Using big biobanks to understand rare gene changes in hypertrophic cardiomyopathy
Official title: Leveraging Large-Scale Biobanks to Discover and Define Rare Variant Effects in Hypertrophic Cardiomyopathy
Funded at Vanderbilt University Medical Center · NIH-11411152 · Data updated 2026-11-12
A large study will look at genetic data and health information from many people to better understand how rare gene changes influence hypertrophic cardiomyopathy and its risks.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Vanderbilt University Medical Center NIH-funded |
| Lab location | 1 site (Nashville, United States) |
| Project start | August 1, 2024 |
| Project end | July 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $654,551 |
| NIH project number | 5R01HL174052-03 |
| Project ID | NIH-11411152 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with hypertrophic cardiomyopathy or those undergoing genetic testing for HCM, including diverse ancestral backgrounds.
✕Less likely to help
Some participants may not have actionable findings or may contribute data without direct individual benefits.
What this research studies
This project will connect genetic data with patient health records to identify how rare variants contribute to hypertrophic cardiomyopathy across diverse populations. Researchers will harmonize phenotypes, genotyping, sequencing, and identity-by-descent data to improve our understanding of which variants truly drive the disease and how they affect clinical outcomes. The study aims to expand knowledge beyond the currently studied European populations and to refine gene-specific guidance for diagnosis and management. By building a large, shared research platform, the team hopes to uncover new disease loci and provide clearer interpretations for test results used in patient care.
Why it matters
Potential benefit: If successful, patients with HCM could receive more accurate genetic interpretations and personalized care recommendations.
How similar studies have gone: Previous studies have identified HCM genes, but many variants remain uncertain; this project aims to greatly expand and refine those findings.
Where this research is happening
-
Vanderbilt University Medical Center
Nashville, United States Active
Researchers
- Principal investigator: Wells, Quinn Stanton — Vanderbilt University Medical Center
- Study coordinator: Wells, Quinn Stanton
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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.