Selective gene-silencing for DNAJB6-related limb-girdle muscular dystrophy (LGMDD1)
Allele Specific Knockdown for LGMDD1
This project is developing a way to silence the harmful DNAJB6 gene to help people with LGMDD1, a dominantly inherited form of limb-girdle muscular dystrophy.
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-11285473 on NIH RePORTER |
What this research studies
Researchers are creating a therapy that targets and turns down only the mutant copy of the DNAJB6 gene while leaving the normal copy intact. They will test the approach in laboratory cell systems and animal models and use viral delivery methods to reach muscle tissue. The work focuses on stopping toxic protein buildup that causes muscle weakness and degeneration. Successful preclinical results would guide the design of future human trials.
Who could benefit from this research
Good fit: People with a confirmed disease-causing DNAJB6 mutation (LGMDD1), particularly those with early or progressive limb-girdle muscle weakness, would be the ideal candidates for follow-up clinical work from this project.
Not a fit: Patients who do not have a DNAJB6 mutation or who have other types of muscular dystrophy are unlikely to benefit from this specific therapy.
Why it matters
Potential benefit: If successful, this approach could reduce the toxic effect of the mutant gene and help preserve muscle strength and function in people with LGMDD1.
How similar studies have performed: Allele-specific gene-silencing approaches have shown promise in lab models and early clinical work for some dominant neurological diseases, but applying allele-specific knockdown to DNAJB6/LGMDD1 is a newer and less-tested approach.
Where this research is happening
Saint Louis, United States
- Washington University — Saint Louis, United States (Active)
Researchers
- Principal investigator: Findlay, Andrew — Washington University
- Study coordinator: Findlay, Andrew
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.