Founder population genetics research in Newfoundland

Most of the people in Newfoundland province can link their family history back to England and Ireland. The population can mostly trace their heritage back to European settlement on the island in the 17th and 18th centuries. Unlike many other places, there haven’t been many new arrivals since.

This provides the researchers the opportunity to research hearing loss in a group of people with fewer genetic variants. In addition, the families on the island are traditionally large, meaning that many people have a similar genetic make-up, providing researchers the chance to study whether a particular gene mutation is responsible for hearing loss.

“Some of our families actually had 23 and 24 brothers and sisters,” Terry-Lynn Young, professor of genetics, told CBC. “With that number of brothers and sisters, the patterns become very clear, fairly quickly.”

The Genomics-Based R&D Centre for Health is working with three big families from the area as part of a proof of concept study. The genomes of the members of these families have been sequenced, and each member has had an in-depth hearing test. The team is aiming to identify any mutation in family members with hearing loss that is not present in members who have normal hearing. This approach helps families learn more about their genome and their hearing, so that they can proactively manage any support that may be needed.

Source: CBC