Understanding how ribosome mutations cause specific health issues in Diamond Blackfan Anemia.
Official title: Investigating and targeting the translational landscape of DBA
Funded at Stanford University · NIH-11136935 · Data updated 2026-11-12
This study is looking at how changes in certain proteins can cause health issues for people with Diamond Blackfan Anemia, a condition that affects how your body makes blood cells, to help us understand why these changes lead to problems like bone marrow failure.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Stanford University NIH-funded |
| Lab location | 1 site (Stanford, United States) |
| Project start | August 1, 2024 |
| Project end | May 31, 2029 |
| Funding year | 2025 |
| Award (this year) | $672,665 |
| NIH project number | 5R01DK136961-02 |
| Project ID | NIH-11136935 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Diamond Blackfan Anemia or related ribosomopathies.
✕Less likely to help
Patients with conditions unrelated to ribosomal dysfunction or those without a diagnosis of Diamond Blackfan Anemia may not benefit from this research.
What this research studies
This research investigates how mutations in ribosomal proteins lead to specific health problems in patients with Diamond Blackfan Anemia (DBA), a condition that primarily affects blood cell production. The team will explore the role of translational control and protein synthesis in the hematopoietic system, focusing on how these mutations impact gene expression and contribute to symptoms like bone marrow failure. By examining the connections between ribosomal protein mutations and the resulting cellular dysfunction, the research aims to uncover the mechanisms behind DBA's tissue-specific manifestations.
Why it matters
Potential benefit: If successful, this research could lead to new insights and potential therapies for patients suffering from Diamond Blackfan Anemia.
How similar studies have gone: While ribosomopathies have been studied, this research aims to explore novel aspects of translational control that have not been previously examined in depth.
Where this research is happening
-
Stanford University
Stanford, United States Active
Researchers
- Principal investigator: Barna, Maria — Stanford University
- Study coordinator: Barna, Maria
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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.