Grant: Operating Grant

In order to function properly, genes need to undergo a process known as pre-mRNA splicing, where exons are joined together and non-protein coding intronic sequences are removed from the mature transcript. Several human genetic diseases are caused by mutations in splicing factors - proteins involved in splicing. We have recently identified several novel splicing factors that are mutated in specific human diseases. In this project, we will use genomic approaches to investigate the downstream effects of the mutations and attempt to identify key genes whose splicing is disrupted by the mutations. This research will help us understand the molecular mechanisms of the RNA splicing process and how its dysregulation results in the phenotypic defects observed in the patients.