Project Overview

Schizophrenia is a common and serious mental illness characterized by psychotic symptoms, social withdrawal and functional disabilities that are generally lifelong. Response to treatment with antipsychotics is variable and the manifestation of common side effects, including serious motor symptoms, is unpredictable. There is growing interest in the clinical and predictive value of using pharmacogenetic testing to determine a patient’s response to antipsychotic drugs. For this project, Dr. Butcher  will investigate the antipsychotic treatment response and functional and structural brain phenotypes in adults with 22q11.2 deletion syndrome (22q11.2DS), the only confirmed molecular genetic subtype of schizophrenia.

The objectives of this study are three-fold. 1) To investigate the utility of a pharmacogenetic approach in the treatment response (efficacy and side-effect profile) of adults with a molecularly defined subtype of schizophrenia,22q11.2DS, that is clinically indistinguishable from other forms of schizophrenia in terms of psychiatric features.3 2) To identify best practices for antipsychotic treatment in the co-occurrence of schizophrenia and PD in 22q11.2DS given that the risk of PD is elevated in 22q11.2DS.4 and 3) To evaluate the use of transcranial sonography, an ultrasound of the head, as a faster, cheaper, and non-invasive alternative method to PET scanning and biomarker of early-onset PD that could also delineate motor symptoms from antipsychotic side effects. As a secondary objective, whole-genome sequencing will be used to investigate variants that could mediate treatment response and the inherent vulnerability of individuals with 22q11.2DS to schizophrenia and PD.

Principal Investigator

Nancy Butcher , University of Toronto

Partners and Donors

Bell Canada