Summary:
Laminin 211, containing the laminin-α2 chain encoded by LAMA2, is essential for skeletal muscle integrity. Mutations in LAMA2 cause LAMA2-related muscular dystrophies (LAMA2-MD), severe conditions lacking curative treatments. This project aims to develop an all-in-one CRISPR-Cas9 gene-editing system delivered via muscle-specific rAAV vectors to correct patient-specific LAMA2 mutations. Efficiency will be tested in both 2D and 3D patient-derived muscle cell models. By avoiding limitations of animal models and targeting the main mutation type—single nucleotide variants—this project proposes a precise, human-relevant therapeutic strategy that could significantly advance treatment for LAMA2-MD and related neuromuscular disorders.
Funding Institution:
Fundação para a Ciência e Tecnologia
