Medicine & Dentistry-Biochemistry
University of Alberta
Summary of research:
Regulation of gene expression in our cells is necessary for normal development as well as proper functioning within our tissues and occurs through multiple mechanisms. We study the means by which specific modifications of the RNA molecule, especially the process referred to as RNA splicing, effects the expression of our genetic program. Mis-regulation of these processes underlies ~half of human genetic diseases, with multiple relevance to the health of women and children. For example, mutations in our genes, disrupt splicing and underlie or contribute to diverse human cancers including leukemias and breast cancer. Inherited disease in infants and children ranging from a degenerative condition leading to blindness to cancer to spinal muscular atrophy (SMA) all feature mutations in components of the splicing machinery. Our work is aimed at understanding the basic mechanisms of splicing as well as the basis of mis-regulation. Our goal is to better understand the underlying causes and pathology of diseases related to gene regulation involving RNA. At the same time, these studies should provide the basis for improved diagnostics and provide the rationale for the development of new therapeutic approaches.