How DDX41 helps keep DNA shapes normal during red blood cell formation
Functional roles of DDX41 in the homeostasis of G quadruplexes in erythropoiesis
This project looks at how changes in the DDX41 gene lead to abnormal DNA structures that disrupt red blood cell production in people at risk for myelodysplastic syndromes.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Northwestern University NIH-funded |
| Lab location | 1 site (Chicago, United States) |
| Project ID | NIH-11181581 on NIH RePORTER |
What this research studies
From your perspective, researchers are following clues that certain inherited changes in the DDX41 gene raise the chance of developing myelodysplastic syndromes (MDS). They will examine unusual DNA shapes called G-quadruplexes in blood-forming cells and see how losing DDX41 causes those shapes to build up. The team will use lab-grown human blood cells, patient-derived samples where available, and mice engineered to lack Ddx41 in blood cells to watch how red blood cell development breaks down. Their goal is to map the chain of events so future tests or treatments can target the underlying problem.
Who could benefit from this research
Good fit: People with myelodysplastic syndromes, a family history of MDS, or known germline or somatic DDX41 mutations would be the most relevant candidates to contribute samples or be considered for related future trials.
Not a fit: Patients with blood disorders that are unrelated to DDX41 mutations or those without relevant mutations are unlikely to get direct benefit from this specific work.
Why it matters
Potential benefit: If successful, this work could identify molecular targets or biomarkers that help prevent or treat DDX41-related MDS and improve diagnosis for people with DDX41 mutations.
How similar studies have performed: Related laboratory studies show DDX-family proteins can unwind G-quadruplexes and the investigators' preliminary mouse and cell data support a role for DDX41, but clinical therapies for DDX41-mutant MDS do not yet exist.
Where this research is happening
Chicago, United States
- Northwestern University — Chicago, United States (Active)
Researchers
- Principal investigator: Ji, Peng — Northwestern University
- Study coordinator: Ji, Peng
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.