Testing pediatric cardiomyopathy genes using fruit fly models
Screen and functional validation of Pediatric Cardiomyopathy genetic variants in Drosophila
This project uses fruit flies to find which genetic changes found in children with cardiomyopathy actually harm the heart.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Maryland Baltimore NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project ID | NIH-11403792 on NIH RePORTER |
What this research studies
Researchers start with hundreds of gene changes found in children with pediatric cardiomyopathy and use computer tools to pick the variants most likely to cause problems. They then put those human gene versions into fruit flies and look for heart-related problems in the flies to see which variants disrupt heart function. This 'gene replacement' approach lets the team test many candidate variants faster than usual lab methods. The goal is to sort which mutations are likely disease-causing and which are probably harmless.
Who could benefit from this research
Good fit: Children with early-onset cardiomyopathy or families whose child has uncertain genetic findings (variants of unknown significance) in heart-related genes would be most relevant to this work.
Not a fit: People whose cardiomyopathy has no suspected genetic cause or adults with only late-onset cardiomyopathy may not receive direct benefit from this fly-based genetic screening.
Why it matters
Potential benefit: If successful, this could identify which genetic changes cause childhood cardiomyopathy and help doctors give clearer diagnoses and guide future treatments.
How similar studies have performed: Fruit fly models have previously helped link human heart genes to function, so the approach has precedent, though applying it at this scale to pediatric cardiomyopathy variants is relatively new.
Where this research is happening
Baltimore, United States
- University of Maryland Baltimore — Baltimore, United States (Active)
Researchers
- Principal investigator: Han, Zhe — University of Maryland Baltimore
- Study coordinator: Han, Zhe
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.