Investigating genetic factors in heart disease caused by MYH7 variants
High-Throughput Studies of MYH7 Variant Cardiomyocytes to Identify Pathogenic Variants and Factors Governing Variable Expressivity of Hypertrophic Cardiomyopathy
This study is looking at how certain changes in a gene called MYH7 can affect people with hypertrophic cardiomyopathy (HCM), helping to explain why some patients have different symptoms and providing useful information for them and their doctors.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Washington NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project ID | NIH-11032231 on NIH RePORTER |
What this research studies
This research focuses on hypertrophic cardiomyopathy (HCM), a heart condition that can lead to serious complications like heart failure. It aims to identify genetic variants in the MYH7 gene that contribute to HCM and understand why symptoms vary among patients. By using advanced cell models derived from human stem cells, the researchers will explore how these genetic variants affect heart cell function and survival. The goal is to provide clearer information for patients and their doctors about the risks associated with specific genetic changes.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals diagnosed with hypertrophic cardiomyopathy, particularly those with identified MYH7 gene variants.
Not a fit: Patients without a diagnosis of hypertrophic cardiomyopathy or those without MYH7 gene variants may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better risk assessment and personalized treatment options for patients with MYH7-related hypertrophic cardiomyopathy.
How similar studies have performed: Previous research has shown promise in using stem cell models to study genetic heart conditions, indicating that this approach could yield valuable insights.
Where this research is happening
Seattle, United States
- University of Washington — Seattle, United States (Active)
Researchers
- Principal investigator: Friedman, Clayton E — University of Washington
- Study coordinator: Friedman, Clayton E
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 below.