Variations in the TBK1 gene can cause autoinflammation.
Human Heterozygous TBK1 Variations Lead to Autoinflammation
['FUNDING_FELLOWSHIP'] · COLUMBIA UNIVERSITY HEALTH SCIENCES · NIH-11065928
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
| Phase | ['FUNDING_FELLOWSHIP'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | COLUMBIA UNIVERSITY HEALTH SCIENCES (nih funded) |
| Locations | 1 site (NEW YORK, UNITED STATES) |
| Trial ID | NIH-11065928 on ClinicalTrials.gov |
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.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals, both children and adults, who have been diagnosed with autoinflammatory syndromes or have unexplained inflammatory symptoms.
Not a fit: Patients with autoinflammatory conditions not related to TBK1 variations may not benefit from this research.
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 performed: 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
NEW YORK, UNITED STATES
- COLUMBIA UNIVERSITY HEALTH SCIENCES — NEW YORK, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: AKALU, YEMSRATCH TADESSE — COLUMBIA UNIVERSITY HEALTH SCIENCES
- Study coordinator: AKALU, YEMSRATCH TADESSE
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.