Understanding blood and immune problems in ZTTK syndrome
Genetic and molecular basis of hematopoietic abnormalities in ZTTK syndrome
This project is looking at how changes in the SON gene cause blood and immune problems in children and adults with ZTTK syndrome.
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 ID | NIH-11251965 on NIH RePORTER |
What this research studies
Researchers are studying how loss of the SON gene leads to abnormal blood cell development and immune problems seen in people with ZTTK syndrome. They use laboratory mouse models that mimic SON loss together with molecular and genetic tests on cells and samples to map the underlying changes. The team is also linking those molecular findings back to clinical information from affected children and adults to better understand symptoms and risks. The work aims to pinpoint the mechanisms causing blood abnormalities so future treatments or monitoring strategies can be developed.
Who could benefit from this research
Good fit: Ideal candidates are children or adults diagnosed with ZTTK syndrome or carrying damaging SON gene variants, especially those who have blood or immune abnormalities.
Not a fit: People without SON mutations or whose blood/immune issues stem from unrelated conditions are unlikely to directly benefit from this project.
Why it matters
Potential benefit: If successful, this work could improve diagnosis, monitoring, and lead to targeted approaches to prevent severe infections and blood problems in people with ZTTK syndrome.
How similar studies have performed: This is a relatively new focus for ZTTK syndrome but uses established genetic and mouse-model methods that have clarified causes and guided treatments for other rare genetic disorders.
Where this research is happening
Birmingham, United States
- 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
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 below.