P.E.I. researcher looks at links between genetics and youth hearing loss

A researcher from P.E.I. is part of a team looking at youth hearing loss, and how it's connected to a gene mutation.

Montague, P.E.I., native Justin Pater, who studied biology at UPEI and is one year away from completing hisPhD at Memorial University in St. John's, said the mutation is rare but present globally, and more common in Newfoundland.

The researchers found children with the mutation can hear normally at birth and during their first hearing tests but lose their ability to pick up high-end sounds like a bird chirping when they turn three or four, leading to problems with speech development.

"Although this mutation has been identified in The Netherlands, Iceland and Denmark, this is the first time it has been shown to cause early onset hearing loss," said Patter in a news release from the university.

The team sequenced the genome, to find out what was unique to people with the mutation.

Research allows early intervention

"The power of Newfoundland is we have large family trees there," Pater told Island Morning. "We can observe how a mutation will segregate or travel in amongst a family. So, if all the affected people share this one mutation [and]they share the exact same clinical presentation, that's really powerful evidence suggesting that that's the mutation."

The painstaking process paid off after a year.

The researchers found the mutation is in a gene that is important for forming structures called tight junctions.

"These tight junctions allow cells in the inner ear to stick to one another a critical part of the ear being able to convey sound to your brain," he explained.

Now that they know more, speech language pathologists can work with children earlier, Pater said.

Plans to work in cancer research

He also said he's just getting started. He hopes to completea post-doctoral fellowship in Boston andwants to work incancer precision medicine.

"You can sequence someone's genome or their genome of their tumour and deliver a tailored treatment based on a genetic background," he said.

He'd like to focus at least half his research on melanoma, which is prevalent on P.E.I., he said.

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