PRDM16-linked heart disease in 1p36 deletion syndrome
Official title: PERM1, a new therapeutic target for PRDM16-associated cardiomyopathy
Funded at Utah State Higher Education System--University of Utah · NIH-11450960 · Data updated 2026-11-12
A research project aims to find treatments for a genetic form of heart disease linked to 1p36 deletion syndrome and PRDM16 mutations, focusing on why women are affected more and how to intervene early.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Utah State Higher Education System--University of Utah NIH-funded |
| Lab location | 1 site (Salt Lake City, United States) |
| Project start | August 10, 2026 |
| Project end | April 30, 2030 |
| Funding year | 2026 |
| Award (this year) | $702,042 |
| NIH project number | 1R01HL184520-01A1 |
| Project ID | NIH-11450960 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates include individuals with 1p36 deletion syndrome or PRDM16 loss-of-function variants, particularly females with early-onset cardiomyopathy who could contribute to iPSC models or participate in registry data collection.
✕Less likely to help
Patients without 1p36 deletion or PRDM16 alterations, or those without cardiomyopathy, may not directly benefit from this targeted research.
What this research studies
This project investigates why loss of PRDM16 causes serious heart problems in people with 1p36 deletion syndrome, including left ventricular non-compaction and dilated cardiomyopathy. The team will study female-specific molecular pathways in the heart and create a global registry of PRDM16 variant carriers, using patient-derived iPSCs to model disease. By combining clinical data, stem cell models, and multi-institution collaboration, researchers hope to identify targets for therapies and improve outcomes for affected individuals, especially women. The work could lead to early intervention strategies and more personalized care for patients with this genetic condition.
Why it matters
Potential benefit: If successful, this work could lead to targeted therapies and earlier treatment options for people with 1p36 deletion syndrome and PRDM16-related heart disease, potentially improving survival and quality of life.
How similar studies have gone: Preclinical and translational work with PRDM16 and cardiac development has shown disease relevance, but sex-specific mechanisms and a global registry approach are still emerging.
Where this research is happening
-
Utah State Higher Education System--University of Utah
Salt Lake City, United States Active
Researchers
- Principal investigator: Boudina, Sihem — Utah State Higher Education System--University of Utah
- Study coordinator: Boudina, Sihem
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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.