Host: The Japanese Society of Toxicology
Name : The 50th Annual Meeting of the Japanese Society of Toxicology
Date : June 19, 2023 - June 21, 2023
Deep-intronic splicing mutations often cause inclusion of a pseudo exon, which in turn produces a premature stop codon leading to genetical inactivation. Number of disease-associated pseudo exonic mutations has dramatically increased because of recent advances in whole genome sequencing and transcriptome analysis. In contrast, mechanisms involved in pseudo exon recognition remain poorly explored. Understanding the mechanism of a disease-related splicing is crucial for finding an effective therapeutic strategy, as characterization of SMN2 exon 7 splicing led to development of Nusinersen for spinal muscular atrophy. In our hands, as previously demonstrated, splice-targeting therapeutics were achieved using small molecule compounds for genetic diseases such as Duchenne muscular dystrophy, NEMO deficiency syndrome, and familial dysautonomia, by targeting splicing regulators. By analyzing genetic information with AI, we established a novel therapeutic strategy for the inherited diseases caused by pseudo exonic mutations with our splicing chemical regulators.
