Understanding how a genetic defect affects inflammation in the gut
Mechanisms of mucosal autoinflammation elucidated by a novel monogenic transcription factor defect
This study is looking at a genetic change that affects a protein involved in gut inflammation, which can lead to issues like inflammatory bowel disease (IBD), and it's for people who want to understand how this mutation impacts their condition and what new treatments might be developed to help manage it.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project ID | NIH-11066556 on NIH RePORTER |
What this research studies
This research investigates a specific genetic defect in the ELF4 transcription factor that leads to abnormal inflammation in the gut, which can cause conditions like inflammatory bowel disease (IBD). By studying patients with this genetic mutation, the researchers aim to uncover the underlying mechanisms of mucosal autoinflammation. They are using advanced mouse models to simulate the condition and explore how this defect disrupts normal immune responses. The goal is to identify potential therapeutic targets that could help manage or treat these inflammatory conditions.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with genetic mutations affecting the ELF4 transcription factor or those diagnosed with autoinflammatory diseases.
Not a fit: Patients without genetic defects related to inflammation or those with unrelated autoimmune conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments for patients suffering from autoinflammatory diseases, particularly those with IBD features.
How similar studies have performed: Other research has shown success in understanding genetic defects related to immune function, suggesting that this approach could yield valuable insights.
Where this research is happening
New Haven, United States
- Yale University — New Haven, United States (Active)
Researchers
- Principal investigator: Lucas, Carrie L. — Yale University
- Study coordinator: Lucas, Carrie L.
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.