Advances in Hereditary Hearing Loss—Genetics, Diagnosis, and Options of Treatment

Dear Colleagues,

Precise molecular diagnosis is very important for determining the genetic basis of hearing loss, predicting patient prognosis, and choosing appropriate treatment strategies. Nevertheless, establishing a genetic diagnosis of HL in patients can be challenging due to the high degree of heterogeneity and phenotypic variability associated with this condition.

Whole-exome sequencing (WES) has been applied to the genetic diagnosis of patients with hearing loss. WES focuses primarily on the exome, which is only a small fraction, around 1–2%, of the whole genome. Many approaches to searching for the genetic causes of hearing impairment have been conducted using WES and targeted exome sequencing in various ethnic groups.

In recent years, whole-genome sequencing (WGS) has emerged as a powerful tool for genetic analysis. Indeed, WGS is considered an initial test for suspected Mendelian conditions and is also appropriate when no candidate variants are detected by WES17. In contrast to WES, WGS covers the entire genome, offering a more thorough perspective of the genetic landscape. This broader coverage of the genome enables the detection of variants in cis-regulatory regions, deep-intronic splicing alterations, mitochondrial DNA (mtDNA) variants, and structural variants, which are increasingly recognized as critical contributors to gene expression and disease pathogenesis.

There is no cure for hearing loss yet. But emerging frontier technologies like gene, drug or cell-based therapies may work toward potentially effective cures, as they provide a therapeutic approach for both adults and teens. In this Special Issue, we highlight ongoing and future therapeutic advancements for treating hearing loss.

This publication aims to present recent data and findings regarding the genetic etiology and treatment of hereditary hearing disorders.

Dr. Pavlos Pavlidis
Guest Editor

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