Whole-genome testing to improve risk predictions in myelodysplastic syndromes
Official title: Whole Genome Sequencing for Genomic Evaluation and Risk Stratification of Patients with Myelodysplastic Syndromes
Funded at Washington University · NIH-11250177 · Data updated 2026-11-12
Whole-genome sequencing is used to find genetic changes that help predict which people with myelodysplastic syndromes (MDS) are more likely to progress to acute leukemia.
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 | 2025 |
| Award (this year) | $388,750 |
| NIH project number | 4UH3CA272904-02 |
| Project ID | NIH-11250177 on NIH RePORTER |
Who could benefit from this research
✓Could help
Adults diagnosed with myelodysplastic syndromes who can provide bone marrow or blood samples and agree to clinical follow-up are the ideal participants.
✕Less likely to help
People without MDS, those with unrelated blood disorders, or patients unable or unwilling to provide clinical samples or follow-up are unlikely to get direct benefit from this work.
What this research studies
If you have MDS, doctors would use a clinical whole-genome sequencing test called ChromoSeq on your bone marrow or blood to look for chromosomal deletions, duplications, and other genetic changes. This approach gives much higher resolution than standard karyotyping and can find abnormalities that routine tests sometimes miss. The team will compare WGS results with standard cytogenetics to refine each person’s genetic risk profile and better predict progression to acute myeloid leukemia. The testing is done under clinical lab standards (CAP/CLIA) so results are handled in a clinically appropriate way.
Why it matters
Potential benefit: It could provide more accurate genetic risk profiles to help doctors time treatment better, possibly improving outcomes and avoiding unnecessary aggressive therapy.
How similar studies have gone: Earlier validation of the ChromoSeq WGS test showed 100% sensitivity for key cytogenetic abnormalities in AML and found extra events in up to 25% of patients, so this applies a validated method to MDS.
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
Other NIH-funded projects on the same topics.
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Interferon-γ plus donor immune cells to fight AML/MDS after partial donor transplant
This project tests a therapy that adds a signaling protein, IFN-γ, with donor immune cells to help treat relapsed AML/MDS after a haploidentical stem cell transplant.
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Whole-genome sequencing to refine risk in myelodysplastic syndromes (MDS) for older adults
This project uses clinical whole-genome sequencing to improve genetic profiling and better predict how MDS will progress in older patients.
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Targeting gasdermin D to treat myelodysplastic syndromes in people with bone marrow inflammation
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
A study of patients with myelodysplastic syndromes after stem cell transplant to learn the cellular changes and gene activity that lead to relapse, with the goal of guiding future treatments.
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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.
-
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).
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.