Overview

My 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 major psychiatric disorders (particularly schizophrenia and related psychotic illnesses) and neurodevelopmental disorders, with the hope of using this information to develop precision medicine (i.e., individualized treatment based on a mechanistic understanding of disease causation) for psychiatric illness that fails to respond to existing treatments. My main research focus is the MAGERS project (detailed below); however, I also do case-based research in adolescents and adults living with neurodevelopmental problems (such as autism spectrum disorders and learning/intellectual disabilities), which mainly involves screening using gene chip technology for potentially causative alterations in chromosomes, and the genes they impact, that might help us identify new strategies to improve cognitive and behavioral functioning of affected individuals.

Publications

Clinical and biochemical footprints of inherited metabolic diseases. III. Psychiatric presentations.
Molecular genetics and metabolism
Horvath GA and Stowe RM and Ferreira CR and Blau N
DOI: 10.1016/j.ymgme.2020.02.007
PubMed: 32122747
02/2020

Preliminary examination of the validity of the NIH toolbox cognition battery in treatment-resistant psychosis.
The Clinical neuropsychologist
Cassetta BD and Menon M and Carrion PB and Pearce H and DeGraaf A and Leonova O and White RF and Stowe RM and Honer WG and Woodward TS and Torres IJ
DOI: 10.1080/13854046.2019.1694072
PubMed: 31782350
11/2019

A distinct neurodevelopmental syndrome with intellectual disability, autism spectrum disorder, characteristic facies, and macrocephaly is caused by defects in CHD8
Journal of Human Genetics
Heba Yasin and William T. Gibson and Sylvie Langlois and Robert M. Stowe and Erica S. Tsang and Leora Lee and Jenny Poon and Grant Tran and Christine Tyson and Chi Kin Wong and Marco A. Marra and Jan M. Friedman and Farah R. Zahir
DOI: 10.1038/s10038-019-0561-0
04/2019

Liver Transplant Can Resolve Severe Neuropsychiatric Manifestations of Wilson Disease: A Case Report
Experimental and Clinical Transplantation
DOI: 10.6002/ect.2016.0053
10/2018

Developmental Delay, Treatment-Resistant Psychosis, and Early-Onset Dementia in a Man With 22q11 Deletion Syndrome and Huntington’s Disease
American Journal of Psychiatry
Martilias Farrell and Maya Lichtenstein and James J. Crowley and Dawn M. Filmyer and Gabriel Lázaro-Muñoz and Rita A. Shaughnessy and Ian R. Mackenzie and Veronica Hirsch-Reinshagen and Robert Stowe and James P. Evans and Jonathan S. Berg and Jin Szatkiewicz and Richard C. Josiassen and Patrick F. Sullivan
DOI: 10.1176/appi.ajp.2017.17060638
05/2018

Improved strength on 5-hydroxytryptophan and carbidopa in spinal cord atrophy
Journal of the Neurological Sciences
Gabriella A. Horvath and Lorelyn Meisner and Kathryn Selby and Robert Stowe and Bruce Carleton
DOI: 10.1016/j.jns.2017.04.047
07/2017

Left hemispatial neglect
Casebook of Neuropsychiatry
2013

Psychosis and cognitive impairment in an adolescent
Casebook of Neuropsychiatry
2013

Dementia syndrome of depression
Casebook of Neuropsychiatry
2013

Secondary obsessive-compulsive disorder associated with pallidal lesions
Casebook of Neuropsychiatry
2013

Knife in the Head: German social realism meets Cinema Verité
Senses of Cinema [online journal]
2011

A case of persistent visual hallucinations of faces following LSD abuse: A functional Magnetic Resonance Imaging study
Neurocase
DOI: 10.1080/13554790903329141
03/2010

Serious neurological complications of valproate therapy
BC Mental Health & Addiction Services Psychopharmacology Newsletter
2007

Classification images of two right hemisphere patients: A window into the attentional mechanisms of spatial neglect
Brain Research
DOI: 10.1016/j.brainres.2006.01.033
03/2006

Neuropsichiatria I disturbi del comportamento tra neurologia e psichiatria
Masson
DOI: 10.1007/s10072-004-0359-4
12/2004

Funzioni neuropsicologiche ed esame dello stato mentale
Neuropsichiatria: I disturbi del comportamento tra neurologia e psichiatria, 2nd ed.
2004

Alterazioni della personalità associate a lesioni cerebrali
Neuropsichiatria: I disturbi del comportamento tra neurologia e psichiatria, 2nd ed.
2004

Neuropsichiatria dei disturbi psicotici
Neuropsichiatria: I disturbi del comportamento tra neurologia e psichiatria, 2nd ed
2004

Neuropsichiatria dei disturbi d’ansia
Neuropsichiatria: I disturbi del comportamento tra neurologia e psichiatria, 2nd ed.
2004

Neuropsichiatria dell’aggressività
Neuropsichiatria: I disturbi del comportamento tra neurologia e psichiatria, 2nd ed.
2004

