By Kathleen Arnos
This article is a part of the July/August 2018, Volume 30, Number 4, Audiology Today issue.
The Academy Research Conference (ARC) 2018 provided an overview of progress in the field of genetics and hearing loss from both research and clinical perspectives. As chair of ARC 2018, I was joined by several knowledgeable individuals on the organizing committee, including Dr. Zarin Mehta from A.T. Sill University, Dr. Wendy Hanks from Pacific University, and Dr. Jonathan Whitton from Decibel Therapeutics. My thanks to them for their expert guidance. I would also like to thank Jennifer Shinn, University of Kentucky, as well as Joan Haller, director of meetings with the Academy and Heather Finney, meetings manager with the Academy, all of whom were instrumental in organizing this conference.
The organizing committee chose speakers who were exceptionally qualified to address recent developments in gene discovery, testing, and therapeutics, based on their clinical and research expertise. The technological advances in the field of genetics and hearing loss over the past 35 years has been nothing short of amazing.
In the 1980s, the tools of the trade for evaluating a genetic cause of hearing loss in a client consisted almost entirely of pedigree analysis and physical examinations looking for features that indicated a syndromic cause of hearing loss. This approach allowed geneticists to sometimes identify a specific syndrome, and sometimes identify nonsyndromic hearing loss inherited in a specific pattern. At that time, however, the molecular tools to identify causative genes did not exist.
Beginning in the 1990s, significant progress was made in mapping and cloning of genes related to hearing loss, including the discovery in 1997 of a major contributor to genetic hearing loss, the GJB2 gene (Connexin 26). Since that time, progress in identifying genes related to hearing loss has been explosive and has expanded to include not only single genes inherited in Mendelian patterns that are common causes of congenital and early-onset hearing loss, but genes that contribute to multifactorial conditions such balance disorders, and noise-induced or age-related hearing loss.
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