How specific SF3B1 gene mutations change myelodysplastic syndromes
Biologic and Therapeutic Consequences of Distinct Hotspot SF3B1 Mutations in MDS
Researchers are comparing how different changes in the SF3B1 gene affect blood cell production and treatment responses in people with myelodysplastic syndromes (MDS).
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project ID | NIH-11118682 on NIH RePORTER |
What this research studies
As a patient, this work looks at different SF3B1 gene changes found in MDS to see how each one alters RNA splicing and leads to abnormal blood cells. The team will combine patient samples and clinical records with laboratory models to link specific mutations to symptoms, lab findings, and therapy responses. They will map mutation-linked splicing events (called JEMs) and test how those changes drive disease features in the lab. The goal is to clarify why people with SF3B1 mutations have varied outcomes and to point to mutation-specific management strategies.
Who could benefit from this research
Good fit: People diagnosed with myelodysplastic syndromes, especially those known to carry SF3B1 mutations, are the most relevant candidates for this work.
Not a fit: People without SF3B1 mutations or with non-MDS causes of bone marrow failure are unlikely to receive direct benefit from this specific project.
Why it matters
Potential benefit: If successful, this could help doctors predict disease course and choose more precise treatments based on a patient’s exact SF3B1 mutation.
How similar studies have performed: Previous studies have linked SF3B1 mutations to particular MDS features such as ring sideroblasts, but detailed comparisons of individual hotspot mutations are a newer and more focused effort.
Where this research is happening
Baltimore, United States
- Johns Hopkins University — Baltimore, United States (Active)
Researchers
- Principal investigator: Dalton, William Brian — Johns Hopkins University
- Study coordinator: Dalton, William Brian
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.