Exploring how alternative splicing and gene isoforms influence disease

Alternative splicing is crucial for eukaryotic gene expression and influences protein function and regulation, with mis-splicing linked to numerous diseases.

In this webinar, Dr. Megan L Noonan presented her research on the role of alternative splicing in kidney disease progression. She discussed how she used nanopore RNA sequencing to accurately detect and quantify full-length gene isoforms and illustrated how this research could lead to new therapeutic targets for kidney diseases.

Additionally, Christophe Fleury explored using long nanopore reads for both bulk and single-cell RNA sequencing (scRNA-seq) studies, highlighting how it can maximise the recovery of biological information and drive new discoveries.