PhD, FRSC, FRS
Our research focuses on mechanisms underlying the regulation of gene expression and how these mechanisms are disrupted in human diseases and disorders. Most of our research is directed at understanding how alternative splicing is regulated and integrated with other layers of gene expression to control fundamental biological processes. For example, we have discovered alternative splicing "switches" with critical roles in the regulation of transcriptional programs required for neural and embryonic stem cell fate. More recently, we have discovered and characterized a highly conserved alternative splicing regulatory network comprising 3-27 nt neuronal microexons, and have provided evidence that the disruption of this network represents a common mechanism underlying autism spectrum disorders.
Our highly collaborative research program utilizes a wide range of approaches, from bioinformatics and functional genomics to focused molecular, biochemical, cell biological methods, as well as the generation of animal models. We have pioneered the development and application of technologies for the genome-wide quantitative profiling of transcriptomes, RNA interactomes, as well as new CRISPR-based methods designed to comprehensively elucidate RNA regulatory networks. These efforts are uncovering remarkable landscapes of new regulations that await further investigation. They are also providing insight into possible new therapeutic strategies for the treatment of human diseases and disorders.
- Donnelly Centre
- Vector Institute for Artificial Intelligence