Titin Gene Variants and Heart Disease: Understanding Who Might Be Affected
Official title: Titin, Genome-First: Disease Spectrum and Modifiers of Heritable Cardiomyopathy
Funded at Geisinger Clinic · NIH-11446134 · Data updated 2026-11-12
Researchers will study how TTN truncating variants affect heart health in people, with the goal of guiding future care for those with these genetic findings.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Geisinger Clinic NIH-funded |
| Lab location | 1 site (Danville, United States) |
| Project start | August 17, 2026 |
| Project end | May 31, 2031 |
| Funding year | 2026 |
| Award (this year) | $823,655 |
| NIH project number | 1R01HL183397-01A1 |
| Project ID | NIH-11446134 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals who have or are suspected to have TTN truncating variants identified through genomic screening or familial testing.
✕Less likely to help
General population individuals without TTN truncating variants are unlikely to receive direct benefit.
What this research studies
This project uses large biobanks to connect genetic TTN truncating variants with heart disease outcomes and variability in clinical presentation. By harmonizing genomic and health data from nearly a million people, the study aims to identify factors that modify risk, including gene-specific effects and external influences. The findings could help doctors tailor monitoring and treatment for patients who learn they carry TTN truncating variants through genetic screening.
Why it matters
Potential benefit: If successful, the work could lead to better risk stratification and personalized management for individuals with TTN truncating variants.
How similar studies have gone: Previous studies have linked TTN truncating variants to cardiomyopathy, but this project seeks to clarify risk modifiers in large, real-world datasets.
Where this research is happening
-
Geisinger Clinic
Danville, United States Active
Researchers
- Principal investigator: Carruth, Eric David — Geisinger Clinic
- Study coordinator: Carruth, Eric David
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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.