Improving gene expression for Alagille Syndrome treatment
Official title: Mapping, programming, and correcting gene regulatory sequences for Alagille Syndrome
Funded at Stanford University · NIH-10995336 · Data updated 2026-11-12
This study is exploring new ways to boost the activity of a gene called JAG1, which is important for people with Alagille Syndrome, to help improve their health and reduce serious issues like liver and heart problems.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Stanford University NIH-funded |
| Lab location | 1 site (Stanford, United States) |
| Project start | December 15, 2023 |
| Project end | November 30, 2027 |
| Funding year | 2025 |
| Award (this year) | $685,703 |
| NIH project number | 5R01HL171609-02 |
| Project ID | NIH-10995336 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Alagille Syndrome or related genetic conditions that involve haploinsufficiency of the JAG1 gene.
✕Less likely to help
Patients with Alagille Syndrome who do not have a haploinsufficiency of the JAG1 gene or those with unrelated genetic disorders may not benefit from this research.
What this research studies
This research focuses on understanding and engineering regulatory DNA elements that control gene expression, specifically targeting Alagille Syndrome, a genetic disorder caused by insufficient levels of the JAG1 gene. By developing innovative tools to identify and edit transcription factor binding sites, the research aims to enhance the expression of the unaffected allele of the JAG1 gene. This could potentially restore normal gene function and alleviate the severe complications associated with the syndrome, such as biliary atresia and congenital heart defects. The approach involves high-throughput screening to evaluate the effectiveness of these genetic modifications.
Why it matters
Potential benefit: If successful, this research could lead to new gene therapies that significantly improve health outcomes for patients with Alagille Syndrome.
How similar studies have gone: Previous research has shown promise in using gene editing techniques to address genetic disorders, indicating that this approach could be a viable and innovative solution for Alagille Syndrome.
Where this research is happening
-
Stanford University
Stanford, United States Active
Researchers
- Principal investigator: Engreitz, Jesse M — Stanford University
- Study coordinator: Engreitz, Jesse M
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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.