Understanding how specific gene mutations affect blood cell production in children
Official title: Elucidating function of disease-related SAMD9L mutations in hematopoiesis
Funded at St. Jude Children's Research Hospital · NIH-10843929 · Data updated 2026-11-12
This study is looking at how changes in the SAMD9L gene affect blood cell production in kids with bone marrow failure, using special tools to better understand these changes and find new ways to help them.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | St. Jude Children's Research Hospital NIH-funded |
| Lab location | 1 site (Memphis, United States) |
| Project start | June 1, 2023 |
| Project end | May 31, 2026 |
| Funding year | 2024 |
| Award (this year) | $90,000 |
| NIH project number | 5K99DK135910-02 |
| Project ID | NIH-10843929 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children with hereditary blood disorders, particularly those with mutations in the SAMD9L gene.
✕Less likely to help
Patients without SAMD9L mutations or those not affected by blood cell production disorders may not benefit from this research.
What this research studies
This research investigates the impact of mutations in the SAMD9L gene on blood cell production, particularly in children with bone marrow failure. By using advanced techniques like CRISPR/Cas9, the researchers are creating models to study how these mutations disrupt normal hematopoiesis, which is the process of forming blood cells. The study aims to uncover the molecular mechanisms behind these mutations and their effects on blood cell development, potentially leading to new insights into treatment options for affected children.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment options for children suffering from blood disorders related to SAMD9L mutations.
How similar studies have gone: Other research has shown promising results in understanding gene mutations related to blood disorders, suggesting that this approach could yield valuable insights.
Where this research is happening
-
St. Jude Children's Research Hospital
Memphis, United States Active
Researchers
- Principal investigator: Sahoo, Sushree S — St. Jude Children's Research Hospital
- 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.