Ronald A. Conlon

This study develops a platform to screen and rescue multiple splicing mutations using a single exon-specific U1 snRNA, showing effectiveness in rescuing 3 and 5 splice site mutations in CFTR exon 18.

This paper shows that reducing PLP1 expression in a mouse model of PMD improves myelination, motor function, and lifespan, supporting PLP1 suppression as a therapeutic strategy.