Understanding how SF3B1 mutations affect blood cell development in myelodysplastic syndromes.
Official title: Charting the differentiation topology of SF3B1 mutated clonal hematopoiesis (CH) and myelodysplastic syndromes (MDS) via a multi-omics single-cell toolkit
Funded at Weill Medical Coll of Cornell Univ · NIH-11014391 · Data updated 2026-11-12
This study is looking at how changes in a specific gene (SF3B1) affect blood cell production in people with myelodysplastic syndromes (MDS), using advanced techniques to understand these changes at the single-cell level, which could help improve treatments for the condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Weill Medical Coll of Cornell Univ NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | February 15, 2022 |
| Project end | January 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $612,596 |
| NIH project number | 5R01HL157387-04 |
| Project ID | NIH-11014391 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are patients diagnosed with myelodysplastic syndromes who have SF3B1 mutations.
✕Less likely to help
Patients without myelodysplastic syndromes or those who do not have SF3B1 mutations may not benefit from this research.
What this research studies
This research investigates the impact of SF3B1 mutations on blood cell formation in patients with myelodysplastic syndromes (MDS). By utilizing advanced single-cell genomic techniques, the study aims to analyze how these mutations influence gene expression and cellular behavior in blood progenitor cells. The approach involves examining individual cells to capture a detailed picture of genetic alterations and their effects on blood cell differentiation. This could lead to a better understanding of the disease and potential new treatment strategies.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnostic and therapeutic options for patients with myelodysplastic syndromes.
How similar studies have gone: Other research has shown promising results using single-cell genomic approaches to understand complex blood disorders, indicating that this methodology is both relevant and potentially impactful.
Where this research is happening
-
Weill Medical Coll of Cornell Univ
New York, United States Active
Researchers
- Principal investigator: Landau, Dan — Weill Medical Coll of Cornell Univ
- Study coordinator: Landau, Dan
Related research
Other NIH-funded projects on the same topics.
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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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Targeting genetic defects in a type of blood disorder called myelodysplastic syndrome.
This study is looking at how changes in the SF3B1 gene affect myelodysplastic syndromes (MDS), a condition that can cause problems with blood cell production, to help find new treatment options that could make life easier for patients with MDS.
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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.
-
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.
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.