Identifying harmful and harmless genetic variations in blood cancer predisposition genes
Official title: Discriminating Pathogenic from Benign Alleles of Myelodysplastic Syndrome Predisposition Genes
Funded at University of Wisconsin-Madison · NIH-11090449 · Data updated 2026-11-12
This study is looking at how certain changes in a gene called DDX41 might affect the chances of developing blood disorders like myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML), so that doctors can provide better advice and support for patients at risk.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Wisconsin-Madison NIH-funded |
| Lab location | 1 site (Madison, United States) |
| Project start | May 20, 2024 |
| Project end | March 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $194,375 |
| NIH project number | 5R21AI186406-02 |
| Project ID | NIH-11090449 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with a family history of myelodysplastic syndrome or acute myeloid leukemia, particularly those who have undergone genetic testing.
✕Less likely to help
Patients without any known genetic predisposition to blood cancers or those who do not have a family history of these conditions may not benefit from this research.
What this research studies
This research investigates how specific genetic variations in the DDX41 gene influence the risk of developing myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). By using advanced genome editing techniques on mouse blood progenitor cells, the researchers aim to understand the functional impact of these genetic changes. They will also employ machine learning to analyze the relationship between DDX41 variants and their clinical significance, helping to distinguish between harmful and benign mutations. This work could lead to better genetic counseling and risk assessment for patients with these blood disorders.
Why it matters
Potential benefit: If successful, this research could improve the ability to predict which patients are at higher risk for developing blood cancers based on their genetic makeup.
How similar studies have gone: Previous research has successfully identified genetic variants associated with blood cancers, suggesting that this approach has the potential for significant breakthroughs.
Where this research is happening
-
University of Wisconsin-Madison
Madison, United States Active
Researchers
- Principal investigator: Bresnick, Emery H — University of Wisconsin-Madison
- Study coordinator: Bresnick, Emery H
Related research
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Investigating CCRL2's role in myelodysplastic syndrome
This study is looking at how a specific gene called CCRL2 affects the growth of harmful cells in myelodysplastic syndrome (MDS), especially in men, to find new ways to improve treatment for people with this blood disorder.
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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.