Bob Stowe

MD

Affiliate Investigator, BC Children's Hospital
Associate Member, Division of Neurology, Department of Medicine, Full Member, Djavad Mowafaghian Centre for Brain Health, University of British Columbia

Our research (which depends critically on the collaborative contributions of many laboratory co-investigators and other clinician-scientists) aims to identify the major genetic alterations that confer risk of severe, treatment-resistant psychosis and co-morbid neurodevelopmental and psychiatric disorders, by identifying rare or novel, mechanistically potent genetic alterations involving brain-expressed genes, with the aim of using this information to develop precision medicine (i.e., individualized treatment based on a mechanistic understanding of disease causation). Deep clinical phenotyping, clinical chromosomal microarrays, long read whole genome and short read RNA sequencing, biochemical and immunological profiling, many bioinformatic tools, and intensive genotype-phenotype correlation are utilized to detect, filter, and prioritize rare genetic variants and deliver actionable genetic and pharmacogenomic results through psychiatric genetic counselling. We collaborate with model organism and synaptic function researchers to try to identify tractable treatment targets.