Understanding muscle issues in Kabuki syndrome
Epigenetic dysregulation of muscle differentiation in Kabuki syndrome
This study is looking into why some people with Kabuki syndrome have weak muscles, using mice to learn how certain gene changes affect muscle strength, with the hope of finding better ways to help those who have this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Boston Children's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project ID | NIH-10987029 on NIH RePORTER |
What this research studies
This research investigates the underlying causes of muscle weakness in patients with Kabuki syndrome, a rare genetic disorder. The team will use mouse models to explore how mutations in specific genes affect muscle function and development. By studying both the genetic and cellular aspects of muscle tissue, the research aims to identify the primary defects leading to muscle hypotonia. The findings could enhance our understanding of the condition and inform better care strategies for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Kabuki syndrome, particularly those experiencing muscle weakness or hypotonia.
Not a fit: Patients without Kabuki syndrome or those who do not exhibit muscle-related symptoms may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved treatments and interventions for muscle weakness in Kabuki syndrome patients.
How similar studies have performed: While research on Kabuki syndrome is limited, similar genetic studies in other muscle disorders have shown promising results, suggesting potential for success in this area.
Where this research is happening
Boston, United States
- Boston Children's Hospital — Boston, United States (Active)
Researchers
- Principal investigator: Gussoni, Emanuela — Boston Children's Hospital
- Study coordinator: Gussoni, Emanuela
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.