What causes cysts in different kinds of polycystic kidney disease
Investigation of common disease mechanisms in nonsyndromic and syndromic PKD
Looking at how genetic changes cause kidney cysts in people with ADPKD, ARPKD, and related syndromic conditions.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Mayo Clinic Rochester NIH-funded |
| Lab location | 1 site (Rochester, United States) |
| Project ID | NIH-11247513 on NIH RePORTER |
What this research studies
From a patient perspective, researchers are comparing genes that cause the common (kidney-and-liver) forms of PKD and the syndromic forms that also affect the brain, skeleton, and senses. They will examine how loss or partial loss of specific genes (for example PKHD1 and IFT140) changes cilia function and leads to cysts, using genetic data, family information, lab models, and tissue or sample analysis. The team will also look at people who carry a single copy of a recessive gene to see if they have mild cystic changes. Results aim to link specific gene changes to the range of symptoms people experience across different PKD types.
Who could benefit from this research
Good fit: People with a diagnosis of ADPKD or ARPKD, relatives who may carry PKD-related gene variants, and patients with syndromic features linked to PKD genes are the most relevant candidates.
Not a fit: People with kidney disease not caused by PKD genes or whose kidneys are already irreversibly damaged are unlikely to benefit directly from this work.
Why it matters
Potential benefit: Could improve genetic diagnosis, help predict who may develop cysts, and point to targets for therapies that slow or prevent cyst growth.
How similar studies have performed: Prior genetic and laboratory studies have revealed related gene effects such as PKHD1 and IFT140 heterozygous phenotypes, but bringing nonsyndromic and syndromic mechanisms together is a newer approach.
Where this research is happening
Rochester, United States
- Mayo Clinic Rochester — Rochester, United States (Active)
Researchers
- Principal investigator: Harris, Peter C. — Mayo Clinic Rochester
- Study coordinator: Harris, Peter C.
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.