Purpose of the STSM: The purpose of this STSM was to learn how to design experiments for CRISPR genome editing, using protocols established in the laboratory of associate professor Lourdes Ruiz Desviat at Centro de Biologia Molecular Severo Ochoa, Universidad Autónoma de Madrid. The aim of the STSM was to use CRISPR-Cas technology to introduce a patient mutationt to the genome of a mammalian cell line to generate a cellular model for investigation of pseudoexon activation, correction of aberrant splicing, and the exploitation of pseudoexons as modifiers of gene expression by antisense oligonucleotide (ASO)-mediated blocking. This contributes to the scientific objectives of the COST action CA17103; Delivery of Antisense RNA Therapeutics (DARTER). Further motivation was to be able to establish this method in the research group of professor Brage Storstein Andresen at the Department of Biochemistry and Molecular Biology, University of Southern Denmark, in which I am doing my PhD project about pseudoexon activation in human disease, which has a unique potential for tailored therapy through ASO-mediated modulation of pre-mRNA splicing.

Grantee name: Ulrika Simone Spangsberg Petersen (…)
STSM start and end date: 2019-12-10 to 2019-12-20
Title: CRISPR genome editing for generation of a cellular model to investigate ASO-mediated blocking of pseudoexons
Host lab: