Understanding the effects of genetic changes in heart muscle proteins
Official title: Pathogenicity and pathophysiology assessments of sarcomere gene variants identified in the clinic
Funded at University of Connecticut Sch of Med/dnt · NIH-11040580 · Data updated 2026-11-12
This study is looking at certain changes in a gene called TNNT2 that can affect how well your heart works, especially for people who might be at risk for heart conditions like hypertrophic cardiomyopathy or dilated cardiomyopathy, to help understand how these changes could impact heart health.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Connecticut Sch of Med/dnt NIH-funded |
| Lab location | 1 site (Farmington, United States) |
| Project start | December 15, 2024 |
| Project end | November 30, 2028 |
| Funding year | 2025 |
| Award (this year) | $615,006 |
| NIH project number | 1R01HL177653-01 |
| Project ID | NIH-11040580 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates include individuals with identified variants in the TNNT2 gene, particularly those classified as variants of unknown significance.
✕Less likely to help
Patients without any TNNT2 gene variants or those with known pathogenic variants may not benefit from this research.
What this research studies
This research investigates genetic variants in the TNNT2 gene, which are linked to heart muscle function and can lead to different types of heart failure. By analyzing these variants, the study aims to determine their pathogenicity and how they affect heart health. Patients with variants of unknown significance (VUS) will be assessed to better understand their risk for conditions like hypertrophic cardiomyopathy and dilated cardiomyopathy. The approach includes biomechanical analyses and assessments of how these genetic changes impact heart muscle contraction and relaxation.
Why it matters
Potential benefit: If successful, this research could lead to more accurate risk assessments and tailored treatments for patients with heart failure linked to TNNT2 gene variants.
How similar studies have gone: Previous studies have shown promise in understanding the implications of TNNT2 variants, indicating that this research builds on established findings in the field.
Where this research is happening
-
University of Connecticut Sch of Med/dnt
Farmington, United States Active
Researchers
- Principal investigator: Hinson, John Travis — University of Connecticut Sch of Med/dnt
- Study coordinator: Hinson, John Travis
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.