LATE BREAKING NEWS E-POSTER PRESENTATION: LBP 1 From mouse- to patient-relevant models: Using CRISPR activation to upregulate a compensatory disease-modifying gene in LAMA2-CMD

Abstract

LAMA2-deficient congenital muscular dystrophy (LAMA2-CMD or MDC1A) is caused by mutations in the LAMA2 gene encoding the LAMA2 protein, resulting in muscle degeneration and peripheral neuropathy in patients. There are >650 pathogenic mutations identified in patients worldwide, therefore, individualized correction of LAMA2 mutation would be an extremely challenging and expensive undertaking.