Our general research interest is in building chemical and genetic tools to enable a biological pathway-based approach to gain mechanistic understanding of disease. While genetics has provided us the parts list for biology, additional approaches are needed to understand how these parts work together in healthy or diseased states. Chemical genetics allows us to fill in some of these knowledge gaps and help identify novel entry points for therapeutic intervention.
A current area of research focus is in the development of chemical and genetic tools in order to elucidate biological pathways of lysosomal storage disorders. Lysosomal storage diseases are a group of ~50 inherited metabolic disorders that result in from defects in lysosomal function. Most disorders are the consequence of a deficiency of a single enzyme required for the catabolism of lipids, glycoproteins, or mucopolysaccharides. Although most of the responsible genes and proteins associated with the different lysosomal storage disorders are known, the link from gene to the observed associated clinical pharmacology is limited. Projects of current interest in our group span a range of pathways relating to lysosomal storage diseases.