Understanding genetic variants in heart muscle cells
High-throughput functional characterization of MYH7 variants in genome-edited cardiomyocytes
This study is looking at how certain gene changes related to hypertrophic cardiomyopathy (HCM) affect heart cells, with the goal of helping doctors better understand and treat people with this condition.
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 ID | NIH-10928069 on NIH RePORTER |
What this research studies
This research focuses on hypertrophic cardiomyopathy (HCM), a genetic heart condition that can lead to serious complications like sudden cardiac death. It aims to clarify the effects of various genetic variants in the MYH7 gene, which are linked to HCM, using advanced gene-editing techniques on heart muscle cells derived from human stem cells. By creating detailed maps of how these genetic changes affect heart cell function, the research seeks to improve the diagnosis and management of patients with HCM. This approach could help identify individuals at risk and provide more personalized treatment options.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with a family history of hypertrophic cardiomyopathy or those identified with MYH7 variants.
Not a fit: Patients without any genetic predisposition to hypertrophic cardiomyopathy or those not carrying MYH7 variants may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better diagnostic tools for identifying patients at risk of developing hypertrophic cardiomyopathy.
How similar studies have performed: Previous research using similar gene-editing techniques in other conditions has shown promise, indicating potential for success in this novel application.
Where this research is happening
Seattle, United States
- 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
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.