Special Issue "Functional Otogenetics"
Deadline for manuscript submissions: closed (10 December 2022) | Viewed by 3879
Interests: sensorineural hearing loss; deafness; hereditary hearing impairment; genetic deafness; otogenetics; functional genetics; genotype-phenotype correlation studies; translational genetics; gene-therapy
Special Issues, Collections and Topics in MDPI journals
Interests: Deafness; Hearing Disorders; Hearing Loss; Genetics; Otology; Audiology; Cochlea; Audiometry; Otolaryngology; Inner ear
Interests: audiology; auditory diagnostics; cochlear implants; middle ear implants; hereditary hearing loss; tinnitus; neuroimaging
After the popularisation of clinical audiometry, otologists were able to separate different types of sensorineural hearing loss. This opened the door for linkage analyses in collaboration with genetic laboratories and many (though initially mostly dominant) traits were 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 that knowledge occurred. A handful of clinical scientists tried to bridge this gap by emphasising the importance of genotype phenotype correlations studies. These could become tools for clinicians for faster diagnosis and geneticists could be motivated to screen for clinical suspected diagnoses using their expensive laboratory tests.
Today, genetic analyses are readily available and so powerful that some would dare to perform otogenetic screenings prior to proper clinical evaluation of hearing thresholds. However, genetic analyses frequently find anomalies or variants which 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 along 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 on 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
Dr. Ronald J.E. Pennings
Dr. Cris Lanting
Guest Editor Assistant
Manuscript Submission Information
Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.
Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Genes is an international peer-reviewed open access monthly journal published by MDPI.
Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.
- Genetic deafness
- Hearing impairment
- Hereditary hearing loss
- Genetic analyses on sensorineural hearing loss