Alternative Splicing in Health and Disease

"Alternative splicing (AS) is a mechanism that allows the formation of several functionally different transcripts starting from a single gene, enhancing proteome complexity without the need of an increased number of genes. Interestingly, the average number of splicing isoforms per gene is higher in vertebrates, implying that alternative splicing contributes increase evolutionary complexity. In particular, in the nervous system, AS represents a potent regulatory mechanism of protein functions, and is regulated by specific developmental programs affecting embryonic patterning, cell-fate determination, axon guidance and synaptogenesis. In mature neurons, specific alternative splicing pathways can be controlled by neuronal activity and modulate neuronal plasticity.
The goal of the course is to provide an overview on remarkable example of alternative splicing events in physiology and pathology, with a particular emphasis on the nervous system.
The course will describe methods to study mechanism and relevance of alternative splicing in vitro and in vivo. Moreover, the therapeutic relevance of antisense-mediated exon skipping will be discussed as successful therapeutic approach for genetic disease. The course will be organized in two sessions in May 2023 at LITA, Segrate. At the end of the course, the student will have to take an assessment test.