Understanding how specific mutations in a heart protein cause genetic heart disease
Official title: Dissecting the mechanisms of how MYH7 S2 mutations lead to genetic hypertrophic cardiomyopathy
Funded at University of Washington · NIH-10885119 · Data updated 2026-11-12
This study is looking at how changes in a gene important for heart muscle work can cause familial hypertrophic cardiomyopathy (HCM), and it aims to understand these changes better to help find new treatments for people with this condition.
Quick facts
| Grant type | Fellowship grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Washington NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project start | July 1, 2022 |
| Project end | June 30, 2025 |
| Funding year | 2024 |
| Award (this year) | $76,756 |
| NIH project number | 5F32HL164108-03 |
| Project ID | NIH-10885119 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 specific MYH7 mutations.
✕Less likely to help
Patients without MYH7 mutations or those with other forms of cardiomyopathy may not benefit from this research.
What this research studies
This research investigates how mutations in the MYH7 gene, which is crucial for heart muscle function, lead to familial hypertrophic cardiomyopathy (HCM). By using advanced techniques like CRISPR to create specific mutations, the researchers aim to understand how these changes affect heart muscle contraction. They will study heart cells derived from patients to see how these mutations disrupt normal protein interactions and lead to heart dysfunction. The ultimate goal is to find ways to restore normal function and potentially develop new treatments for HCM.
Why it matters
Potential benefit: If successful, this research could lead to new therapies that improve heart function in patients with genetic hypertrophic cardiomyopathy.
How similar studies have gone: Previous research has shown promise in using CRISPR technology to investigate genetic heart diseases, indicating that this approach could yield valuable insights.
Where this research is happening
-
University of Washington
Seattle, United States Active
Researchers
- Principal investigator: Loiben, Alexander — University of Washington
- Study coordinator: Loiben, Alexander
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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.