Toward mechanism-based diagnostics and disease interventions—
Combining CRISPR-Cas9 gene editing with functional proteomics
The focus of the Schmitt-Ulms laboratory at the University of Toronto is the development of models and methods for studying proteins that cause neurodegenerative diseases, with the goal of generating insights that will lead to novel angles for diagnosis or intervention. Within this general theme, they specialize in the study of tauopathies—which include Alzheimer’s disease and a subset of frontotemporal dementias—and in the identification of the missing links in aberrant signaling pathways triggered by the formation of oligomeric amyloid beta peptide (oAβ). Two CRISPR-Cas9 applications have been transformative for their work: (1) the generation of knockout models of specific genes of interest and (2) the introduction of mutations known to underlie human diseases.