41st Annual Midwinter Meeting of the Association for Research in Otolaryngology

The symposium was devoted to the issue of commercialisation of scientific research. Particular attention was paid to the need for the development of audiological diagnostic tests that will be applied in clinical research involving novel medications and devices, as well as sensitive, specific and high-throughput laboratory tests for the purposes of identification of little outcomes.

During the conference dr hab. Monika Ołdak from the Institute of Physiology and Pathology of Hearing presented two papers entitled: “Application of next-generation sequencing to identify mitochondrial mutations: report on m.7511T>C in hearing loss patients” and “Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss”.

In the course of the sessions addressing the issue of the development of the hearing organ, great emphasis was placed on the Hippo/YAP signalling pathway which plays the role of a regulator of gene transcription and is involved in the process of progenitor cell growth and proliferation as well as in the cell cycle exit during inner ear development. Better insight into the mechanisms of development of the inner ear cells and their inability to regenerate is indispensable in order to establish new therapeutic strategies for patients with impaired hearing and balance. One of the sessions was entirely devoted to the problem of SOX-2 protein whose activity is critical for the development of the sensory cells of the inner ear.

The sessions focused on the molecular mechanisms underlying hearing loss featured presentations of the publicly accessible database of genetic variations identified in hearing loss patients (http://deafnessvariationdatabase.org/). The use of data contained in the database in question is extremely helpful in the correct interpretation of genetic variations detected in patients, that is in determination of whether they are pathogenic and caused by the development of hearing loss, or whether they do not affect the pathogenesis of this disorder. What is more, attention was paid to the significant role of copy number variations in hearing loss development. The authors also delivered presentations of a great number of new genes affecting the pathogenesis of hearing loss. A large group of genes that were initially considered as connected with age-related hearing loss were subject to a trial involving a mouse model. None of the studied genes caused hearing loss in mice. Furthermore, results showing a statistically significant difference in the occurrence of specific variants in TGFB1, RELN and ACAN genes in otosclerotic patients were also displayed.

This year’s distinguished service award was granted to prof. Christine Petit in recognition of her pioneering studies on the genetic basis of hearing loss and other sensorineural deficits in humans. The researcher placed emphasis on the fact that the proteins which take part in the hearing process are active in the peripheral and central elements of the auditory system.