Imagine personalized medicine, where treatment is created specially for your own genetic makeup. Think of the possible eradication of certain diseases like cancer or AIDS, or of foods designed to protect us from disease. While the study of genetics is highly controversial, it could provide the solution to many issues facing modern society.
McGill neurologist Guy Rouleau specializes in identifying and cataloguing the genes associated with brain diseases. In a recent lecture at the University of Toronto, he described his current project, nicknamed Synapse to Disease, or S2D for short. This study deals primarily with schizophrenic and autistic patients in an attempt to identify the genetic components contributing to these diseases.
S2D is based on the hypothesis that brain diseases are caused by “de novo” mutations—gene expressions that have never previously occurred in the family. Rouleau postulates that these mutations prevent the synapse from functioning properly, resulting in neurodevelopmental diseases. The study collected DNA samples from patients with no family history of mental disease, low age of onset, and the availability of parental DNA. The expectation predicted that afflicted individuals would prove to have a gene that was not transmitted from their parents, but instead the result of a mutation.
Once the appropriate models were selected, the S2D team reduced the expression of the gene in order to obtain a physical expression of the sample in the form of a protein. They experimented using normal human genes to rescue the patient’s gene. If the protein continued to function improperly, they would try to rescue it with a mutated gene. If the second rescue was a success it was a sign that a mutation had taken place in the gene, thus contributing to the disease. Using these methods, Rouleau successfully identified and catalogued a number of genes associated with neurodevelopmental diseases.
Although the S2D program has yet to be completed, it is estimated that the results could be significant to the genomics field. After only two years, scientists have already identified 10 to 20 genes associated with schizophrenia and autism. Rouleau predicts that by the time the project has finished, his team will have identified 3.4 million genes, including 11 stop genes and between 34 and 126 de novo genes.
Rouleau hopes that diagnostics could be vastly improved due to the development of new technologies. The accuracy of diagnoses is essential, providing peace of mind to patients suffering from a known and definable disease—a reassuring thought when dealing with afflictions of the brain. Accurate diagnoses also ensure that the proper treatment is given and early intervention may be possible. It is also possible that treatment of particular diseases may be able to aid affiliated diseases that share essential brain mechanisms.
Genetics counselling would be affected, as many family members are interested in the risk of transmitting diseases to their offspring. Currently, these inquiries receive limited response due to technological constraints and insufficient professional assistance.
Rouleau’s research affects more individuals than just those suffering from autism or schizophrenia. The field of brain diseases includes epilepsy, bipolar disorder, and even migraines.
