Understanding familial dilated cardiomyopathy to guide personalized treatments
Official title: Unraveling the pathogenesis of familial dilated cardiomyopathy towards precision medicine
Funded at Stanford University · NIH-11258530 · Data updated 2026-11-12
This project will try boosting a stress-response protein called ATF4 to improve heart muscle function in people with inherited dilated cardiomyopathy.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Stanford University NIH-funded |
| Lab location | 1 site (Stanford, United States) |
| Project start | July 1, 2018 |
| Project end | January 31, 2027 |
| Funding year | 2026 |
| Award (this year) | $507,129 |
| NIH project number | 5R01HL139679-08 |
| Project ID | NIH-11258530 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates are people with familial or genetically confirmed dilated cardiomyopathy who could donate blood or skin for cell-based studies or join future clinical trials.
✕Less likely to help
People without dilated cardiomyopathy, those with non-genetic causes of heart failure, or patients with end-stage disease needing transplant may not benefit from this early-stage work.
What this research studies
Researchers will use stem cells taken from patients to grow heart cells in the lab and see whether increasing ATF4 improves the cells' ability to contract across different genetic causes of DCM. They will study how ATF4 controls one-carbon metabolism, a set of chemical pathways that help heart cells handle stress. The team will deliver ATF4 to the heart using an AAV gene-delivery method in animal models to test whether it can halt or reverse disease progression. If the lab and animal results are promising, the approach could move toward a mutation-agnostic gene therapy and future human trials.
Why it matters
Potential benefit: If successful, this work could lead to a new gene-based therapy that helps prevent or reverse heart muscle weakening across many genetic forms of DCM.
How similar studies have gone: AAV gene-delivery has shown promise in some cardiac conditions, but targeting ATF4 as a mutation-agnostic therapy for DCM is largely novel and currently at the preclinical stage.
Where this research is happening
-
Stanford University
Stanford, United States Active
Researchers
- Principal investigator: Karakikes, Ioannis — Stanford University
- Study coordinator: Karakikes, Ioannis
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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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.
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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.
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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.
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.