Understanding how certain genetic changes in a heart protein cause hypertrophic cardiomyopathy
Official title: Pathogenic mechanisms of myosin binding protein C missense variants within hypertrophic cardiomyopathy
Funded at University of Michigan at Ann Arbor · NIH-10896913 · Data updated 2026-11-12
This study is looking into how certain genetic changes in a heart protein might cause hypertrophic cardiomyopathy (HCM) and whether new treatments can help fix these issues, so it's especially for people with HCM who want to understand more about their condition.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project start | July 1, 2022 |
| Project end | June 30, 2027 |
| Funding year | 2024 |
| Award (this year) | $167,400 |
| NIH project number | 5K08HL163328-03 |
| Project ID | NIH-10896913 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with hypertrophic cardiomyopathy, particularly those with specific MYBPC3 genetic variants.
✕Less likely to help
Patients without hypertrophic cardiomyopathy or those with different underlying genetic causes may not benefit from this research.
What this research studies
This research investigates the genetic causes of hypertrophic cardiomyopathy (HCM), a heart condition that can lead to serious complications like heart failure and arrhythmias. The focus is on specific genetic variants in the myosin binding protein C3 (MYBPC3) that may disrupt normal heart function. By using advanced techniques like affinity mass spectrometry and creating cellular and animal models, the research aims to determine how these genetic changes affect protein interactions and whether they can be reversed with targeted therapies.
Why it matters
Potential benefit: If successful, this research could lead to better genetic screening and targeted treatments for patients with hypertrophic cardiomyopathy.
How similar studies have gone: Previous research has shown promise in understanding genetic variants in heart diseases, suggesting that this approach could yield valuable insights.
Where this research is happening
-
University of Michigan at Ann Arbor
Ann Arbor, United States Active
Researchers
- Principal investigator: Thompson, Andrea Dooley — University of Michigan at Ann Arbor
- Study coordinator: Thompson, Andrea Dooley
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Myosin binding protein C variants and heart disease
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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.