Why is Genetics Important in Hearing?
The cochlea, a part of the inner ear, is a spiral shaped organ containing 30,000 sensory cells evolved to help us hear. Each cell, called a hair cell, has hundreds of thousands of working proteins that enable us to convert nanometer-scale movements into electric neural signals. The structures of these proteins are based on the script provided by our DNA, a copy of which is found in nearly every cell in our body. The entirety of an individual’s DNA is known as a genome, which can be thought of as an instruction set for the human body. Each line, known as a gene, is the basic unit of heredity. Some genes encode proteins. A change in our DNA can result in a protein that is unable to perform its typical role. As a result, these DNA changes, in thousands of different ways, can affect the ability to hear.
How do we know this?
Every year, thousands of children are born deaf or hard-of-hearing in the United States and Europe. Approximately 80% of congenital hearing loss in the United States and Europe is sensorineural hearing loss due to genetic causes. To date, more than 200 genes are known to be directly linked to hearing loss or deafness. By comparing genetic data between deaf and hearing family members, scientists have been able to learn the identity and location of these genes. By identifying these genes and understanding the functions of the proteins they encode, scientists can begin working to develop treatment options. One type of gene therapy aims to deliver a healthy piece of DNA to cells in the cochlea, enabling them to produce functional protein and restore hearing.
How can we get from here to a potential therapy?
To develop treatments for hearing loss and deafness, Akouos is bridging the scientific community’s growing understanding of hearing loss genetics with recent advances in gene therapy. First, we need to understand which genes are affected and how they impair hearing. Healthy copies of these genes can be encased in engineered viral vectors to enter relevant cells and enable them to produce functional proteins. We initiated a Phase 1/2 clinical trial of AK-OTOF for children with otoferlin gene OTOF-mediated hearing loss. For information about our clinical trial, please visit otofclinicaltrial.com or contact clinicaltrials@akouos.com.
What can I do to help?
Understanding whether hearing loss or deafness in a particular individual or family has a genetic basis may be important in identifying potential treatment options in the future.
We encourage everyone to be active in learning more about hearing loss or deafness and genetics. If you are interested in learning more about a possible genetic basis of hearing loss in your family, please speak with your physician about testing options.
Resonate by Akouos
Auditory Neuropathy Genetic Testing
A genetic diagnosis can lead to better insight to help guide medical management and decision-making, as well as determine potential eligibility for clinical studies or clinical trials. The Resonate™ Program provides genetic testing, and optional genetic counseling to review testing results, for eligible individuals of any age with a clinical diagnosis of auditory neuropathy, or a medical history consistent with auditory neuropathy, at no cost to the healthcare provider, participant, or participant’s insurance.