Molecular basis of a rare LMNA-related muscle disease and potential gene-editing therapy
Official title: The Molecular Basis of R249W LMNA-related Congenital Muscular Dystrophy
Funded at Univ of Maryland, College Park · NIH-11374055 · Data updated 2026-11-12
A small NIH-funded project will study how a specific LMNA mutation causes early muscle weakness and explore a potential correction with a gene-editing approach using patient cells.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Univ of Maryland, College Park NIH-funded |
| Lab location | 1 site (College Park, United States) |
| Project start | June 25, 2026 |
| Project end | May 31, 2028 |
| Funding year | 2026 |
| Award (this year) | $424,743 |
| NIH project number | 1R21HD116032-01A1 |
| Project ID | NIH-11374055 on NIH RePORTER |
Who could benefit from this research
✓Could help
Patients with LMNA-related congenital muscular dystrophy or cells derived from them could participate in future translational steps or related studies.
✕Less likely to help
People without LMNA-related muscular dystrophy are unlikely to benefit directly.
What this research studies
This project focuses on LMNA-related congenital muscular dystrophy caused by the R249W mutation. Researchers will study how the mutation affects muscle development and the structure of the cell’s nuclear lamina, using advanced imaging and biochemical techniques. They will also test an adenine base editor in patient-derived cells to see if the mutation can be corrected and whether this improves cellular function. The work combines computational modeling with lab experiments to link molecular changes to disease symptoms and explore a potential therapy. The goals are to better understand the disease and lay groundwork for future treatment strategies.
Why it matters
Potential benefit: If successful, the work could clarify how the R249W mutation drives disease and point toward a cellular strategy to correct the mutation.
How similar studies have gone: Similar approaches have shown promise in understanding LMNA-related diseases and gene-editing strategies in patient cells, but this exact mutation has limited prior study.
Where this research is happening
-
Univ of Maryland, College Park
College Park, United States Active
Researchers
- Principal investigator: Cao, Kan — Univ of Maryland, College Park
- Study coordinator: Cao, Kan
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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.