Why blood-forming stem cells become unstable in myelodysplastic syndromes
Causes and consequences of genomic instability in myelodysplasia
['FUNDING_R01'] · FRED HUTCHINSON CANCER CENTER · NIH-11177051
This project looks at how certain genetic changes and persistent RNA:DNA hybrids damage blood-forming stem cells in people with myelodysplastic syndromes to guide new treatments.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | FRED HUTCHINSON CANCER CENTER (nih funded) |
| Locations | 1 site (SEATTLE, UNITED STATES) |
| Trial ID | NIH-11177051 on ClinicalTrials.gov |
What this research studies
From a patient's perspective, scientists will examine bone marrow and blood-forming stem cells to see how mutations in splicing genes (for example SRSF2, U2AF1, SF3B1, ZRSR2) lead to harmful RNA:DNA hybrid structures called R-loops. They will analyze patient samples alongside laboratory models to track resulting DNA breaks and genomic instability. The team plans to map the molecular steps that cause marrow failure and progression toward leukemia. This work mixes genetic analysis, molecular biology, and model-system experiments to point toward possible therapeutic targets.
Who could benefit from this research
Good fit: People diagnosed with myelodysplastic syndromes—particularly older adults and those whose genetic testing shows mutations in splicing-factor genes—would be the most relevant candidates.
Not a fit: People without MDS or whose blood problems are caused by unrelated conditions are unlikely to receive direct benefit from this specific work.
Why it matters
Potential benefit: If successful, this research could identify new molecular targets to slow disease progression or lead to treatments that reduce anemia and the need for transplantation.
How similar studies have performed: Prior laboratory studies have linked splicing-factor mutations to increased R-loops and DNA damage, but translating those findings into effective patient treatments has not yet been achieved.
Where this research is happening
SEATTLE, UNITED STATES
- FRED HUTCHINSON CANCER CENTER — SEATTLE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: LEE, STANLEY CHUN-WEI — FRED HUTCHINSON CANCER CENTER
- Study coordinator: LEE, STANLEY CHUN-WEI
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.
Conditions: Blood Diseases