Investigating blood cell formation issues in Diamond-Blackfan Anemia
Official title: Hematopoietic stem cell defects in Diamond-Blackfan Anemia
Funded at St. Jude Children's Research Hospital · NIH-11056856 · Data updated 2026-11-12
This study is looking at how certain gene changes in kids with Diamond-Blackfan Anemia affect their blood cell production, and it aims to find new ways to help improve their blood health.
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 | April 1, 2024 |
| Project end | March 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $90,000 |
| NIH project number | 5K99DK134844-02 |
| Project ID | NIH-11056856 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children under 11 years old diagnosed with Diamond-Blackfan Anemia.
✕Less likely to help
Patients with Diamond-Blackfan Anemia who are older than 11 years or those with different underlying causes of anemia may not benefit from this research.
What this research studies
This research focuses on Diamond-Blackfan Anemia (DBA), a rare inherited disorder that affects blood cell production, particularly in young children. The study aims to understand how mutations in specific ribosomal protein genes, especially RPS19, lead to defects in hematopoietic stem cells (HSCs). By using advanced techniques like Cas9 gene editing, researchers will create models to observe how these mutations impact blood cell formation and overall stem cell function. The findings could provide insights into potential therapies for improving blood production in affected patients.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that enhance blood cell production in children with Diamond-Blackfan Anemia.
How similar studies have gone: Previous research has shown promising results in understanding hematopoietic stem cell defects in similar genetic conditions, 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: Bhoopalan, Senthil Velan — St. Jude Children's Research Hospital
- Study coordinator: Bhoopalan, Senthil Velan
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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.