Understanding how TTC7A mutations affect gut cell function and disease.
Official title: The role of TTC7A in apical lumen formation and polarized trafficking in the intestinal epithelium
Funded at Boston Children's Hospital · NIH-10978195 · Data updated 2026-11-12
This study is looking at how changes in the TTC7A gene affect the way intestinal cells work, which is really important for babies with severe gut problems, to help understand the disease better and find new ways to treat it.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | December 1, 2022 |
| Project end | November 30, 2025 |
| Funding year | 2025 |
| Award (this year) | $88,444 |
| NIH project number | 5F32DK130267-03 |
| Project ID | NIH-10978195 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are infants diagnosed with gastrointestinal diseases associated with TTC7A mutations.
✕Less likely to help
Patients without TTC7A mutations or those with unrelated gastrointestinal conditions may not benefit from this research.
What this research studies
This research investigates the impact of mutations in the TTC7A gene on the formation of the apical membrane in intestinal cells, which is crucial for proper gut function. The study aims to uncover how these mutations lead to severe gastrointestinal diseases in infants by disrupting the normal polarity and trafficking of cellular components. By examining the role of TTC7A as a chaperone for specific proteins involved in membrane formation, the research seeks to clarify the underlying mechanisms of disease and identify potential therapeutic targets.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment options for infants suffering from severe gastrointestinal diseases linked to TTC7A mutations.
How similar studies have gone: Previous studies have shown promising results in understanding the role of membrane proteins in gastrointestinal diseases, suggesting that this research could build on established findings.
Where this research is happening
-
Boston Children's Hospital
Boston, United States Active
Researchers
- Principal investigator: Bugda Gwilt, Katlynn — Boston Children's Hospital
- Study coordinator: Bugda Gwilt, Katlynn
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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.