High-throughput functional testing of MYH7 variants in heart cells
Official title: High-throughput functional characterization of MYH7 variants in genome-edited cardiomyocytes
Funded at VA Puget Sound Healthcare System · NIH-11319722 · Data updated 2026-11-12
Researchers are testing thousands of MYH7 gene variants in heart cells to better understand which changes cause disease, with the goal of helping people with hypertrophic cardiomyopathy and their families.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | VA Puget Sound Healthcare System NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project start | April 1, 2025 |
| Project end | March 31, 2029 |
| Funding year | 2026 |
| NIH project number | 5I01BX006428-02 |
| Project ID | NIH-11319722 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are individuals with hypertrophic cardiomyopathy or a family history of HCM who carry or may carry MYH7 variants.
✕Less likely to help
Patients without MYH7-related HCM or variants may not directly benefit from this laboratory study.
What this research studies
This project uses genome-edited heart muscle cells derived from patient-like sources to rapidly test how different MYH7 variants affect function. By creating variant effect maps, clinicians could interpret genetic test results more clearly for individuals with suspected hypertrophic cardiomyopathy. The approach combines high-throughput screening with editing techniques to study many variants at once, aiming to translate findings into better risk assessment and management. The study is conducted in a laboratory setting with human-derived cells, focusing on understanding disease-causing changes rather than treating patients directly. Results could inform future therapies and diagnostic guidelines for HCM linked to MYH7 variants.
Why it matters
Potential benefit: If successful, this work could improve genetic interpretation for HCM, helping patients and families make informed medical decisions.
How similar studies have gone: Previous deep mutational scanning has shown promise in other genes, but applying it to MYH7 in cardiomyocytes is a novel step with potential high impact.
Where this research is happening
-
VA Puget Sound Healthcare System
Seattle, United States Active
Researchers
- Principal investigator: Yang, Kai-Chun Daniel — VA Puget Sound Healthcare System
- Study coordinator: Yang, Kai-Chun Daniel
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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.