Investigating genetic variants in kidney disease
Official title: Variant Validation Core
Funded at Washington University · NIH-10915651 · Data updated 2026-11-12
This study is looking at certain genetic changes in people with kidney disease to find out if they are helpful or harmful, which could lead to better care and health choices for patients and their families.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project start | September 1, 2023 |
| Project end | June 30, 2028 |
| Funding year | 2024 |
| Award (this year) | $273,773 |
| NIH project number | 5U54DK137332-02 |
| Project ID | NIH-10915651 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are patients diagnosed with chronic kidney disease or related kidney developmental disorders who have variants of uncertain significance.
✕Less likely to help
Patients without any genetic variants or those with clearly pathogenic or benign variants may not benefit from this research.
What this research studies
This research focuses on understanding genetic variants that are uncertain in their significance for patients with kidney disease. By using advanced techniques like whole exome sequencing and CRISPR/Cas9 gene editing, the study aims to determine whether these genetic variants are harmful or benign. Patients with chronic kidney disease will benefit from the identification of these variants, which can lead to better clinical care and informed family health decisions. The research will involve laboratory assays to analyze protein function and gene expression related to these variants.
Why it matters
Potential benefit: If successful, this research could lead to clearer genetic diagnoses for patients with kidney disease, improving their treatment options.
How similar studies have gone: Previous research has shown success in using genetic sequencing and CRISPR technology to clarify the pathogenicity of genetic variants in various conditions, indicating a promising approach.
Where this research is happening
-
Washington University
Saint Louis, United States Active
Researchers
- Principal investigator: Miner, Jeffrey H — Washington University
- Study coordinator: Miner, Jeffrey H
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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.