Biological Basis of cMyBP-C Cardiomyopathies and How Variants Cause Disease
Official title: Biological Basis of Genetic cMyBP-C Cardiomyopathies
Funded at Case Western Reserve University · NIH-11345931 · Data updated 2026-11-12
This grant studies how genetic changes in a heart protein called cMyBP-C lead to cardiomyopathy, aiming to connect a person’s specific variant to their risk and potential therapies.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Case Western Reserve University NIH-funded |
| Lab location | 1 site (Cleveland, United States) |
| Project start | August 1, 2024 |
| Project end | April 30, 2028 |
| Funding year | 2026 |
| Award (this year) | $640,728 |
| NIH project number | 5R01HL173989-03 |
| Project ID | NIH-11345931 on NIH RePORTER |
Who could benefit from this research
✓Could help
Individuals with or at risk for hypertrophic cardiomyopathy linked to cMyBP-C gene variants may benefit from advancements arising from this research.
✕Less likely to help
People without cMyBP-C related cardiomyopathy or their genetic variants are unlikely to gain direct benefit.
What this research studies
Researchers will combine basic molecular biology, cell biophysics, animal physiology, and computer modeling to understand how inherited cMyBP-C mutations cause disease. They will explore why some missense variants result in harmful heart function while others do not, and why many variants are still labeled as unknown significance. The work includes studying how different parts of the cMyBP-C molecule interact with myosin and actin to affect heart contraction, using cellular assays and animal models to reflect human disease. Insights from this project could help translate genetic findings into better risk prediction and treatment strategies for patients with hypertrophic cardiomyopathy related to cMyBP-C mutations.
Why it matters
Potential benefit: Patients with inherited cMyBP-C mutations could receive clearer guidance on disease risk and more targeted therapies in the future.
How similar studies have gone: Previous work shows that integrating molecular, cellular, and animal data with modeling can illuminate how specific variants alter heart function, though this project addresses more diverse variants and mechanisms.
Where this research is happening
-
Case Western Reserve University
Cleveland, United States Active
Researchers
- Principal investigator: Stelzer, Julian — Case Western Reserve University
- Study coordinator: Stelzer, Julian
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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.