Therapeutic Modulation of RNA Splicing in Malignant and Non-Malignant Disease

RNA splicing is the enzymatic process by which non-protein coding sequences are removed from RNA to produce mature protein-coding mRNA. Splicing is thereby a major mediator of proteome diversity as well as a dynamic regulator of gene expression. Genetic alterations disrupting splicing of individual genes or altering the function of splicing factors contribute to a wide range of human genetic diseases as well as cancer. These observations have resulted in the development of therapies based on oligonucleotides that bind to RNA sequences and modulate splicing for therapeutic benefit. In parallel, small molecules that bind to splicing factors to alter their function or modify RNA processing of individual transcripts are being pursued for monogenic disorders as well as for cancer.

Automated summary

RNA splicing is a process where non-protein coding sequences are removed from RNA to produce mature protein-coding mRNA. Genetic alterations and changes in splicing factors can lead to various human genetic diseases and cancer. Therapies based on oligonucleotides and small molecules targeting splicing factors are currently being developed for different genetic disorders and cancer.