Discovery of rare genetic variants linked to dilated cardiomyopathy using big biobank data

Who could benefit from this research

What this research studies

This project uses a vast biobank to find rare genetic changes associated with dilated cardiomyopathy and to understand how these variants influence disease risk and presentation. Researchers will harmonize clinical data with genetic information, including sequencing and identity-by-descent analyses, to build a clearer picture of which variants matter for patients. The goal is to create more accurate gene-specific guidance for clinicians and families affected by DCM. The study emphasizes diverse populations to ensure findings apply broadly and to uncover variants that may have been missed in previous work. Results could ultimately lead to better risk stratification and personalized care for people with DCM and their relatives.

Why it matters

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.

• 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.

  NIH research Columbia University Health Sciences · New York, United States · NIH-11433394

• Unlocking how rare genetic changes cause dilated cardiomyopathy

  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.

  NIH research Vanderbilt University Medical Center · Nashville, United States · NIH-11420431

• 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.

  NIH research Icahn School of Medicine at Mount Sinai · New York, United States · NIH-11395217

• 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.

  NIH research University of Texas Hlth Sci Ctr Houston · Houston, United States · NIH-11394336

• 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.

  NIH research University of California, San Diego · La Jolla, United States · NIH-11381812

• 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.

  NIH research Johns Hopkins University · Baltimore, United States · NIH-11364131

About this research

1. This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
2. Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
3. For full project details, budget, and progress reports, visit the official NIH RePORTER page.