Understanding genetic changes in a heart protein linked to hypertrophic cardiomyopathy
Official title: Missense Variants in Myosin Binding Protein C that Cause Hypertrophic Cardiomyopathy
Funded at University of Pennsylvania · NIH-10913579 · Data updated 2026-11-12
This study is looking at how certain changes in a gene related to heart muscle can affect people with hypertrophic cardiomyopathy (HCM), which can cause serious heart issues, to help find better ways to understand and treat the condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project start | September 1, 2023 |
| Project end | August 31, 2027 |
| Funding year | 2024 |
| Award (this year) | $680,567 |
| NIH project number | 5R01HL167524-02 |
| Project ID | NIH-10913579 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with familial hypertrophic cardiomyopathy, particularly those with identified missense variants in the MYBPC3 gene.
✕Less likely to help
Patients without a diagnosis of hypertrophic cardiomyopathy or those with different underlying causes of heart disease may not benefit from this research.
What this research studies
This research investigates how specific genetic changes in the myosin-binding protein C (MYBPC3) contribute to hypertrophic cardiomyopathy (HCM), a condition that can lead to heart failure and dangerous heart rhythms. By using advanced techniques to analyze the interactions of this protein with others in the heart muscle, the researchers aim to uncover the mechanisms behind these genetic variants. This could lead to improved understanding and potentially more effective treatments for patients suffering from HCM.
Why it matters
Potential benefit: If successful, this research could lead to better-targeted therapies for patients with hypertrophic cardiomyopathy, improving their quality of life and reducing the risk of severe heart complications.
How similar studies have gone: Previous research has shown promise in understanding the genetic basis of hypertrophic cardiomyopathy, suggesting that this approach could yield valuable insights.
Where this research is happening
-
University of Pennsylvania
Philadelphia, United States Active
Researchers
- Principal investigator: Day, Sharlene M — University of Pennsylvania
- Study coordinator: Day, Sharlene M
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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.