Finding genes that affect kidney disease severity in Alport syndrome
Identification of Kidney Disease Modifier Genes in Mouse and Human Alport Syndrome
This study is looking at how genes affect how severe Alport syndrome is and when it starts, so we can better understand why some people have worse symptoms than others, and it could help find new ways to treat the disease.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Jackson Laboratory NIH-funded |
| Lab location | 1 site (Bar Harbor, United States) |
| Project ID | NIH-11015858 on NIH RePORTER |
What this research studies
This research investigates the genetic factors that influence the severity and age of onset of Alport syndrome, a hereditary kidney disease. By studying both mice and humans, the researchers aim to identify modifier genes that could explain why some patients experience more severe symptoms than others, even with similar genetic mutations. The approach involves high-resolution genetic mapping in a diverse group of mice with Alport syndrome, followed by validation of these findings in human patients. This could lead to new therapeutic targets for managing the disease.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with Alport syndrome or those with a family history of the disease.
Not a fit: Patients with kidney diseases unrelated to Alport syndrome may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to personalized treatment strategies that improve outcomes for patients with Alport syndrome.
How similar studies have performed: Previous studies have shown promise in identifying genetic modifiers in other kidney diseases, suggesting potential success for this approach.
Where this research is happening
Bar Harbor, United States
- Jackson Laboratory — Bar Harbor, United States (Active)
Researchers
- Principal investigator: Korstanje, Ronny — Jackson Laboratory
- Study coordinator: Korstanje, Ronny
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.