According to a story from GlobeNewswire, a new partnership between the precision genetic medicine company Akouos, Inc. and and Blueprint Genetics has produced the Resonate program, which aims to improve access to genetic testing for auditory neuropathy for free to eligible patients. On a yearly basis, thousands of children worldwide are born with debilitating hearing loss, which can usually be traced to a genetic abnormality. However, only a small portion of this group ever learn what gene mutation has caused their hearing loss, primarily because of difficulties in getting tested.
About Auditory Neuropathy
Auditory neuropathy is a form of hearing loss in which the cochlea’s outer hair cells are present but do not function properly. The primary symptom is hearing loss, which ranges in severity; some patients can be entirely deaf. Auditory neuropathy can be acquired or can be the result of genetics; around 40 percent of cases are believed to have a genetic basis. Risk factors in newborns include jaundice, hyperbilirubinemia, low birth weight, hypoxia, and aminoglycoside antibiotic treatments. Dysfunction affects one of three areas: the auditory nerve, the inner cochlear hair cells, and the synapse between them. It can appear on its own but is also sometimes associated with other disorders such as Friedreich’s ataxia and Charcot-Marie-Tooth disease. The vast majority of patients suffer hearing deficiencies in situations where a lot of background noise is present. Treatment is limited; some patients utilize cochlear implants or other hearing aids, but not all seem to benefit. To learn more about auditory neuropathy, click here.
The Importance of Genetic Testing
With better access to testing, patients with this disorder will have a greater ability to make informed decisions and enhance the management of the condition. As therapies for auditory neuropathy and hearing loss in general are limited, identifying which genetic alterations are responsible in many cases could also be a significant step in the development of a new potential treatment. Around 230 genes have been linked to hearing loss.
The Resonate Program
Some of the genetic alterations linked to auditory neuropathy may not be detected on a standard test. Testing for these alterations requires a more in-depth assessment that includes copy number variants, difficult-to-sequence genes, deep intronic variants, and the mitochondrial genome. The Resonate program is currently available in the US, with plans to expand to other regions as 2021 progresses. Patients of all age can participate and they must have either a confirmed auditory neuropathy diagnosis or a medical history that is consistent with the disorder. Participants will also have access to free genetic counseling.
