Unlocking how rare genetic changes cause dilated cardiomyopathy
Official title: Discovery and Characterization of Rare Variant Effects in Dilated Cardiomyopathy via Large-Scale Biobank Analysis
Funded at Vanderbilt University Medical Center · NIH-11420431 · Data updated 2026-11-12
A large study will look at genetic data from many people to understand which rare variants affect dilated cardiomyopathy and how this changes risk and treatment.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Vanderbilt University Medical Center NIH-funded |
| Lab location | 1 site (Nashville, United States) |
| Project start | May 15, 2023 |
| Project end | April 30, 2027 |
| Funding year | 2026 |
| Award (this year) | $653,208 |
| NIH project number | 5R01HL167509-04 |
| Project ID | NIH-11420431 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with dilated cardiomyopathy or those undergoing genetic testing for DCM may benefit from the study’s insights.
✕Less likely to help
Individuals without or unrelated to dilated cardiomyopathy are unlikely to benefit directly.
What this research studies
This project uses a big biobank approach to map rare genetic variants to dilated cardiomyopathy outcomes, aiming to improve how we interpret genetic test results for patients and families. By analyzing diverse populations and combining genetic data with clinical information, the study hopes to refine which variants matter and how they influence disease features. The work will create a large, harmonized data platform to study genotype-phenotype links and inform future clinical management.
Why it matters
Potential benefit: If successful, the findings could make genetic testing more informative for patients with DCM and their relatives, guiding care and risk assessment.
How similar studies have gone: Previous studies show that large-scale genetic analyses can reveal important genotype-phenotype links, but gaps remain in diversity and gene interpretation that this project addresses.
Where this research is happening
-
Vanderbilt University Medical Center
Nashville, United States Active
Researchers
- Principal investigator: Wells, Quinn Stanton — Vanderbilt University Medical Center
- Study coordinator: Wells, Quinn Stanton
Related research
Other NIH-funded projects on the same topics.
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Discovery of rare genetic variants linked to dilated cardiomyopathy using big biobank data
A large-scale genetic study will look for rare gene variants that affect dilated cardiomyopathy to improve how we diagnose and manage the condition.
-
Understanding how muscle ribosome mutations cause severe neonatal dilated cardiomyopathy and ways to treat it
This grant focuses on a rare genetic heart condition in newborns caused by mutations in a muscle-specific ribosomal protein, with hopes to find new ways to diagnose and treat it.
-
Role of Lmod2 in heart muscle and dilated cardiomyopathy
This NIH grant explores how a heart-specific protein (Lmod2) helps heart cells contract properly and how its problems can cause dilated cardiomyopathy in infants and children.
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Targeting DNA Damage Pathways in LMNA-Related Heart Disease
A study to understand how damaged DNA and inflammatory signals contribute to dilated cardiomyopathy caused by LMNA mutations and explore therapies that can protect the heart.
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Using miRNA to find new treatment paths for dilated cardiomyopathy
Researchers are studying heart-muscle disease (dilated cardiomyopathy) to discover miRNA-based clues that could lead to targeted therapies for patients.
-
Skeletal muscle actin mutations and heart disease: understanding how a specific mutation affects heart function
A physician-scientist at Johns Hopkins is studying how a skeletal muscle protein mutation (ACTA1 R256H) affects heart muscle function to help people with dilated cardiomyopathy.
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.