Improving the classification of genetic variants linked to heart disease
Official title: A high-throughput, multimodal strategy to improve variant classification
Funded at Vanderbilt University Medical Center · NIH-11033512 · Data updated 2026-11-12
This study is working to improve how doctors understand genetic tests for heart-related diseases by figuring out if certain genetic changes are harmful or not, so that patients can get better and more accurate care.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Vanderbilt University Medical Center NIH-funded |
| Lab location | 1 site (Nashville, United States) |
| Project start | January 3, 2025 |
| Project end | December 31, 2029 |
| Funding year | 2025 |
| Award (this year) | $172,584 |
| NIH project number | 1K08HG014001-01 |
| Project ID | NIH-11033512 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with known genetic variants related to cardiovascular conditions who are currently classified as having variants of uncertain significance.
✕Less likely to help
Patients with genetic variants that are already classified as either pathogenic or benign may not benefit from this research.
What this research studies
This research focuses on enhancing the accuracy of genetic diagnoses for Mendelian diseases, particularly those related to cardiovascular conditions. It aims to address the challenge of variants of uncertain significance (VUS) by using a combination of large biobanks and advanced laboratory assays to determine whether these genetic variants are harmful or benign. By leveraging extensive genetic data and functional testing, the project seeks to provide clearer classifications that can guide clinical decisions and improve patient outcomes. The ultimate goal is to facilitate the broader implementation of genomic medicine in treating cardiovascular diseases.
Why it matters
Potential benefit: If successful, this research could lead to more accurate genetic diagnoses, enabling timely and effective interventions for patients with cardiovascular diseases.
How similar studies have gone: Previous research has shown promise in using biobanks and functional assays to improve variant classification, indicating that this approach has potential for success.
Where this research is happening
-
Vanderbilt University Medical Center
Nashville, United States Active
Researchers
- Principal investigator: Lancaster, Megan — Vanderbilt University Medical Center
- Study coordinator: Lancaster, Megan
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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.