Principi generali di valutazione e diagnosi Neuropsichiatria
Neuropsichiatria: I disturbi del comportamento tra neurologia e psichiatria, 2nd ed.
2004

Current concepts of the pathophysiology of catatonia
Canadian Psychiatric Association Bulletin
02/2002

Post-traumatic stress disorder
Encyclopedia of the Life Sciences
2002

Accuracy of four clinical diagnostic criteria for the diagnosis of neurodegenerative dementias
Neurology
DOI: 10.1212/wnl.53.6.1292
10/1999

Poststroke Depression and Anxiety: Different Assessment Methods Result in Variations in Incidence and Severity Estimates
Journal of Clinical and Experimental Neuropsychology
DOI: 10.1076/jcen.20.5.723.1117
10/1998

Psychosis as a presentation of physical disease in adolescence: a case of Niemann-Pick disease, type C.
Developmental medicine and child neurology
PubMed: 9489503
02/1998

I disturbi del comportamento tra neurologia e psichiatria: basi neurobiologiche e sindromi cliniche
Masson
1998

Assessment Methods in Behavioral Neurology and Neuropsychiatry
Neuropsychology
DOI: 10.1007/978-1-4899-1950-2_20
1998

Neuropsichiatria dei disturbi d'ansia
I disturbi del comportamento tra neurologia e psichiatria: basi neurobiologiche e sindromi cliniche
1998

Neuropsichiatria dell’aggressività
I disturbi del comportamento tra neurologia e psichiatria: basi neurobiologiche e sindromi cliniche
1998

Principi di valutazione dei disturbi neuropsicologici e neuropsichiatrici
I disturbi del comportamento tra neurologia e psichiatria: basi neurobiologiche e sindromi cliniche
1998

Phonological Dyslexia: Loss of a Reading-specific Component of the Cognitive Architecture?
Cognitive Neuropsychology
DOI: 10.1080/026432996381836
09/1996

Impulse control
Handbook of Aggressive and Destructive Behavior in Psychiatric Patients
DOI: 10.1007/978-1-4615-2403-8
1994

Tardive dyskinesia associated with use of metoclopramide in a child
The Journal of Pediatrics
DOI: 10.1016/s0022-3476(05)80357-9
12/1992

THE COMPORTMENTAL LEARNING DISABILITIES OF EARLY FRONTAL LOBE DAMAGE
Brain
DOI: 10.1093/brain/113.5.1383
1990

Syringomyelia
Current Therapy in Neurological Disease
1986

Research

MAGERS (Metabolic and Genetic Explorations in Refractory Schizophrenia)
The MAGERS (Metabolic and Genetic Explorations in Refractory Schizophrenia) study (Robert Stowe, P.I., Precilla Carrion, Co-Project Lead) is a multi-layered clinical. "-omics", and genetic counselling research project, recruiting inpatient participants from the tertiary provincial BC Psychosis Unit at UBC Hospital suffering from highly treatment-resistant schizophrenia or schizoaffective disorder. Detailed clinical phenotyping includes M.I.N.I psychiatric interviews and multidisciplinary consensus DSM-5 diagnosis, structured birth and childhood trauma histories, neurocognitive assessments, and neurological and dysmorphological examinations.

At entry, intensive biochemical screening for inborn errors of metabolism (IEMs) associated with psychosis are performed in the BCCH Biochemical Genetics Laboratory (Dr. Graham Sinclair) and in laboratories at three other hospitals, and chromosomal microarrays are performed in the Royal Colombian Hospital Cytogenetics Laboratory. Clinically actionable results of these procedures are returned to care providers, and to patient, families, and through psychiatric genetic counselling (the impact of which is also being assessed as a research outcome.

Whole blood, peripheral blood mononuclear cells, serum, plasma, and urine on participants are collected and stored under the direction of co-investigators at the BC Children's Hospital Research Institute, UBC campus, University of Victoria, and the University of Alberta, for batch small-molecule metabolomics, proteomics, immunophenotyping; and DNA and RNA extraction for whole genome and RNA sequencing. Analyses conducted and BCCHRI by MAGERS co-investigators include cytokine and inflammatory marker profiling (Dr. Clare Beasley); epigenetic analyses (whole genome methylation and GWAS chip genotyping, Dr. Michael Kobor); qPCR validation of small chromosomal variants (Dr. Colin Ross); and bioinformatics (Drs. Sara Mostafavi and Wyeth Wasserman).

A cross-validation approach, intensive phenotyping-genotype correlation, and novel bioinformatics tools will be employed for variant prioritization, with the aim of identifying potent genomic risk variants indexing key mechanistic derangements driving psychosis in affected individuals, and indexing tractable treatment targets (such as ion channels, neurotransmitter systems, and synaptic and dendritic function and plasticity, and major cellular and immunomodulatory pathways) that can be used to develop precision medicine for psychosis that fails to respond to existing treatment approaches.