Understanding genetic variants in heart disease
Deep mutational scanning of MYH7 in genome-edited cardiomyocytes
This study is looking at a gene called MYH7 that’s connected to hypertrophic cardiomyopathy (HCM), a heart condition that can be serious, to better understand how different genetic changes affect heart health, which could help doctors provide better care for patients with this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Washington NIH-funded |
| Lab location | 1 site (Seattle, United States) |
| Project ID | NIH-11161419 on NIH RePORTER |
What this research studies
This research investigates hypertrophic cardiomyopathy (HCM), a genetic heart condition that can lead to serious complications like sudden cardiac death. It focuses on the MYH7 gene, which is linked to many familial cases of HCM, and aims to clarify the significance of numerous genetic variants that are currently classified as variants of unknown significance (VUS). By using deep mutational scanning, the study will assess the functional impact of these variants in heart muscle cells derived from human stem cells, providing insights that could improve genetic testing and patient management. The goal is to create a comprehensive map of how different genetic changes affect heart function, which can help doctors make better decisions for their patients.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with a family history of hypertrophic cardiomyopathy or those who have been identified with MYH7 variants.
Not a fit: Patients without any genetic predisposition to hypertrophic cardiomyopathy or those with unrelated cardiac conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate genetic testing for patients at risk of hypertrophic cardiomyopathy, improving diagnosis and management.
How similar studies have performed: Previous research using deep mutational scanning in other contexts has shown promise, but this approach in cardiomyocytes is relatively novel.
Where this research is happening
Seattle, United States
- University of Washington — Seattle, United States (Active)
Researchers
- Principal investigator: Yang, Kai-Chun Daniel — University of Washington
- 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.