{"id":21566,"date":"2026-07-06T14:36:18","date_gmt":"2026-07-06T12:36:18","guid":{"rendered":"https:\/\/www.gvperte.it\/scoperta-a-venezia-una-nuova-causa-genetica-della-sordita\/"},"modified":"2026-09-16T16:50:18","modified_gmt":"2026-09-16T14:50:18","slug":"scoperta-a-venezia-una-nuova-causa-genetica-della-sordita","status":"publish","type":"post","link":"https:\/\/www.gvperte.it\/en\/scoperta-a-venezia-una-nuova-causa-genetica-della-sordita\/","title":{"rendered":"New Genetic Cause of Deafness Discovered in Venice"},"content":{"rendered":"","protected":false},"excerpt":{"rendered":"<p>He was only a few years old when the noise around him began to fade. His mother and father, who had perfect hearing, took him to the Center of Excellence in Audiology at the Ospedale Civile in Venice, hundreds of kilometers from home. There, the child became a patient of Dr. <strong>Rosamaria Santarelli<\/strong>, a professor at the University of Padua and a nationally recognized specialist in childhood deafness, who diagnosed him with<strong>bilateral sensorineural hearing loss<\/strong>. A decade later, observing the patient\u2019s clinical progression, Dr. Santarelli herself suspected that there might be a specific genetic cause behind that hearing loss. The professor entrusted the genetic material of the patient\u2019s entire family to the test tubes <strong>of the Genetics and Cytogenetics Laboratory at the Ospedale dell\u2019Angelo in Mestre<\/strong>, another center of excellence led by Chief of Staff Mos\u00e8 Favarato. There, the team analyzed 115 genes involved in the boy\u2019s auditory perception and investigated the same number of genes in his closest relatives to study the possible hereditary transmission of the condition. <strong>This led to a study that has entered the international scientific literature<\/strong>: the discovery, published in JALM (The Journal of Applied Laboratory Medicine) under the title \u201cIsoform-Specific TRIOBP Truncating Variants in Deafness, Autosomal Recessive 28: A Case Study of Postlingual Moderate Sensorineural Hearing Loss, is authored not only by Chief Physicians Favarato and Santarelli but also by geneticists Dario Degiorgio, Eliana Greco, Marianna Beggio, Edoardo Peroni, and Giulia Favretto, as well as otoneurologists Erennio Natale, Cristina Gondiu, Elona Cama, and Pietro Scimemi.        <\/p>\n","protected":false},"author":422,"featured_media":21493,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"give_campaign_id":0,"footnotes":""},"categories":[2007],"tags":[3106,3104,3102,3105,3103],"class_list":["post-21566","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-green-salus","tag-bilateral-sensorineural-hearing-loss","tag-deafness","tag-diagnosi","tag-hearing-loss","tag-rosamariasantarelli"],"acf":{"categoria":[2007],"categoria_source":{"label":"Category","type":"taxonomy","formatted_value":[{"term_id":2007,"name":"Green\/Salus","slug":"green-salus","term_group":0,"term_taxonomy_id":2007,"taxonomy":"category","description":"","parent":0,"count":30,"filter":"raw"}]},"sottotitolo_h2":"A study by ULSS 3 Serenissima has identified a new genetic cause of deafness, improving diagnosis, prognosis, and family counseling.","sottotitolo_h2_source":{"label":"Subtitle","type":"text","formatted_value":"A study by ULSS 3 Serenissima has identified a new genetic cause of deafness, improving diagnosis, prognosis, and family counseling."},"immagini_principale":{"ID":21493,"id":21493,"title":"laboratorio audiologia venezia1","filename":"laboratorio-audiologia-venezia1-compress.jpg","filesize":266786,"url":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia1-compress.jpg","link":"https:\/\/www.gvperte.it\/en\/scoperta-a-venezia-una-nuova-causa-genetica-della-sordita\/laboratorio-audiologia-venezia1-2\/","alt":"","author":"110","description":"","caption":"","name":"laboratorio-audiologia-venezia1-2","status":"inherit","uploaded_to":21566,"date":"2026-07-06 10:14:07","modified":"2026-09-02 08:50:41","menu_order":0,"mime_type":"image\/jpeg","type":"image","subtype":"jpeg","icon":"https:\/\/www.gvperte.it\/wp-includes\/images\/media\/default.png","width":1600,"height":1200,"sizes":{"thumbnail":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia1-150x150.jpg","thumbnail-width":150,"thumbnail-height":150,"medium":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia1-300x225.jpg","medium-width":300,"medium-height":225,"medium_large":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia1-768x576.jpg","medium_large-width":768,"medium_large-height":576,"large":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia1-1067x800.jpg","large-width":800,"large-height":600,"1536x1536":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia1-1536x1152.jpg","1536x1536-width":1536,"1536x1536-height":1152,"2048x2048":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia1-compress.jpg","2048x2048-width":1600,"2048x2048-height":1200,"mailpoet_newsletter_max":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia1-1320x990.jpg","mailpoet_newsletter_max-width":1320,"mailpoet_newsletter_max-height":990}},"immagini_principale_source":{"label":"Main images","type":"image","formatted_value":{"ID":21493,"id":21493,"title":"laboratorio audiologia