$10.8M funding for new tests for drug-resistant epilepsy

Montreal, QC – A team led by Dr. Patrick Cossette at the University of Montreal Hospital Research Centre (CRCHUM) has been awarded $10.8 million from Genome Quebec and Genome Canada to conduct a four-year study to develop a personalized medicine approach to early diagnosis of various types of epilepsy. Along with the project’s co-leaders, Dr. Jacques Michaud, CHU Sainte-Justine Research Centre, and Dr. Berge Minassian, Hospital for Sick Children in Toronto, the team will focus specifically on drug-resistant forms of epilepsy.

Approximately 3% of Canadians experience epileptic seizures during their lifetime. Each seizure increases the risk of brain damage, especially in childhood. Although there are over 20 different anti-epileptic drugs available today, these drugs are ineffective in about one third of patients. “Epilepsy is particularly problematic in children since uncontrolled seizures in the developing brain largely contribute to cognitive decline,” explains Dr. Cossette. However, managing epilepsy associated with intellectual disability is especially challenging since these symptoms are associated with a high rate of resistance to anti-epileptic drugs.

“Our challenge is to rapidly identify patients who will not benefit from currently existing drugs so that we can use alternative therapies before the damage caused by epilepsy becomes irreversible. Unfortunately, the current state of knowledge puts this goal out of reach,” notes Dr. Cossette.

Given that susceptibility to epilepsy can be inherited, Dr. Cossette’s team will devote itself to identifying genetic changes that not only predispose people to epilepsy but also, and more specifically, the changes that predict the response to various anti-epileptic drugs. This will be accomplished by determining the genetic sequence of all genes in epileptic individuals with different range of response to anti-epileptic drugs.

The team’s discoveries will be used to develop new diagnostic assays and clinical guidelines to help neurologists and general practitioners to determine which of their patients would benefit most from alternative therapies such as brain surgery.

Ultimately, the goal of the project is to foster the development of rational and tailored guidelines for personalized treatment of drug-resistant epilepsy. Early diagnosis of this form of epilepsy will constitute a major advance in preventing brain damage and cognitive impairment in children.