Genetic risk score may aid in early diagnosis and management of genetic hearing loss

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The absence of severe hearing loss indicates a healthy population and in some cases a disability. However existing approaches such as hearing loss intensity (HIEI) score are often not based upon objective measures such as eye movement tests or hearing loss patients ability to distinguish familiar and unfamiliar sounds. Now a Stanford University research team has demonstrated a new genetic risk factor for genetic hearing loss and developed a novel test to assess this genetic risk to a population.

The results published online in Nature Communications provide a new mechanism to assess the long-term consequences of genetic hearing loss which researchers say may also represent an important diagnostic tool.

Our study suggests there is a genetic risk factor thats associated with eye gaze variability and the ability to hear speech and that this is also associated with hearing loss and other hearing loss subtypes said Kirk Ertl the Joshua M. Cohen Professor of Electrical and Computer Engineering at Stanford. The ability to hear and discern speech including words spoken in the given pronunciation depends upon the ability to not only perceive the words but focus the eyes during the same pitch.

For those who are missing this genetic marker their eye gaze variability was already at low levels and they were unable to hear any speech which remains significant even if they hear it from a speaker they recognise said lead author Aaron Reinhart a graduate student in the Undergraduate Neuroscience Program in the School of Engineering Biology and the papers first author. This indicates that genetic hearing loss does not occur automatically but requires a gene mutation in the inner ear as well as a human trait called hearing loss adaptability to voice or speech.

Cognitive control or cognitive flexibility is a system that occurs naturally in various higher vertebrate animals and is required for successful speech and auditory perception. This vocal control could be affected by genetic hearing loss. We believe this finding contributes to understanding how hearing loss develops and for future therapeutic applications including patients with genetic hearing loss said Kevin Verttin who heads the Stanford team which includes Ertl as well as colleagues from Northwestern University (Chicago and Stanford study participants).

We are now working with a group of hearing specialists from Ann Robert H. Lurie Childrens Hospital and Stanford University School of Medicine to test their genetic hearing loss marker scores says Schleifer who is leading the project along with the Stanford dental hearing specialists. These test are replicated off-site in our hearing aids at the Samuel K. Tildesley Jr. Hearing Research Center at Lurie Childrens with our patients who are hearing aid donors and we test them twice.