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Identification and Characterization of Genes Involved in Common Developmental Brain Diseases


Generating solutions




Competition III

Genome Centre(s)



Project Leader(s)

Fiscal Year Project Launched


Project Description

Schizophrenia and autism are severe brain diseases that result in enormous human suffering and high healthcare costs. Despite decades of research, the causes of these diseases are still largely unknown. However, both diseases are believed to be associated with genetic (inherited) factors, and can therefore be investigated using genomics.

Guy A. Rouleau, an authority on the genetic basis of human brain tumours, human neurodegenerative diseases and psychiatric illnesses at the University of Montreal, and Pierre Drapeau, Director of McGill’s Centre for Research in Neuroscience, are project leaders of Identification and Characteristics of Genes Involved in Common Developmental Brain Diseases. Drs. Rouleau and Drapeau believe that genes causing schizophrenia and autism carry a high rate of mutations, and tend to be located at synapses, which are junctions between nerve cells(and other cells) in the brain where information is communicated and processed. In other words, mutations in specific synapse genes may cause these diseases.

Drawing on a collection of 5000 blood samples collected from individuals affected by schizophrenia and autism (and their family members), the research team will analyze 1000 synpatic genes in 276 patients. This analysis will make it possible to perform the first direct chemical examination of the genes in humans coding for particular synapses, and subsequently to validate the biological effects of disease-related mutations of these synapse genes in different animal model systems.

The project team expects to identify 10 to 20 genes that directly cause or increase susceptibility to schizophrenia or autism. This in turn will open the way to development of new diagnostic tests, new treatments and improved clinical management for patients – which will be of benefit to health policymakers as well as the genetics and neurosciences research communities around the world.

Integrated GE3LS Research: Considerations of providing individual genetic research results to participants: An Ethical Analysis
GE3LS Project Leaders: Béatrice Godard and Béatrice Launay Université de Montréal
Genetics studies are becoming increasingly prevalent, leading to a growing body of information on disease susceptibility with the potential to improve health care. Much of these data are characterized as exploratory, with little or no clinical utility. However, there is an international trend for research participants to be permitted access to their personal data if they so choose. Stakeholders are consequently confronting the issue of whether and how research participants might receive their individual results. Yet, few empirical data exist on the attitudes and needs of research participants in the context of research on neurodevelopmental diseases.

This integrated GE3LS research study aims to conduct a benefit-to-risk assessment in order to balance the potential positive vs negative consequences to participants, while maintaining the integrity and feasibility of conducting genetic research studies. To do this, researchers will carry out a review and analysis of (inter)national guidelines, as well as an empirical study of the attitudes and needs of study participants. Findings of these analyses may help inform the development of an ethical framework to assist investigators in providing research participants with the results of neurogenetics studies.

We expect to find major challenges in this context, given both the high expectations surrounding genetic research and the vulnerable state of some patients/research participants. We also expect that healthcare costs will constitute an important contextual issue, especially in the context of public healthcare systems where issues of resource allocation figure prominently in the delivery of innovative care in neurodevelopmental diseases.