Alternative Splicing in Human Diseases
Alternative splicing is a central driver of molecular diversity in complex organisms. Through the production of distinct mRNAs and proteins, the cell is able to increase the ways in which biological processes can be regulated. However, in many common and rare diseases, typical gene splicing is disrupted, resulting in aberrant gene products that can negatively impact cell structure, function, viability or communication. We study the interplay between gene splicing, transcription, and epigenetics to understand pathological states in which global gene splicing is altered, impacted cellular products that contribute to disease and possible avenues for therapeutic intervention.
Image: proteomic impact of alternative splicing in the gene CASP9.