Understanding blood cell issues in ZTTK syndrome
Official title: Genetic and molecular basis of hematopoietic abnormalities in ZTTK syndrome
Funded at University of Alabama at Birmingham · NIH-10999424 · Data updated 2026-11-12
This study is looking into how certain gene changes in kids with ZTTK syndrome affect their blood cell production and immune system, using mice to help understand the problem better, with hopes of finding improved ways to diagnose and treat these health issues.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Alabama at Birmingham NIH-funded |
| Lab location | 1 site (Birmingham, United States) |
| Project start | March 15, 2023 |
| Project end | December 31, 2026 |
| Funding year | 2025 |
| Award (this year) | $467,259 |
| NIH project number | 5R01HL168659-03 |
| Project ID | NIH-10999424 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include children and adults diagnosed with ZTTK syndrome who experience blood cell formation issues.
✕Less likely to help
Patients without ZTTK syndrome or those not experiencing hematopoietic abnormalities may not benefit from this research.
What this research studies
This research investigates the genetic and molecular factors contributing to blood cell formation problems in individuals with ZTTK syndrome, a rare genetic disorder. By studying mouse models with specific genetic modifications, the research aims to uncover how mutations in the SON gene affect blood cell development and immune function. The findings could lead to better diagnosis and treatment options for affected patients, particularly children who face severe health challenges due to these abnormalities.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and management of hematopoietic disorders in patients with ZTTK syndrome.
How similar studies have gone: Previous research on genetic disorders affecting blood cell formation has shown promising results, indicating that this approach could yield valuable insights.
Where this research is happening
-
University of Alabama at Birmingham
Birmingham, United States Active
Researchers
- Principal investigator: Ahn, Erin Eun-Young — University of Alabama at Birmingham
- Study coordinator: Ahn, Erin Eun-Young
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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.