Human Auditory Phenotyping and Genetics Lab

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Human Auditory Phenotyping and Genetics

Human Auditory Phenotyping and Genetics Lab

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About the Lab

Lab Director

In humans almost 100 genes and thousands of variants are known to influence hearing and cause disorders that disrupt auditory system structure and function. Studies in the Human Auditory Phenotyping & Genetics Laboratory focus on defining human auditory phenotypes, and through multidisciplinary collaborations examine how an individual’s hearing ability and auditory system function are influenced by their underlying molecular genotype.

The lab utilizes behavioural and physiological measures to create a detailed auditory profile, or phenotype, in individuals with and without hearing impairment, and in individuals and families from Newfoundland and Ontario who experience problems hearing. The integrity of the human auditory system is explored using behavioural hearing tests like the pure tone audiogram and speech recognition in quiet and noise, and by recording physiological measures of middle ear, inner ear and auditory brain function; this comprehensive battery includes wideband acoustic immitance, otoacoustic emissions, and auditory evoked potentials. Studies compare these detailed measures of auditory function in healthy volunteers and extended families, in order to better understand normal function and subtle changes in auditory function that are not detected by a standard audiogram.

In collaboration with a molecular genetics team led by Dr. Terry-Lynn Young (Memorial), this deep phenotype information is compared to molecular genetic test results. Ongoing research studies have contributed to the discovery of new genes, and to the characterization of auditory manifestations of causative gene mutations that cause otosclerosis and nonsyndromic sensorineural hearing loss. Results of this research provide insight into the molecular foundations of inherited hearing ability, and will contribute to the development of new interventions for disorders that affect the auditory system.
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