Finding harmful gene changes in heart muscle proteins
Computational Pipeline for Identification of Disease-Causing Variants in Genes of the Cardiac Sarcomere
A computer tool will predict whether rare changes in heart muscle genes cause inherited heart problems like hypertrophic or dilated cardiomyopathy, helping patients and families understand genetic test results.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Yale University NIH-funded |
| Lab location | 1 site (New Haven, United States) |
| Project ID | NIH-11180077 on NIH RePORTER |
What this research studies
If you or your family have unexplained hypertrophic or dilated cardiomyopathy, this project aims to make genetic test results clearer. The team is building a computational pipeline that uses biophysical models, patient data, and benchmarking to classify rare variants in sarcomere genes that control heart muscle contraction. They focus on variants of unknown significance that are unique to families and expensive to test experimentally. The final tool is intended to be scalable so clinicians can use it for earlier diagnosis and family risk screening.
Who could benefit from this research
Good fit: Best candidates are people with a family history of hypertrophic or dilated cardiomyopathy or those who have a sarcomere gene variant of unknown significance from genetic testing.
Not a fit: People with heart disease caused by non-sarcomere genes or those without any genetic testing are less likely to benefit directly.
Why it matters
Potential benefit: If successful, the tool could give clearer genetic answers for families, enabling earlier monitoring or preventive care for people at risk.
How similar studies have performed: Some gene-specific prediction methods and clinical genetic testing programs have helped families, but broad, accurate prediction for sarcomere variants is still challenging and this focused computational approach is relatively novel.
Where this research is happening
New Haven, United States
- Yale University — New Haven, United States (Active)
Researchers
- Principal investigator: Campbell, Stuart G — Yale University
- Study coordinator: Campbell, Stuart G
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.