Understanding genetic causes of congenital dyserythropoietic anemia
Official title: Novel Mechanisms of Congenital Dyserythropoietic Anemia
Funded at Research Inst Nationwide Children's Hosp · NIH-11089193 · Data updated 2026-11-12
This study is looking into how certain genes affect the production of red blood cells in people with congenital dyserythropoietic anemia (CDA), using special techniques in mice to better understand how changes in these genes can impact blood cell development.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Research Inst Nationwide Children's Hosp NIH-funded |
| Lab location | 1 site (Columbus, United States) |
| Project start | January 23, 2025 |
| Project end | July 31, 2025 |
| Funding year | 2023 |
| Award (this year) | $386,407 |
| NIH project number | 7R01DK111539-05 |
| Project ID | NIH-11089193 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with congenital dyserythropoietic anemia or those with a family history of the condition.
✕Less likely to help
Patients with other forms of anemia not related to congenital dyserythropoietic anemia may not benefit from this research.
What this research studies
This research investigates the genetic mechanisms behind congenital dyserythropoietic anemia (CDA), a condition affecting red blood cell production. The study focuses on two key proteins, codanin-1 and MACF1, to understand their roles in erythropoiesis, the process of red blood cell formation. Researchers will utilize advanced techniques, including CRISPR/Cas9 gene editing in mouse models, to explore how mutations in these proteins affect blood cell development. By examining both human and mouse erythroid cells, the research aims to uncover new insights into the disease's pathophysiology.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and potential treatments for patients with congenital dyserythropoietic anemia.
How similar studies have gone: While the specific mechanisms of codanin-1 and MACF1 in CDA are being explored, similar genetic studies have shown promise in understanding other hematological conditions.
Where this research is happening
-
Research Inst Nationwide Children's Hosp
Columbus, United States Active
Researchers
- Principal investigator: Gallagher, Patrick G — Research Inst Nationwide Children's Hosp
- Study coordinator: Gallagher, Patrick G
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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.