Variations in the TBK1 gene can cause autoinflammation.
Official title: Human Heterozygous TBK1 Variations Lead to Autoinflammation
Funded at Columbia University Health Sciences · NIH-11065928 · Data updated 2026-11-12
This study is looking at how changes in a specific gene called TBK1 can cause problems with the immune system, which might lead to inflammation and other health issues, and it's aimed at helping patients who have these genetic variations by finding better ways to diagnose and treat their conditions.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | June 6, 2025 |
| Funding year | 2025 |
| Award (this year) | $73,408 |
| NIH project number | 1F32AI181341-01A1 |
| Project ID | NIH-11065928 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals, both children and adults, who have been diagnosed with autoinflammatory syndromes or have unexplained inflammatory symptoms.
✕Less likely to help
Patients with autoinflammatory conditions not related to TBK1 variations may not benefit from this research.
What this research studies
This research investigates how variations in the TBK1 gene lead to autoinflammatory conditions. By utilizing whole exome sequencing, the study aims to identify genetic variations that disrupt immune system functions, particularly focusing on the role of TBK1 in inflammation and cell death regulation. Patients with these variations may experience significant health challenges, and the research seeks to better understand these mechanisms to improve diagnosis and treatment options. The findings could help in developing targeted therapies for those affected by related rare diseases.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and treatment strategies for patients suffering from autoinflammatory conditions linked to TBK1 variations.
How similar studies have gone: Previous research has shown success in identifying genetic variations related to immune system disorders, suggesting that this approach may yield valuable insights.
Where this research is happening
-
Columbia University Health Sciences
New York, United States Active
Researchers
- Principal investigator: Akalu, Yemsratch Tadesse — Columbia University Health Sciences
- Study coordinator: Akalu, Yemsratch Tadesse
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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.