Understanding a rare intestinal disease in children caused by a specific gene malfunction
Official title: Investigating a rare pediatric enteropathy caused by ADAM17 loss of function using iPSC-derived human intestinal organoids
Funded at University of Colorado Denver · NIH-10948924 · Data updated 2026-11-12
This study is looking at a rare condition called Neonatal Inflammatory Skin and Bowel Disease 1 (NISBD1) that affects babies and causes gut problems, and it aims to understand how a specific gene, ADAM17, impacts the health of their intestines so that better treatments can be developed.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Colorado Denver NIH-funded |
| Lab location | 1 site (Aurora, UNITED STATES) |
| Project start | September 11, 2023 |
| Project end | September 10, 2026 |
| Funding year | 2024 |
| Award (this year) | $40,633 |
| NIH project number | 5F31DK138753-02 |
| Project ID | NIH-10948924 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children diagnosed with Neonatal Inflammatory Skin and Bowel Disease 1 (NISBD1) or those with related intestinal disorders linked to ADAM17 dysfunction.
✕Less likely to help
Patients with other forms of intestinal diseases not related to ADAM17 or those without a genetic basis for their condition may not benefit from this research.
What this research studies
This research investigates Neonatal Inflammatory Skin and Bowel Disease 1 (NISBD1), a rare pediatric condition linked to the loss of function of the ADAM17 gene, which leads to intestinal inflammation and diarrhea. By using patient-derived intestinal organoids, the study aims to explore how ADAM17 influences the development and function of intestinal stem cells, which are crucial for maintaining a healthy gut lining. The researchers will create genetically matched cell lines to better understand the disease mechanisms and potential therapeutic targets. This approach combines advanced techniques like CRISPR gene editing and organoid culture to model the disease in a laboratory setting.
Why it matters
Potential benefit: If successful, this research could lead to new insights and potential treatments for children suffering from NISBD1 and similar intestinal disorders.
How similar studies have gone: While research on ADAM17 and its role in intestinal health is ongoing, this specific approach using patient-derived organoids and CRISPR technology is relatively novel and has not been extensively tested.
Where this research is happening
-
University of Colorado Denver
Aurora, United States Active
Researchers
- Principal investigator: Williams, Shane — University of Colorado Denver
- Study coordinator: Williams, Shane
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.