Understanding ADPKD and its Genetic Links
ADPKD: Disease Spectrum & Genotype-Phenotype Correlations
This research helps us better understand how different genetic changes cause Autosomal Dominant Polycystic Kidney Disease (ADPKD) and how severe it can be for patients.
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-11094737 on NIH RePORTER |
What this research studies
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is an inherited condition that can lead to kidney failure. This project uses information from many patients, including genetic data, to learn more about how different genes and their variations affect the disease. We want to find out how much these genetic differences influence the specific symptoms and severity of ADPKD. We also use lab tests and animal models to understand how certain gene changes cause the disease. This work aims to improve how ADPKD is diagnosed and to create better ways to study the disease.
Who could benefit from this research
Good fit: Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD) or those with a family history of the condition are the focus of this research.
Not a fit: Patients without ADPKD or a family history of the condition would not directly benefit from this specific genetic and disease mechanism research.
Why it matters
Potential benefit: If successful, this work could lead to more accurate genetic diagnoses for ADPKD and a clearer understanding of how the disease progresses, potentially guiding future treatment strategies.
How similar studies have performed: Previous research has successfully identified several genes linked to ADPKD, and this project builds upon those findings by exploring the disease spectrum and genetic variations in more detail.
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.