Understanding the Genetics of Facioscapulohumeral Muscular Dystrophy (FSHD)
Genetic and epigenetic mechanisms of FSHD pathogenesis
This research aims to better understand the genetic and cellular changes that cause Facioscapulohumeral Muscular Dystrophy (FSHD), a common muscle weakening condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of California-Irvine NIH-funded |
| Lab location | 1 site (Irvine, United States) |
| Project ID | NIH-11097323 on NIH RePORTER |
What this research studies
Facioscapulohumeral Muscular Dystrophy (FSHD) is a muscle disease that currently has no effective treatments, and we don't fully understand how it develops. Most cases of FSHD are linked to a specific genetic change on chromosome 4, while a smaller number of cases involve other genetic mutations. We know that a gene called DUX4 plays a critical role in FSHD, but its exact function is complex and not fully clear. This project explores how DUX4 and other related genes contribute to muscle damage in FSHD, looking beyond just DUX4's direct effects on cells.
Who could benefit from this research
Good fit: This foundational research is relevant to all individuals living with Facioscapulohumeral Muscular Dystrophy (FSHD), regardless of their specific genetic subtype.
Not a fit: Individuals without Facioscapulohumeral Muscular Dystrophy (FSHD) would not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could uncover new ways to target the underlying causes of FSHD, leading to the development of much-needed treatments.
How similar studies have performed: This project builds upon previous findings by the research team, suggesting a progressive understanding of FSHD mechanisms.
Where this research is happening
Irvine, United States
- University of California-Irvine — Irvine, United States (Active)
Researchers
- Principal investigator: Yokomori, Kyoko — University of California-Irvine
- Study coordinator: Yokomori, Kyoko
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 below.