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mitoGenetics

Project Leader

Vanessa Goncalves, PhD
Project Scientist, Centre for Addiction and Mental Health, Toronto
 
Research Description
Vanessa Goncalves received her Ph. D. in Biochemistry and Immunology from Federal University of Minas Gerais (UFMG) in Brazil. She then moved to Toronto and completed a postdoctoral fellowship in the Molecular Brain Science Department, at the Centre for Addiction and Mental Health (CAMH; U of Toronto) where she is now a Project Scientist. Her research interests lie in advancing research on the role of mitochondrial gene variants in the risk for, and phenomenology of, neuropsychiatric disorders. Her research portfolio also includes pharmacogenetics studies focusing on the mitochondrial system. The multidisciplinary background of Dr. Goncalves in genetics, molecular biology, statistics, and epidemiology (through a federal training program) has fully equipped her to continue to make important discoveries. Her findings are vert translatable into important medical improvements, such as new biomarkers, reduced side effects/ medication failure, enhanced diagnostics, and better therapies for psychiatric patients. Recently, she was one of the leaders in forming an international team to analyze mitochondrial DNA variants across large international consortia.
 
 

Network Investigators

Jim Kennedy, MD, PhD
Centre for Addiction and Mental Health, Toronto
Professor at University of Toronto
Department of Psychiatry
Director, Molecular Brain Science Department
 
Research Description
Dr. Kennedy has training in three major areas: neuroscience, clinical psychiatry, and molecular genetics. His main research interest over the past 20 years has been the identification of susceptibility genes for psychiatric disorders. His discoveries include: 1) the role of the DRD4 gene in ADHD, 2) the DRD3 gene predicting risks for Tardive Dyskinesia, 3) the 5HTTLPR genetic marker predicts risk for antidepressant induced mania, 4) genetic panel for risk of antipsychotic induced weight gain, 5) gene panel for suicidality, 6) gene panel to predict antipsychotic response. Major current projects led by Dr. Kennedy include the IMPACT study examining a large sample (N=10000) of patients to discover new pharmacogenetic markers, and determine the usefulness and cost-benefit of genetic testing applied to choice and dosage of psychiatric medications in clinical care. He is leading a large randomized controlled clinical trial of pharmacogenomic tests in 1,200 depression and schizophrenia patients, funded by Genome Canada. He has published pioneering findings relating gene variants In the dopamine, serotonin, and neurodevelopment systems to psychiatric disorders, neuroimaging (PET and MRI) and to treatment response. Dr. Kennedy has published more than 650 peer-reviewed scientific articles with over 25,000 citations, and h-index of 83. He is a member of the Royal Society of Canada, the highest academic recognition in Canada. His current interests include integrating genetics, pharmacogenetics, brain imaging, and electrophysiology in to the design of clinical trials.
Dr. Julie St. Pierre, PhD
Department of Biochemistry, Microbiology and Immunology
Associate Professor
Ottawa Institute of Systems Biology
Tier 1 CRC in Cancer Metabolism
University of Ottawa, Ottawa, ON
‚Äč
Research Description
Dr. St. Pierre's research program is focused on metabolic adaptation in cancer progression. The goal of her research program is to identify alternative therapeutic strategies to target metastatic and treatment-resistant breast cancers that are associated with poor patient outcomes. In order to divide, breast cancer cells require energy to build all of the components necessary for making new cells. Dr. St-Pierre's research team has already made seminal discoveries on the importance of altered metabolism in supporting breast cancer growth and progression. They have shown that the PGC-1 family of transcriptional co-activators acts as a central regulator of breast cancer metabolism as well as tumor growth and metastasis. PGC-1alpha regulate numerous metabolic programs to fuel cancer progression, notably glucose and glutamine metabolism. In order to study cancer metabolism, the St-Pierre laboratory uses metabolomics approaches coupled with high-resolution bioenergetics analyses. Her long-term goals are to identify metabolic vulnerabilities of cancer cells in order to develop potential cancer metabolic therapies that could be used either alone or in combination with other anti-cancer drugs.
Dr. Cathy Barr, PhD
Senior Scientist, Krembil Research Institute (Krembil)
 
 
Research Description
Genetic studies of neuropsychiatric disorders, behaviour, specific cognitive processes, and learning and memory

The focus of my research is the genetic study of behaviour, specific aspects of cognition, and psychiatric and neurological disorders for which a genetic predisposition has been established, including attention-deficit hyperactivity disorder, childhood-onset anxiety disorders, childhood-onset depression, reading disabilities, and Tourette syndrome.

Numerous studies have implicated an imbalance in the neurotransmitter systems or neurological development for these disorders. We are able to test specific genes from these systems by screening these genes for DNA changes that may contribute to the genetic predisposition.

We have identified a number of genes contributing to these disorders and molecular studies are in progress to understand the relationship of DNA variation in these genes to the development of the disorder. For example, we identified two novel genes as associated to ADHD and reading disabilities respectively. Both of these genes were identified based on their location in regions linked to ADHD and reading disabilities. To date there is little or no information about the expression or biological function of these proteins. Our prediction is that both of these genes are involved in neuronal outgrowth and cell migration based on the presence of protein domains that have been shown to be involved in these processes. Through collaboration with Philippe Monnier, we are beginning the characterization of these two genes by examining the expression pattern during development using a chick embryo model, followed by functional tests of the role of these proteins in neuronal outgrowth/migration.
Bekim Sadikovic, PhD, DABMGG, FACMG
Associate Professor at Western University, Clinical Molecular Geneticist
 
Directing Clinical molecular Diagnostic Laboratory at the London Health Sciences Centre
Head of Molecular Genetics at London Health Sciences Centre (LHSC)
 
Research Description
Dr. Sadikovic's research interests concentrate around the study of genomic and epigenomic changes in complex (non-Mendelian) human disorders, particularly cancer. Changes in DNA sequence and copy number, in addition to, and in combination with, the environmentally-inducible changes in epigenetic profiles and gene regulatory mechanisms (ie: DNA methylation), disrupt gene expression networks resulting in disease phenotypes. Identification of such genomic and epigenomic biomarkers will allow us to understand the causes, assist with diagnosis and prognosis, and ultimately help in treatment and prevention of complex disorders. His research predominantly employs the whole-genome (both microarray and sequence-based) approaches and focuses on comparison of human subject and control tissue specimens.
 
His clinical interests are focused on utilization and implementation of these technologies in our routine clinical genetic diagnostic service, with the goal of increasing both genetic diagnostic yield and efficiency.