Using advanced genetic techniques to find causes of muscle disorders
Official title: Integrating multiomic analyses for gene discovery andgenetic diagnosis of Mendelian myopathies
Funded at Brigham and Women's Hospital · NIH-11037890 · Data updated 2026-11-12
This study is looking to help people with genetic muscle disorders by using advanced technology to better understand their conditions, so they can get more accurate diagnoses and possibly new treatment options.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Brigham and Women's Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | February 16, 2024 |
| Project end | January 31, 2029 |
| Funding year | 2025 |
| Award (this year) | $173,880 |
| NIH project number | 5K23AR083505-02 |
| Project ID | NIH-11037890 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals under 21 years old who are suspected of having Mendelian myopathies but have not received a molecular diagnosis.
✕Less likely to help
Patients with diagnosed Mendelian myopathies or those over 21 years old may not benefit from this research.
What this research studies
This research focuses on improving the diagnosis of Mendelian myopathies, which are genetic muscle disorders that often go undiagnosed. The project will utilize advanced techniques like genome sequencing, transcriptome sequencing, and proteomics to analyze genetic information from patients. By studying a group of around 200 individuals with these conditions, the research aims to identify new genetic variants and enhance the understanding of these complex disorders. Patients will benefit from a more accurate diagnosis and potential new treatment options based on their genetic profiles.
Why it matters
Potential benefit: If successful, this research could lead to more accurate diagnoses and targeted treatments for patients with Mendelian myopathies.
How similar studies have gone: Previous research has shown promise in using multiomic approaches for genetic diagnosis, indicating potential success for this novel application.
Where this research is happening
-
Brigham and Women's Hospital
Boston, United States Active
Researchers
- Principal investigator: Ganesh, Vijay S — Brigham and Women's Hospital
- Study coordinator: Ganesh, Vijay S
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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.