Understanding Genetic Changes in Muscular Dystrophy
Massively-parallel functional interrogation of genetic variation in CMD-associated alpha-dystroglycan glycosylating enzymes
This project aims to better understand the genetic changes that cause certain types of muscular dystrophy, helping doctors diagnose these conditions more accurately.
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 ID | NIH-11146458 on NIH RePORTER |
What this research studies
Many forms of muscular dystrophy, including congenital muscular dystrophy (CMD) and limb-girdle muscular dystrophy (LGMD), are caused by changes in specific genes. These conditions lead to muscle weakness and degeneration, making it hard to walk and breathe over time. Currently, it can be difficult to tell if a newly found genetic change in a patient is truly causing their disease. Our team is developing a new way to test a vast number of these genetic changes to see how they affect muscle function. This work will help us improve how we interpret genetic test results for patients with these muscle diseases.
Who could benefit from this research
Good fit: This research is most relevant to patients with suspected or diagnosed congenital muscular dystrophy (CMD) or limb-girdle muscular dystrophy (LGMD), or those with a family history of these conditions.
Not a fit: Patients whose muscular dystrophy is not linked to genetic changes in alpha-dystroglycan glycosylating enzymes may not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to earlier and more accurate diagnoses for patients with muscular dystrophy, potentially opening doors for preventative gene therapies or other treatments.
How similar studies have performed: This project employs a new approach called deep mutational scanning to characterize genetic variants, which is a novel method for this specific application in dystroglycanopathy genes.
Where this research is happening
Saint Louis, United States
- Washington University — Saint Louis, United States (Active)
Researchers
- Principal investigator: Haller, Gabriel E — Washington University
- Study coordinator: Haller, Gabriel E
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.