Understanding how genetic changes in heart proteins lead to serious heart issues.
Targeting the genotype to phenotype link in HCM as a therapeutic strategy
This study is looking at how certain genetic changes in heart proteins might affect people with hypertrophic cardiomyopathy (HCM) and their risk of serious heart problems, with the hope of finding new treatments to help prevent sudden cardiac issues for those at risk.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Stanford University NIH-funded |
| Lab location | 1 site (Stanford, United States) |
| Project ID | NIH-10791891 on NIH RePORTER |
What this research studies
This research investigates the link between genetic mutations in heart proteins and the risk of life-threatening heart conditions, particularly in patients with hypertrophic cardiomyopathy (HCM). By using advanced techniques like induced pluripotent stem cells (iPSCs) and mouse models, the team aims to identify how these genetic changes contribute to dangerous heart rhythms. The goal is to develop targeted therapies that can prevent sudden cardiac death in at-risk individuals. Patients with specific genetic variants will be studied to better understand their unique disease mechanisms.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with hypertrophic cardiomyopathy, particularly those with known genetic mutations in sarcomeric protein genes.
Not a fit: Patients without hypertrophic cardiomyopathy or those whose condition is not linked to genetic mutations in sarcomeric proteins may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapies that significantly reduce the risk of sudden cardiac death in patients with hypertrophic cardiomyopathy.
How similar studies have performed: Previous research has shown promise in using genetic and cellular models to understand heart disease mechanisms, indicating that this approach could yield valuable insights.
Where this research is happening
Stanford, United States
- Stanford University — Stanford, United States (Active)
Researchers
- Principal investigator: Mercola, Mark — Stanford University
- Study coordinator: Mercola, Mark
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.