How SAMD9L gene changes harm blood stem cells in children
Official title: Elucidating function of disease-related SAMD9L mutations in hematopoiesis
Funded at Virginia Polytechnic Inst and St Univ · NIH-11456712 · Data updated 2026-11-12
This project looks at how changes in the SAMD9L gene damage blood-forming stem cells in children with inherited bone marrow failure and pediatric myelodysplastic syndrome.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Virginia Polytechnic Inst and St Univ NIH-funded |
| Lab location | 1 site (Blacksburg, United States) |
| Project start | June 1, 2023 |
| Project end | January 31, 2029 |
| Funding year | 2026 |
| Award (this year) | $248,999 |
| NIH project number | 4R00DK135910-03 |
| Project ID | NIH-11456712 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal participants would be children or families with known germline SAMD9L mutations or diagnosed inherited bone marrow failure or pediatric myelodysplastic syndrome who can provide clinical information or biological samples.
✕Less likely to help
Patients without SAMD9L-related disease or those seeking an immediate clinical treatment are unlikely to receive direct benefit from this laboratory-focused research.
What this research studies
Researchers will study blood-forming stem cells made from patients' cells and use mice engineered to carry SAMD9L changes to follow how those changes affect blood production. They will examine how cellular stress responses, metabolism, and inflammatory signals cause stem cell dysfunction. The team will combine genetic tests, cell-based experiments, and functional assays to link faulty SAMD9L to disease progression. Results are meant to reveal key pathways that could guide future therapies.
Why it matters
Potential benefit: If successful, this work could point to biological targets for new treatments that protect or restore healthy blood formation in affected children.
How similar studies have gone: Other studies have linked SAMD9L mutations to inherited bone marrow failure, but using patient-derived stem cells together with engineered mouse models to define the cellular mechanisms is a more recent and developing approach.
Where this research is happening
-
Virginia Polytechnic Inst and St Univ
Blacksburg, United States Active
Researchers
- Principal investigator: Sahoo, Sushree S — Virginia Polytechnic Inst and St Univ
- Study coordinator: Sahoo, Sushree S
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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.