cell production. Patients with MDS suffer from combinations of anemia, infection, bleeding, and multiorgan failure from progressive disease. Outcomes are poor, and treatments are inadequate. Key to developing new treatments is better understanding of the mutations which create these diseases. Roughly half of MDS patients have mutations in spliceosome genes, and of these, SF3B1 is the most commonly mutated. Mutant SF3B1 is neomorphic, disrupting RNA splicing to create what we refer to as JEMs (splice…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.