Understanding how genetic mutations in a heart protein cause cardiomyopathies
Official title: Biological Basis of Genetic cMyBP-C Cardiomyopathies
Funded at Case Western Reserve University · NIH-11145240 · Data updated 2026-11-12
This study is looking at how certain inherited changes in a heart protein can cause heart problems, especially a condition called hypertrophic cardiomyopathy, to help find better treatments for people with this condition.
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 | 2025 |
| Award (this year) | $658,863 |
| NIH project number | 5R01HL173989-02 |
| Project ID | NIH-11145240 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with known mutations in the cMyBP-C gene, particularly those at risk for hypertrophic cardiomyopathy.
✕Less likely to help
Patients without genetic mutations in the cMyBP-C gene or those with unrelated cardiac conditions may not benefit from this research.
What this research studies
This research investigates the molecular mechanisms by which inherited mutations in the cardiac myosin binding protein C (cMyBP-C) lead to heart diseases, particularly hypertrophic cardiomyopathy. By combining molecular biology, biophysics, animal physiology, and computer modeling, the project aims to link specific genetic mutations to their effects on heart function. The goal is to clarify how different mutations affect the protein's behavior and ultimately contribute to disease severity, which could help in determining appropriate treatments for affected individuals.
Why it matters
Potential benefit: If successful, this research could lead to better understanding and management of cardiomyopathies caused by genetic mutations, improving patient outcomes.
How similar studies have gone: While the specific approach of linking genotype to phenotype in cMyBP-C mutations is novel, similar research in other genetic cardiomyopathies has shown promising results.
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
Related research
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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.