Making medicines out of pre-mRNA splicing modulators
Presenter: Isabel Aznarez, Ph.D. Stoke Therapeutics
Date: April 29th, 2021
Splicing is the process that edits precursor-messenger RNA (pre-mRNA) to generate the messenger RNA (mRNA) that carries the code from the nucleus to the cytoplasm where the ribosomes will translate it into a protein. The splicing reaction is carried out by a multi-ribonucleoprotein complex that excises the introns (non-coding regions) out from the pre-mRNA and joins the exons (coding regions) together to form the mRNA.
Through the years, a great deal of knowledge has accumulated regarding the regulation of pre-mRNA splicing which enabled the vision of targeting this process as a therapeutic approach. While the splicing world was uncovering the nuts and bolts of the splicing reaction, antisense oligonucleotides (ASOs) were being explored as a therapeutic modality to target RNA. Built on decades of work in both field, ASO-mediated modulation of splicing became a therapeutic reality in 2016 with the approval of the first medicine that target splicing. Since then, three additional medicines have been approved and an n-of-1 treatment was developed to address three different types of diseases and several more are in clinical trials. This webinar will focus on the understanding of splicing and ASO-mediated modulation of this process for the treatment of genetic diseases.