Understanding kidney diseases linked to Alagille Syndrome in children
Official title: Molecular and cellular basis of the renal diseases associated with Alagille Syndrome
Funded at Sanford Research/usd · NIH-11039960 · Data updated 2026-11-12
This study is looking at how certain genetic changes related to Alagille Syndrome affect kidney health in young children, especially those under 5, to help find better ways to prevent and treat kidney problems they might face.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Sanford Research/usd NIH-funded |
| Lab location | 1 site (Sioux Falls, United States) |
| Project start | May 1, 2021 |
| Project end | February 28, 2026 |
| Funding year | 2025 |
| Award (this year) | $365,200 |
| NIH project number | 5R01DK123180-05 |
| Project ID | NIH-11039960 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children under 5 years old diagnosed with Alagille Syndrome or related kidney abnormalities.
✕Less likely to help
Patients without Alagille Syndrome or those over the age of 11 may not benefit from this research.
What this research studies
This research investigates the molecular and cellular mechanisms behind kidney diseases associated with Alagille Syndrome, particularly in children under 5 years old. It focuses on genetic mutations in the Notch signaling pathway, specifically the JAG1 and NOTCH2 genes, which are believed to play a critical role in kidney development and function. By using mouse models, the research aims to uncover how these mutations lead to varying degrees of kidney disease, including multi-cystic and dysplastic kidneys. The findings could provide insights into the prevention and treatment of kidney issues in affected children.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and management of kidney diseases in children with Alagille Syndrome.
How similar studies have gone: Previous research has shown promising results in understanding genetic contributions to kidney diseases, making this approach both relevant and potentially impactful.
Where this research is happening
-
Sanford Research/usd
Sioux Falls, United States Active
Researchers
- Principal investigator: Surendran, Kameswaran — Sanford Research/usd
- Study coordinator: Surendran, Kameswaran
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.