NPHP2's role in kidney scarring and cysts
NPHP2 in ciliary function, renal fibrosis and cyst formation
Researchers are checking whether problems with the NPHP2 gene in kidney cells cause cilia-related scarring and cysts in people with nephronophthisis.
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-11323964 on NIH RePORTER |
What this research studies
This project studies how changes in the NPHP2 gene lead to kidney scarring (fibrosis) and cyst formation by creating mice that lack Nphp2 in specific kidney cell types. The team examines whether damaged epithelial cells trigger nearby stromal cells and early activation of myofibroblasts that drive fibrosis. They also test whether disrupting cilia-related signals can reduce the disease features, pointing to a cilia-dependent profibrotic pathway. The work uses genetic mouse models and related laboratory tools to trace which cells and molecular signals cause disease progression.
Who could benefit from this research
Good fit: People with nephronophthisis or known pathogenic NPHP2 mutations, especially children and young adults with early-onset cystic kidney disease, would be the most relevant group.
Not a fit: Patients whose kidney disease is caused by unrelated genes or who already have late-stage, irreversible kidney failure are unlikely to benefit directly from this basic science work.
Why it matters
Potential benefit: If successful, this research could identify molecular targets to slow or prevent kidney scarring and cysts in people with nephronophthisis, paving the way for targeted therapies.
How similar studies have performed: Prior animal models show that loss of Nphp2 leads to fibrosis and cysts, but turning those findings into effective human treatments remains novel and unproven.
Where this research is happening
New Haven, United States
- Yale University — New Haven, United States (Active)
Researchers
- Principal investigator: Sun, Zhaoxia — Yale University
- Study coordinator: Sun, Zhaoxia
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.