A Prince Edward Island-based research team, led by P.E.I. native Justin Pater, has uncovered an important clue in the rapidly expanding field of genetic hearing loss. Pater and his team have, through exhaustive research, confirmed a link between a unique gene mutation and hearing loss in children, a discovery which has the potential to increase early intervention and prevent problems with speech development for children with hearing loss.
Early childhood hearing loss can have severe effects on a child’s mental, social and educational development, so this announcement has caused excitement among audiologists and other hearing care specialists. According to Pater, the genetic mutation is rare but exists in various countries across the globe, with the condition being more prevalent in Newfoundland.
Justin Pater was a student of biology at the University of Prince Edward Island and is currently a year away from completing his PhD at Memorial University in St. John’s. In a news release from the university, Pater said that despite the fact that this gene has been identified in The Netherlands, Iceland and Denmark, this is the first time a proven link has been found between the gene, known as CLDN14, and early onset hearing loss.
The gene mutation appears to be more common among children in Newfoundland than elsewhere, occurring in just over one percent of the population, though it has been detected in other countries as well.
Children born with CLDN14 mutation can hear normally at birth and pass their newborn hearing screenings, but lose their ability to hear higher frequencies, such as the chirping of a bird, around the age of three or four. The gene plays an essential role in hearing: it helps to maintain the structures of the inner ear by creating “tight junctions” which allow cells to stick together and effectively transmit sound signals to the brain. When this gene mutates, the ability to hear in the middle and high frequencies is often profoundly disrupted, although low frequencies are not affected.
Ages three and four are critical for a child’s acquisition of language, and the loss of certain frequencies at this stage can lead to serious speech-language problems and developmental delays. The research team hopes that their findings will be useful in a clinical setting for detecting early hearing loss, and identifying and helping at-risk children.
Pater and his partners, based at the Craig L. Dobbin Genetics Research Centre at Memorial, sequenced the genome to determine how it was unique in people with the mutation.
Pater thanked Newfoundland’s large family trees for helping him observe how a mutation can separate or travel within family lines. After a year of tireless research the team was able to present powerful evidence that the mutation causes early onset hearing loss. Their findings were recently published in the academic journal Human Genetics, a major accomplishment for Pater and his colleagues. Pater believes that their discovery will help speech language pathologists and health-care professionals to intervene in cases of hearing loss earlier and more effectively.
“I am proud to be a part of a larger team that came together to discover this mutation,” Pater said. “Approximately 10 per cent of Canadian adults are affected by hearing loss and 50 per cent of these cases are caused by genetic mutations. It is these overwhelming statistics that drew me into hearing loss research. Not only can these discoveries have a big impact right here in Newfoundland and Labrador, but so, too, can they be extended to the national and international level.”
So what’s next for Justin Pater? The researcher said that after finishing his PhD, he would like to pursue a post-doctoral fellowship in Boston. He hopes to focus on cancer genetics, and believes that gene sequencing could help doctors to deliver tailored treatment for many different types of cancers and personalized medicine, while continuing to research one of the world’s most common conditions: hearing loss.
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