pre-mRNA splicing modulators
Categories: Past WebinarsPublished On: January 27th, 2021


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.

Presenter Biography

Isabel Aznarez, Ph.D.
Stoke Therapeutics

Isabel Aznarez, Ph.D. is a co-founder and Vice President, Head of Biology at Stoke Therapeutics, a Massachusetts-based biotechnology company that is pioneering a new way to treat the underlying cause of severe genetic diseases by precisely upregulating protein expression. Dr. Aznarez has more than 20 years of experience in the fields of human genetics and RNA metabolic pathways such as pre-mRNA splicing and nonsense-mediated mRNA decay. In the last 8 years, she has applied antisense oligonucleotides to modulate RNA processes to develop therapeutic approaches for genetic diseases. Dr. Aznarez currently serves as a member of the Board of Directors at the Oligonucleotide Therapeutics Society. Prior to founding Stoke Therapeutics in 2014, she was a Research Investigator with Professor Adrian Krainer at Cold Spring Harbor Laboratory, whose lab she joined as a postdoctoral fellow in 2008. Previously, Dr. Aznarez was a researcher at the Hospital for Sick Children with Professor Lap-Chee Tsui, where she focused on the effect of cystic fibrosis mutations on the splicing of the CFTR gene. Isabel holds a Ph.D. in Molecular and Medical genetics from the University of Toronto, Canada and a B.Sc. in Biology and Human Genetics from the University of the Republic, Uruguay.