How common DNA switches change inherited cardiomyopathy risk
Cis regulatory variants of haploinsufficiency genes as cardiomyopathy modifiers
This project looks at common DNA changes near heart-disease genes that can alter how much of those genes are made and influence inherited cardiomyopathy severity.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Michigan at Ann Arbor NIH-funded |
| Lab location | 1 site (Ann Arbor, United States) |
| Project ID | NIH-11128437 on NIH RePORTER |
What this research studies
From a patient's point of view, researchers are studying people who carry gene changes that lower the amount of an important heart protein and comparing DNA near those genes to find other common variants that change gene activity. They will measure which gene copy is more active (allelic imbalance) and link those patterns to clinical differences in heart function. The team uses genetic sequencing, molecular assays, and likely patient heart tissue or blood samples to measure gene expression and regulatory activity. The goal is to pinpoint which noncoding DNA changes act as modifiers of disease for genes like MYBPC3 and DSP.
Who could benefit from this research
Good fit: Ideal candidates are people who carry known truncating or loss-of-function variants in cardiomyopathy genes (for example MYBPC3 or DSP) or relatives from families with inherited hypertrophic or arrhythmogenic cardiomyopathy.
Not a fit: People whose heart disease is not caused by haploinsufficiency of the studied genes, or those without relevant genetic findings, are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, this work could help predict who with an inherited cardiomyopathy gene is more likely to develop severe disease and guide personalized monitoring or treatment decisions.
How similar studies have performed: Prior work has shown that noncoding variants can cause allelic imbalance and modify gene expression, but applying these findings specifically to haploinsufficiency-driven cardiomyopathies is still an emerging area.
Where this research is happening
Ann Arbor, United States
- University of Michigan at Ann Arbor — Ann Arbor, United States (Active)
Researchers
- Principal investigator: Helms, Adam S — University of Michigan at Ann Arbor
- Study coordinator: Helms, Adam S
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.