A review of a memoir by Abigail Heringer, the first deaf contestant on “The Bachelor”
Surviving Usher Syndrome
Key Findings and Next Steps
Where do we want our hair cell regeneration research to be in three years’ time, and what will it take to get us there?
Empowering Others Through My Journey With Pendred Syndrome
I am 16 years old and live in California. I was born with Pendred syndrome, which is why I have severe to profound, bilateral hearing loss and wear hearing aids.
A Cell Type–Specific Approach to Detail the Role of a Small Molecule in Hair Cells
Interestingly, some of the genes that were more active in the variant hair cells are typically more active in the supporting cells than in the hair cells. It could be that when miR-96 is a variant, some genes more specific to supporting cells, and which are typically kept turned off in hair cells, incorrectly become activated in hair cells.
Hyperacusis Research Presentation at ARO
At the 2024 Association for Research in Otolaryngology (ARO) MidWinter Meeting, held in early February in Anaheim, California, our partner Hyperacusis Research hosted a dinner where several researchers presented their latest findings.
Hope for Treatments Against Hearing Loss as 10 New Genes Identified
Researchers argue that the stria vascularis, a part of the cochlea in the ear, is a new target for treatments to help people with hearing loss.
18 Years Later
Our twins, James and Riley, were born on August 23. They did not pass this initial hearing screen, so auditory brainstem response (ABR) tests were administered in the hospital. Two weeks after a second ABR with our audiologist, they were both diagnosed with moderate bilateral sensorineural hearing loss.
Family Ties
My own difficulty hearing came on so gradually it was hard to notice. But I do remember vividly the day I realized the difference between my left and right ears. I was then a parent of three young children, living in Bayonne in a two-family house with my mother.
New Insights into the Development of the Hair Cell Bundle
By Yishane Lee
Recent genetic studies have identified that the protein Ripor2 (formerly known as Fam65b) is an important molecule for hearing. It localizes to the stereocilia of auditory hair cells and causes deafness when mutations disrupt its function.
In a study published in the Journal of Molecular Medicine in November 2018, Oscar Diaz-Horta, Ph.D., a 2017 Emerging Research Grants (ERG) scientist, and colleagues further show the role the protein plays by demonstrating how it interacts with other proteins during the development of the hair cell bundle. The team found that the absence of Ripor2 changes the orientation of the hair cell bundle, which in turn affects hearing ability.
Ripor2 interacts with Myh9, a protein encoded by a known deafness gene, and Myh9 is expressed in the hair cell bundle stereocilia as well as its kinocilia (apices). The team found that the absence of Ripor2 means that Myh9 is low in abundance. In the study, Ripor2-deficient mice developed hair cell bundles with atypically localized kinocilia and reduced abundance of a phosphorylated form of Myh9. (Phosphorylation is a cellular process critical for protein function.)
Another specific kinociliary protein, acetylated alpha tubulin, helps stabilize cell structures. The researchers found it is also reduced in the absence of Ripor2.
The study concludes that Ripor2 deficiency affects the abundance and/or role of proteins in stereocilia and kinocilia, which negatively affects the structure and function of the auditory hair cell bundle. These newly detailed molecular aspects of hearing will help to better understand how, when these molecular actions are disrupted, hearing loss occurs.
A 2017 ERG scientist funded by the Children’s Hearing Institute (CHI), Oscar Diaz-Horta, Ph.D., was an assistant scientist in the department of human genetics at the University of Miami. He passed away suddenly in August 2018, while this paper was in production. HHF and CHI both send our deepest condolences to Diaz-Horta’s family and colleagues.
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