Understanding how muscle ribosome mutations cause severe neonatal dilated cardiomyopathy and ways to treat it
Official title: Pathogenic Mechanisms and Therapeutic Strategies of Dilated Cardiomyopathy Linked to Muscle-specific Ribosomes
Funded at Columbia University Health Sciences · NIH-11433394 · Data updated 2026-11-12
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.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Columbia University Health Sciences NIH-funded |
| Lab location | 1 site (New York, United States) |
| Project start | August 15, 2026 |
| Project end | May 31, 2030 |
| Funding year | 2026 |
| Award (this year) | $804,516 |
| NIH project number | 1R01HL187927-01 |
| Project ID | NIH-11433394 on NIH RePORTER |
Who could benefit from this research
✓Could help
Newborns and infants with severe neonatal dilated cardiomyopathy linked to RPL3L mutations may be eligible for future translational efforts or related studies.
✕Less likely to help
Infants without RPL3L-related DCM or without access to related trials may not benefit.
What this research studies
The project aims to uncover why certain ribosomal protein mutations lead to severe heart disease in newborns and to develop potential therapies. Researchers will study the role of the muscle-specific RPL3L protein, its interaction with the ribosome, and how its deficiency disrupts heart muscle function. They will explore why animal models don’t fully recapitulate the human disease and investigate compensatory mechanisms involving RPL3. The work will involve genetic analyses, model systems, and therapeutic strategy development to target the underlying mechanisms. The long-term goal is to translate these findings into better diagnostics and treatments for affected families.
Why it matters
Potential benefit: If successful, this work could lead to earlier diagnosis and new treatment approaches for babies with this form of dilated cardiomyopathy.
How similar studies have gone: Previous studies have begun to identify RPL3L's role in DCM, but the exact disease mechanism and effective therapies remain to be established.
Where this research is happening
-
Columbia University Health Sciences
New York, United States Active
Researchers
- Principal investigator: Wu, Xuebing — Columbia University Health Sciences
- Study coordinator: Wu, Xuebing
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.
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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.
-
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.
-
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.