Understanding genetic variants in heart disease
Official title: Broadly applicable high throughput variant interpretation and validation for MYH7
Funded at Baylor College of Medicine · NIH-10997854 · Data updated 2026-11-12
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 start | July 1, 2024 |
| Project end | June 30, 2028 |
| Funding year | 2024 |
| Award (this year) | $719,462 |
| NIH project number | 1R01HL175964-01 |
| Project ID | NIH-10997854 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with known or suspected genetic variants in the MYH7 gene or related cardiomyopathies.
✕Less likely to help
Patients without genetic variants linked to heart diseases or those with non-genetic causes of cardiac issues may not benefit from this research.
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.
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 gone: 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
-
Baylor College of Medicine
Houston, United States Active
Researchers
- Principal investigator: Zhang, Lilei — Baylor College of Medicine
- Study coordinator: Zhang, Lilei
Related research
Other NIH-funded projects on the same topics.
-
Multimodal AI to improve genetic diagnosis of congenital heart disease
A new AI tool uses multiple types of patient data to help doctors find genetic causes of congenital heart disease more accurately.
-
Surveillance of Vaccine-Preventable Diseases in Children
This project watches how often common vaccines prevent illnesses in kids who are in the hospital or at the emergency department, and compares them with healthy children getting well-child care.
-
Triple gene therapy approach to heal the heart after a heart attack
A new therapy combines three genetic approaches delivered by a virus to help the heart heal after a heart attack.
-
Thalamic sleep circuit changes in Alzheimer's disease
Aims to understand how sleep-related brain activity in a key sleep regulator called the TRN affects Alzheimer’s progression and whether boosting TRN function could slow symptoms.
-
Cardiomyocyte-fibroblast signaling in atrial fibrillation
A researcher at Baylor College of Medicine is studying how signals between heart muscle cells and supportive heart cells influence atrial fibrillation, with the goal of finding new ways to prevent or treat this common heart rhythm problem.
-
UMPIRE: Keeping Kidneys Healthy for Babies with Spina Bifida
A care protocol for newborns with spina bifida aims to protect kidney function by thoughtful bladder management and monitoring from birth.
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.