Removing the unknowns from "unknown cause epilepsy"

A team of researchers led by Matthew Farrer, Canada Excellence Research Chair in Neurogenetics and Translational Neuroscience at The University of British Columbia (UBC), has been awarded a grant from the Alva Foundation. Farrer is developing a strategy to identify genetic mutations causing epilepsy.

Working with the sophisticated sequencing technology in UBC’s Djavad Mowafaghian Centre for Brain Health, and using the team’s expertise in genetics and genome informatics, the team is analyzing portions of the genomes of children under age five with epilepsy of unknown cause. Genetic mutations identified can reveal biochemical abnormalities—and possible treatments.

“In genetic medicine, sometimes called “precision medicine” or “personalized medicine”, our goals are to promote rapid innovation and provide accurate, clinically meaningful results,” says Farrer, who is also the Dr. Donald Rix BC Leadership Chair in Genetic Medicine. “We perform the genome sequencing within a week, so, for some patients and families, our approach is much faster—and lower in heartache—than the current standard of care.”

Find out more about the grant and some of the early results in UBC Medicine magazine.