Stem cell problems in Diamond-Blackfan anemia
Official title: Hematopoietic stem cell defects in Diamond-Blackfan Anemia
Funded at St. Jude Children's Research Hospital · NIH-11481769 · Data updated 2026-11-12
This project looks at why blood-forming stem cells don't work well in Diamond-Blackfan anemia by studying the common RPS19 gene change and its effects on TP53 and PRC2 pathways.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| 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 | February 28, 2029 |
| Funding year | 2026 |
| Award (this year) | $248,999 |
| NIH project number | 4R00DK134844-03 |
| Project ID | NIH-11481769 on NIH RePORTER |
Who could benefit from this research
✓Could help
Children with Diamond-Blackfan anemia, especially those with known RPS19 mutations or evidence of impaired stem cell function, would be the most relevant for sample donation or future participation.
✕Less likely to help
People without DBA or whose anemia has a different cause are unlikely to benefit directly from this project.
What this research studies
If you or your child has Diamond-Blackfan anemia, researchers are recreating the RPS19 gene change seen in patients inside human blood-forming stem cells using CRISPR, then watching how those cells behave in the lab and after transplantation into mice. They measure which genes are turned on or off and test whether blocking TP53 or restoring PRC2 activity can fix the stem cell and red blood cell problems. The team uses human CD34+ stem/progenitor cells and xenotransplant experiments to model long-term bone marrow function. The goal is to link the genetic defect to specific molecular pathways that could be targeted by future treatments.
Why it matters
Potential benefit: If successful, this work could identify pathways to protect or restore stem cell function and point to new treatment strategies for people with DBA.
How similar studies have gone: Previous lab and animal studies have shown that inhibiting TP53 can rescue red blood cell production in ribosomal protein-deficient models, but translating those findings into human stem cell therapies is still experimental.
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.