Understanding genetic variants in heart disease
Broadly applicable high throughput variant interpretation and validation for MYH7
This study is looking to better understand how certain genetic changes in the MYH7 gene can affect heart health, using advanced technology and patient cells to see how these changes impact heart function, so we can help people with heart diseases feel better.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Baylor College of Medicine NIH-funded |
| Lab location | 1 site (Houston, United States) |
| Project ID | NIH-10997854 on NIH RePORTER |
What this research studies
This research focuses on improving the interpretation of genetic variants associated with heart diseases, particularly those linked to the MYH7 gene. By utilizing advanced sequencing technologies and artificial intelligence, the project aims to develop a high throughput system that can accurately assess the pathogenicity of these variants. Patients' induced pluripotent stem cells will be used to create heart muscle cells, allowing researchers to study how specific genetic changes affect heart function at a cellular level. This innovative approach seeks to provide clearer insights into the genetic causes of cardiomyopathies and other related conditions.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with known or suspected genetic variants in the MYH7 gene or related cardiomyopathies.
Not a fit: Patients without genetic variants linked to heart diseases or those with non-genetic causes of cardiac issues may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and personalized treatment options for patients with genetic heart diseases.
How similar studies have performed: Previous research has shown promise in using artificial intelligence and advanced sequencing techniques for variant interpretation, indicating a potential for success in this innovative approach.
Where this research is happening
Houston, United States
- Baylor College of Medicine — Houston, United States (Active)
Researchers
- Principal investigator: Zhang, Lilei — Baylor College of Medicine
- Study coordinator: Zhang, Lilei
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.