Ingrid Kolen, Universitätsklinikum Heidelberg (supervisor: Rebecca Schüle)
Within MMM, my project focusses on developing antisense oligonucleotide (ASO) therapy for patients with a rare form of Amyotrophic Lateral Sclerosis (ALS). As a proof of concept, at least one ASO targeting strategy, such as exon inclusion or exon skipping, will be further researched for the development of single patient tailored splice modulating ASOs for ALS. Furthermore, my project focusses on identifying cryptic splice variants on a large scale as potential new targets for single patient tailored splice modulating antisense oligonucleotides (ASOs). For the identification cryptic splice variants, several AI based splice prediction tools have been developed in the recent years. To evaluate their accuracy and performance, predicted splice variants will be compared to real-world splice variants. Moreover, a catalogue of neuro severely debilitating or life-threatening diseases will be compiled to prioritize the development of splice modulating ASOs for more severe conditions.