Understanding Myelodysplastic Syndromes Caused by DDX41 Gene Changes
Official title: Advanced Mouse Models of DDX41-mutated Myelodysplastic Syndromes
Funded at Cincinnati Childrens Hosp Med Ctr · NIH-11132896 · Data updated 2026-11-12
This research explores how specific changes in the DDX41 gene lead to a blood disorder called Myelodysplastic Syndrome, using advanced laboratory models.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Cincinnati Childrens Hosp Med Ctr NIH-funded |
| Lab location | 1 site (Cincinnati, United States) |
| Project start | August 1, 2024 |
| Project end | May 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $120,375 |
| NIH project number | 5R03DK140185-02 |
| Project ID | NIH-11132896 on NIH RePORTER |
Who could benefit from this research
✓Could help
This foundational research is relevant to patients diagnosed with Myelodysplastic Syndromes, particularly those with known DDX41 gene mutations.
✕Less likely to help
Patients whose MDS is not linked to DDX41 gene mutations may not directly benefit from the specific findings of this particular research.
What this research studies
Myelodysplastic Syndromes (MDS) are blood disorders where the body's blood-forming cells don't work correctly, leading to a shortage of healthy blood cells. Some people inherit a change in a gene called DDX41, which makes them more likely to develop MDS later in life. This project uses special laboratory models to understand exactly how these DDX41 gene changes, especially when combined with another specific mutation, cause problems in blood cell development. By studying these mechanisms, we hope to uncover why the disease develops and progresses.
Why it matters
Potential benefit: If successful, this work could lead to a better understanding of how DDX41 mutations cause MDS, potentially paving the way for new ways to prevent or treat this condition.
How similar studies have gone: Previous studies have identified DDX41 mutations as a cause of inherited MDS, and initial work with these new laboratory models has already shown promising insights into cellular changes.
Where this research is happening
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Cincinnati Childrens Hosp Med Ctr
Cincinnati, United States Active
Researchers
- Principal investigator: Chlon, Timothy Michael — Cincinnati Childrens Hosp Med Ctr
- Study coordinator: Chlon, Timothy Michael
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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.