Whole-genome sequencing to refine risk in myelodysplastic syndromes (MDS) for older adults
Official title: Whole Genome Sequencing for Genomic Evaluation and Risk Stratification of Patients with Myelodysplastic Syndromes
Funded at Washington University · NIH-11415218 · Data updated 2026-11-12
This project uses clinical whole-genome sequencing to improve genetic profiling and better predict how MDS will progress in older patients.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project start | September 15, 2022 |
| Project end | August 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $388,750 |
| NIH project number | 5UH3CA272904-03 |
| Project ID | NIH-11415218 on NIH RePORTER |
Who could benefit from this research
✓Could help
Older adults diagnosed with myelodysplastic syndromes who are candidates for genetic risk profiling.
✕Less likely to help
Patients whose disease biology does not show actionable genomic features or who are not evaluated with whole-genome sequencing may see limited direct benefit.
What this research studies
If you or a loved one has myelodysplastic syndrome, this project aims to enhance how doctors classify risk and guide treatment by using a comprehensive genome test for bone marrow samples. The researchers will build on an existing, CAP/CLIA-compliant sequencing method called ChromoSeq to capture chromosomal changes with higher resolution than standard tests. By identifying additional cytogenetic events and refining risk predictions, doctors can tailor therapies to balance effectiveness with potential toxicity. The study focuses on patients with MDS, some of whom may also face progression to acute myeloid leukemia, and seeks to improve survival and quality of life through smarter treatment choices.
Why it matters
Potential benefit: If successful, patients with MDS could receive more personalized treatment plans that target the underlying genetic risk, potentially slowing disease progression and reducing unnecessary aggressive therapies.
How similar studies have gone: Prior work with ChromoSeq showed 100% sensitivity for detecting clinically relevant cytogenetic abnormalities and revealed additional findings not seen with standard tests.
Where this research is happening
-
Washington University
Saint Louis, United States Active
Researchers
- Principal investigator: Duncavage, Eric J — Washington University
- Study coordinator: Duncavage, Eric J
Related research
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A research project aims to find new ways to treat myelodysplastic syndromes by blocking a protein (gasdermin D) involved in harmful bone marrow inflammation.
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Understanding why some MDS patients relapse after a stem cell transplant
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Risk factors and inflammation biomarkers for cardiovascular disease in older adults with myelodysplastic syndromes
A study focuses on older adults with myelodysplastic syndromes to understand why they have higher cardiovascular risk and how inflammatory proteins in the blood might help predict it.
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Therapeutic targeting of transcription-epigenetic defects in SF3B1-mutant MDS
A training-focused grant to help a clinician-scientist develop therapies for adults with a common bone marrow failure condition called SF3B1-mutant myelodysplastic syndrome (MDS).
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PARP1 and targeted treatment for myelodysplastic syndromes
This work tests whether blocking a protein called PARP1 can help people with myelodysplastic syndromes who have certain RNA splicing gene mutations.
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.