How changes in the SF3B1 gene affect blood-forming stem cells
Functional and molecular consequences of SF3B1 mutations in human hematopoietic stem cells
This work looks at how SF3B1 gene changes alter blood stem cells in people with clonal hematopoiesis or myelodysplastic syndromes.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-11380748 on NIH RePORTER |
What this research studies
From a patient's point of view, the team will use patient-derived blood stem cells and precise gene editing to see which RNAs are mis-spliced when SF3B1 is changed. They will combine functional genomics with lab models to find the specific mis-spliced genes that help mutant stem cells expand and block normal blood development. The goal is to pinpoint targets and test strategies that correct harmful splicing while leaving normal splicing intact. Findings may guide new treatments to stop clonal expansion or progression to MDS.
Who could benefit from this research
Good fit: People with myelodysplastic syndromes or clonal hematopoiesis who carry SF3B1 mutations would be the most relevant candidates to contribute samples or join follow-up studies.
Not a fit: Patients whose blood disorders are caused by other genes or unrelated conditions are unlikely to benefit directly from findings specific to SF3B1.
Why it matters
Potential benefit: If successful, this work could point to targeted ways to prevent or treat SF3B1-driven clonal blood disorders and myelodysplastic syndromes.
How similar studies have performed: Previous research has shown SF3B1 mutations change RNA splicing in MDS, but directly correcting pathogenic mis-splicing for therapy remains largely unproven and is an emerging area.
Where this research is happening
New York, United States
- Columbia University Health Sciences — New York, United States (Active)
Researchers
- Principal investigator: Doulatov, Sergei — Columbia University Health Sciences
- Study coordinator: Doulatov, Sergei
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.