AI-guided genetic testing to find inherited heart conditions
Machine Learning Guided Precision Genetic Testing for Identification of Monogenic Cardiovascular Disorders
This project uses artificial intelligence plus targeted genetic testing to help people with heart problems or abnormal heart images find inherited conditions like hypertrophic cardiomyopathy and transthyretin amyloidosis.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Duke University NIH-funded |
| Lab location | 1 site (Durham, United States) |
| Project ID | NIH-11124260 on NIH RePORTER |
What this research studies
You may have your medical records, heart images, and genetic information analyzed by machine-learning tools to flag signs of inherited heart disease. People flagged by the algorithms could be offered precision genetic testing to confirm whether they have monogenic cardiovascular conditions. The team will refine and validate deep-learning image analysis and combine it with EHR and genetic data to improve detection. The goal is to catch cases that current approaches miss so patients and families get earlier diagnosis and care.
Who could benefit from this research
Good fit: Ideal candidates are people with unexplained heart disease, abnormal cardiac imaging, a family history of cardiomyopathy, or clinical concern for HCM or ATTR-CM.
Not a fit: People without heart disease, without relevant imaging or medical records, or whose condition is not caused by a single-gene (monogenic) disorder are less likely to benefit.
Why it matters
Potential benefit: If successful, this could lead to earlier and more accurate diagnosis of inherited heart diseases, enabling earlier treatment and family testing.
How similar studies have performed: AI-based image analysis and combined genetics approaches have shown promise for finding missed cases, but applying them systematically for HCM and ATTR-CM is still relatively new.
Where this research is happening
Durham, United States
- Duke University — Durham, United States (Active)
Researchers
- Principal investigator: Shah, Svati H. — Duke University
- Study coordinator: Shah, Svati H.
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.