Investigating genetic variations that affect muscle diseases.
Official title: Massively-parallel functional interrogation of genetic variation in CMD-associated alpha-dystroglycan glycosylating enzymes
Funded at Washington University · NIH-10936537 · Data updated 2026-11-12
This study is looking at how changes in certain genes affect muscle diseases like congenital muscular dystrophy and limb-girdle muscular dystrophy, with the goal of helping patients get better diagnoses and treatments, including early genetic testing and possible gene therapy.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Washington University NIH-funded |
| Lab location | 1 site (Saint Louis, United States) |
| Project start | September 26, 2023 |
| Project end | June 30, 2028 |
| Funding year | 2024 |
| Award (this year) | $349,249 |
| NIH project number | 5R01AR081901-02 |
| Project ID | NIH-10936537 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with a family history of CMD or LGMD, particularly those who may be pre-symptomatic or have recently been diagnosed.
✕Less likely to help
Patients with muscle diseases not associated with alpha-dystroglycan glycosylation mutations may not benefit from this research.
What this research studies
This research focuses on understanding how mutations in specific genes that glycosylate alpha-dystroglycan contribute to muscle diseases like congenital muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD). By using advanced techniques to analyze numerous genetic variants, the study aims to improve the diagnosis and treatment options for these conditions. Patients may benefit from early genetic testing, which could lead to timely interventions such as gene therapy. The research seeks to enhance our understanding of how these genetic variations impact muscle function and disease progression.
Why it matters
Potential benefit: If successful, this research could lead to improved diagnostic methods and new treatment options for patients with muscle diseases.
How similar studies have gone: Previous research has shown promise in using genetic analysis and CRISPR techniques to understand and treat genetic muscle disorders, indicating that this approach may yield valuable insights.
Where this research is happening
-
Washington University
Saint Louis, United States Active
Researchers
- Principal investigator: Haller, Gabriel E — Washington University
- Study coordinator: Haller, Gabriel E
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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.