A team of Canadian researchers has embarked on a four-year study of the genetic contributions to epilepsy to develop personalized approaches to diagnosing various types of seizure disorders early as well as discovering treatments for drug-resistant epilepsy.
Researchers involved with the Canadian Epilepsy Network (CENet) are sequencing genomes from 2,000 patients. CENet researchers are collaborating with U.S. scientists who are sequencing 4,000 patients’ genomes as part of the Epi4K project, and Europe’s EpiPGX initiative, which is sequencing 2,000 patients’ genomes.
Encoded in the DNA of every organism, genomes contain the entire heredity of a person’s genetic history. By using a process called next-generation sequencing, researchers will be able to examine genetic changes that predispose people to epilepsy and even predict a person’s response to anti-seizure medication.
“Looking forward, this study will (examine) how these genomic technologies will save money to the system and improve the care of patients,” Dr. Berge Minassian, one of CENet’s leaders, tells Voices of Epilepsy.
“At the end of the whole project, we are hoping to come up with a test . . . where anybody with epilepsy will have their genome sequenced and we will be able to predict what type of epilepsy they have; whether they have easy-to-treat epilepsy or hard-to-treat epilepsy.”
At the end of the project, as many as 10,000 epilepsy patients could have their genomes sequenced, which Minassian says would be a major step forward in epilepsy research.
“That’s a huge amount of information — it’s massive,” he says. “We will know everything we need to know about the genetic contributions to epilepsy. When it’s all said and done, it will have a major impact on epilepsy.”
Minassian underscores the importance of knowing a disease’s cause. Once the cause is understood, he says, researchers can start to learn about the mechanisms of the disease and why it occurs.
“(Knowing the cause of epilepsies) opens lots of entryways to treatment, because now you understand why one person’s brain is making seizures and another person’s brain is not,” he says.
“Finding the cause of a disease is like finding the Holy Grail.”
The other CENet research leaders are Dr. Patrick Cossette of the University of Montreal Hospital Research Centre and Dr. Jacques Michaud of Montreal’s Sainte-Justine University Hospital Research Centre.
Genome Canada and Génome Québec are the primary funders of the $10.8 million research project. UCB Canada Inc. recently contributed $200,000 to the research.
Writer: Deron Hamel
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