Investigating genetic variants that affect heart muscle disorders
Official title: Cis regulatory variants of haploinsufficiency genes as cardiomyopathy modifiers
Funded at University of Michigan at Ann Arbor · NIH-10976522 · Data updated 2026-11-12
This study is looking at how certain genes might affect the severity of heart muscle conditions, like hypertrophic cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy, to help find more personalized treatment options for patients based on their unique genetic traits.
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 start | July 1, 2024 |
| Project end | June 30, 2029 |
| Funding year | 2024 |
| Award (this year) | $756,039 |
| NIH project number | 1R01HL171074-01A1 |
| Project ID | NIH-10976522 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with hypertrophic cardiomyopathy or arrhythmogenic left ventricular cardiomyopathy, particularly those with known genetic variants.
✕Less likely to help
Patients without a diagnosis of cardiomyopathy or those with other unrelated heart conditions may not benefit from this research.
What this research studies
This research focuses on understanding how specific genetic variants influence the severity of cardiomyopathies, which are conditions that impair heart muscle function. By examining noncoding variants in regulatory elements of key genes, the study aims to identify genetic modifiers that affect the expression of these genes in patients with hypertrophic cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy. The approach includes advanced genetic analysis techniques, such as CRISPR, to explore how these variants impact heart health. Patients may benefit from insights that could lead to more personalized treatment options based on their genetic makeup.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnosis and treatment strategies for patients with cardiomyopathies based on their unique genetic profiles.
How similar studies have gone: Previous research has shown promising results in understanding genetic modifiers in other conditions, suggesting that this approach could yield valuable insights for cardiomyopathy as well.
Where this research is happening
-
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
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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.