Also defined as genetic hearing loss, is a subarea of human genetics focused in genetic etiology of hearing loss situations. It studies genes, mutations and non-functional proteins responsible for some loss of hearing. Gene mutations can cause hearing loss in several ways. Genetic factors make some people more susceptible to hearing loss than others. Age-related hearing loss is accepted to have also a genetic background. Nowadays, this area is also focused in molecular genetic rehabilitation of ciliated cells in order to restore some kind of sensorineural deafness. Hereditary deafness distinguish between syndromic and non-syndromic forms, being the last ones the most common ones. Is also possible to distinguish between autossomic cases, where the mutations and genes related are in chromosomes 1 to 22; cases related to X or Y chromosome or even associated to mitochondrial genome. The genetic of the autossomic cases can be dominant or recessive, where the genes or mutations associated can be inherited just from one or by both parents, respectively.
Published in Chapter:
Changes of Communication in Biomedical Sciences and Health: “Dr Google” and Hearing Loss
Helena Caria (School of Health, Polytechnic Institute of Setúbal, Portugal)
Copyright: © 2023
|Pages: 19
DOI: 10.4018/978-1-6684-9039-6.ch002
Abstract
Scientific and technological developments are unquestionable, being health in general and human genetics specifically, domains where high throughputs are gorgeous. The internet is changing the behavior of patients with clinicians and health organizations. The project of human genomes ensured new approaches to estimate cause-disease relations. Genotype-phenotype correlations and screening of mutation are now available to all researchers. However, the scientific data are also available to the patients, bringing them to the floor as active partners in therapeutic processes searching with ”Dr. Google” for symptoms, treatments, and cures. Hereditary deafness is not escaping from this civil movement, being a good example of the behavioral change associated with the explosion of the internet, with the commercial offers of hearing aids and cochlear implants offers to be common nowadays. In the chapter, the authors discuss the internet of behaviors in the context of biomedical sciences as human genetics, and hearing loss.