Using large biobanks to find rare genetic 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-11158971 · Data updated 2026-11-12
This project uses genetic and health data from big biobanks to find rare DNA changes that explain who gets hypertrophic cardiomyopathy and when.
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 | 2025 |
| Award (this year) | $685,016 |
| NIH project number | 5R01HL174052-02 |
| Project ID | NIH-11158971 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are people with diagnosed HCM or family members who have had genetic testing — especially those with uncertain genetic results or who come from underrepresented ancestry groups.
✕Less likely to help
Patients seeking immediate treatment changes or those without a detectable genetic contribution (or who are not represented in partner biobanks) may not see direct benefit from this work.
What this research studies
Researchers will combine clinical records, genetic testing, and DNA sequencing from many large biobanks to find rare variants tied to HCM. They will use identity-by-descent methods to connect related individuals and improve detection of rare disease-causing changes. The team will include people from diverse ancestries to reduce bias and better estimate how often variants cause disease. Results will be used to clarify uncertain genetic test results and to search for new HCM genes.
Why it matters
Potential benefit: Could make genetic test results clearer, improve risk predictions, and help identify at-risk relatives earlier.
How similar studies have gone: Large biobank studies have successfully linked rare variants to disease in other conditions, but applying these large-scale and identity-by-descent approaches specifically to HCM and more diverse populations is relatively new.
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.