How a specific mutation in the ETV6 gene affects blood cell production
Official title: Unexpected mechanism underlying mislocalization of thrombocytopenia-associated ETV6 point mutation
Funded at Ut Southwestern Medical Center · NIH-11004105 · Data updated 2026-11-12
This study is looking at a gene called ETV6 that affects how our blood cells, especially platelets, are made and how a specific mutation can lead to lower platelet counts and a higher chance of blood cancers, which could help patients with ETV6 mutations understand their condition better and find new ways to manage it.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Ut Southwestern Medical Center NIH-funded |
| Lab location | 1 site (Dallas, United States) |
| Project start | January 31, 2023 |
| Project end | January 30, 2026 |
| Funding year | 2025 |
| Award (this year) | $46,839 |
| NIH project number | 5F30HL167629-03 |
| Project ID | NIH-11004105 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with inherited mutations in the ETV6 gene, particularly those experiencing low platelet counts or at risk for blood cancers.
✕Less likely to help
Patients without ETV6 mutations or those not affected by blood cell production issues may not benefit from this research.
What this research studies
This research investigates the ETV6 gene, which plays a crucial role in the development and maintenance of blood cells, particularly platelets. It focuses on a specific mutation that causes the ETV6 protein to be mislocalized, leading to lower platelet counts and a higher risk of blood cancers. By studying animal models, the research aims to uncover the underlying mechanisms of this mutation and its effects on blood cell production. Patients with inherited mutations in ETV6 may benefit from insights gained through this research, potentially leading to better management of their conditions.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment options for patients with thrombocytopenia and related blood disorders.
How similar studies have gone: Previous research has shown that understanding genetic mutations can lead to significant advancements in treatment for blood disorders, indicating a promising avenue for this investigation.
Where this research is happening
-
Ut Southwestern Medical Center
Dallas, United States Active
Researchers
- Principal investigator: Mcconville, Michael R — Ut Southwestern Medical Center
- Study coordinator: Mcconville, Michael R
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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.