Advances in Functional Otogenetics

Dear Colleagues,

Since the popularisation of clinical audiometry, otologists have been able to separate different types of sensorineural hearing loss. This has opened the door for linkage analyses in collaboration with genetic laboratories, and many (though initially mostly dominant) traits have been identified with Sanger sequencing. Genetic analyses became more efficient and more available (cheaper) with the development of population genetics, gene panels, next-genome screening and eventually whole-genome sequencing. Progressively, a gap between scientific knowledge on genetic deafness and the clinical application of this knowledge has occurred. A handful of clinical scientists have tried to bridge this gap by emphasizing the importance of genotype–phenotype correlation studies. These could become tools for clinicians for faster diagnosis and geneticists could be motivated to screen for suspected clinical diagnoses using their expensive laboratory tests.

Today, genetic analyses are readily available and so powerful that some would even perform otogenetic screenings prior to proper clinical evaluation of hearing thresholds. However, genetic analyses frequently find anomalies or variants that are difficult to classify as pathogenic or not. For the clinical otologist caring for patients with sensorineural hearing loss on a daily basis, it is not possible to keep up with all new findings in the genetics of otology—let alone the new laboratory techniques to screen genes. Even a clinical therapeutic modality, such gene therapy for hereditary hearing loss, is not easy for a mainly clinically occupied otologist to grasp.

Translational studies concerning genetic knowledge implemented in daily practice are welcomed. We also hope to address the following questions: What do genes tell clinicians about how or when to operate or not to operate? Should clinicians anticipate the presence of gene therapy in the near future? All topics that are functional for clinicians and tackle genetics and otology are welcome for this issue on functional otogenetics.

Dr. Vedat Topsakal
Guest Editor

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• otogenetics
• genetic deafness
• hearing impairment
• hereditary hearing loss
• genetic analyses on sensorineural hearing loss