Understanding rare genetic variants 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-10999711 · Data updated 2026-11-12
This study is looking at how certain genes might influence hypertrophic cardiomyopathy (HCM), a heart condition, by collecting and analyzing genetic information from different groups of people to better understand what causes the disease and how it affects individuals.
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 | 2024 |
| Award (this year) | $767,579 |
| NIH project number | 1R01HL174052-01A1 |
| Project ID | NIH-10999711 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals diagnosed with hypertrophic cardiomyopathy, particularly those with a family history of the condition or unexplained cardiac symptoms.
✕Less likely to help
Patients with hypertrophic cardiomyopathy who have already identified genetic variants or those with unrelated cardiac conditions may not benefit from this research.
What this research studies
This research investigates the genetic factors contributing to hypertrophic cardiomyopathy (HCM), a condition that can lead to serious heart issues. By analyzing large-scale biobanks, the study aims to identify rare genetic variants that affect the disease's development and severity. The approach includes gathering extensive genetic and phenotypic data from diverse populations to ensure a comprehensive understanding of HCM. This research seeks to fill critical gaps in current knowledge, particularly regarding the genetic underpinnings of HCM in individuals from various ancestries.
Why it matters
Potential benefit: If successful, this research could lead to improved genetic testing and personalized treatment strategies for patients with hypertrophic cardiomyopathy.
How similar studies have gone: Previous research has shown success in using large-scale genetic data to uncover disease mechanisms, making this approach promising for hypertrophic cardiomyopathy.
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.