Understanding heart failure risk in individuals with specific genetic mutations
Elucidating hereditary transthyretin-mediated heart failure risk using machine learning, polygenic risk and recall by genotype approaches in African ancestry individuals
This study is looking at how changes in a specific gene can cause heart problems, especially in people of African descent, and it aims to find out who might be at risk for this condition before they show any symptoms, while also testing new treatments to help those affected.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Icahn School of Medicine at Mount Sinai NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project ID | NIH-10781986 on NIH RePORTER |
What this research studies
This research investigates how mutations in the Transthyretin (TTR) gene can lead to heart failure, particularly in individuals of African ancestry. By utilizing machine learning and polygenic risk scores, the study aims to identify those at risk for hereditary transthyretin amyloid cardiomyopathy (hATTR-CM) before symptoms appear. The researchers will also explore the effectiveness of targeted therapies that have been developed to improve outcomes for patients with this condition. This approach seeks to enhance early diagnosis and treatment options for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals of African ancestry who carry the TTR V122I mutation or have a family history of hereditary transthyretin amyloid cardiomyopathy.
Not a fit: Patients without the TTR V122I mutation or those not of African ancestry may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to earlier diagnosis and more effective treatments for heart failure in individuals with specific genetic mutations.
How similar studies have performed: Previous studies have shown promising results in identifying genetic risks for heart conditions, suggesting that this approach could be effective.
Where this research is happening
New York, United States
- Icahn School of Medicine at Mount Sinai — New York, United States (Active)
Researchers
- Principal investigator: Do, Ron — Icahn School of Medicine at Mount Sinai
- Study coordinator: Do, Ron
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.