venezia1","filename":"laboratorio-audiologia-venezia1-compress.jpg","filesize":266786,"url":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia1-compress.jpg","link":"https:\/\/www.gvperte.it\/en\/scoperta-a-venezia-una-nuova-causa-genetica-della-sordita\/laboratorio-audiologia-venezia1-2\/","alt":"","author":"110","description":"","caption":"","name":"laboratorio-audiologia-venezia1-2","status":"inherit","uploaded_to":21566,"date":"2026-07-06 10:14:07","modified":"2026-09-02 08:50:41","menu_order":0,"mime_type":"image\/jpeg","type":"image","subtype":"jpeg","icon":"https:\/\/www.gvperte.it\/wp-includes\/images\/media\/default.png","width":1600,"height":1200,"sizes":{"thumbnail":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia1-150x150.jpg","thumbnail-width":150,"thumbnail-height":150,"medium":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia1-300x225.jpg","medium-width":300,"medium-height":225,"medium_large":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia1-768x576.jpg","medium_large-width":768,"medium_large-height":576,"large":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia1-1067x800.jpg","large-width":800,"large-height":600,"1536x1536":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia1-1536x1152.jpg","1536x1536-width":1536,"1536x1536-height":1152,"2048x2048":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia1-compress.jpg","2048x2048-width":1600,"2048x2048-height":1200,"mailpoet_newsletter_max":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia1-1320x990.jpg","mailpoet_newsletter_max-width":1320,"mailpoet_newsletter_max-height":990}}},"introduzione":"He was only a few years old when the noise around him began to fade. His mother and father, who had perfect hearing, took him to the Center of Excellence in Audiology at the Ospedale Civile in Venice, hundreds of kilometers from home. There, the child became a patient of Dr. <strong>Rosamaria Santarelli<\/strong>, a professor at the University of Padua and a nationally recognized specialist in childhood deafness, who diagnosed him with<strong>bilateral sensorineural hearing loss<\/strong>. A decade later, observing the patient\u2019s clinical progression, Dr. Santarelli herself suspected that there might be a specific genetic cause behind that hearing loss. The professor entrusted the genetic material of the patient\u2019s entire family to the test tubes <strong>of the Genetics and Cytogenetics Laboratory at the Ospedale dell\u2019Angelo in Mestre<\/strong>, another center of excellence led by Chief of Staff Mos\u00e8 Favarato. There, the team analyzed 115 genes involved in the boy\u2019s auditory perception and investigated the same number of genes in his closest relatives to study the possible hereditary transmission of the condition. <strong>This led to a study that has entered the international scientific literature<\/strong>: the discovery, published in JALM (The Journal of Applied Laboratory Medicine) under the title \u201cIsoform-Specific TRIOBP Truncating Variants in Deafness, Autosomal Recessive 28: A Case Study of Postlingual Moderate Sensorineural Hearing Loss, is authored not only by Chief Physicians Favarato and Santarelli but also by geneticists Dario Degiorgio, Eliana Greco, Marianna Beggio, Edoardo Peroni, and Giulia Favretto, as well as otoneurologists Erennio Natale, Cristina Gondiu, Elona Cama, and Pietro Scimemi.        ","introduzione_source":{"label":"Introduction","type":"wysiwyg","formatted_value":"<p>He was only a few years old when the noise around him began to fade. His mother and father, who had perfect hearing, took him to the Center of Excellence in Audiology at the Ospedale Civile in Venice, hundreds of kilometers from home. There, the child became a patient of Dr. <strong>Rosamaria Santarelli<\/strong>, a professor at the University of Padua and a nationally recognized specialist in childhood deafness, who diagnosed him with<strong>bilateral sensorineural hearing loss<\/strong>. A decade later, observing the patient\u2019s clinical progression, Dr. Santarelli herself suspected that there might be a specific genetic cause behind that hearing loss. The professor entrusted the genetic material of the patient\u2019s entire family to the test tubes <strong>of the Genetics and Cytogenetics Laboratory at the Ospedale dell\u2019Angelo in Mestre<\/strong>, another center of excellence led by Chief of Staff Mos\u00e8 Favarato. There, the team analyzed 115 genes involved in the boy\u2019s auditory perception and investigated the same number of genes in his closest relatives to study the possible hereditary transmission of the condition. <strong>This led to a study that has entered the international scientific literature<\/strong>: the discovery, published in JALM (The Journal of Applied Laboratory Medicine) under the title \u201cIsoform-Specific TRIOBP Truncating Variants in Deafness, Autosomal Recessive 28: A Case Study of Postlingual Moderate Sensorineural Hearing Loss, is authored not only by Chief Physicians Favarato and Santarelli but also by geneticists Dario Degiorgio, Eliana Greco, Marianna Beggio, Edoardo Peroni, and Giulia Favretto, as well as otoneurologists Erennio Natale, Cristina Gondiu, Elona Cama, and Pietro Scimemi.        <\/p>\n"},"paragrafi_articolo":[{"titolo_paragrafo":"From Clinical Suspicion to Sequencing","testo_paragrafo":"The case illustrates how a diagnosis that had remained unresolved can be resolved years later, thanks to advances in sequencing technologies and the ability to integrate clinical observation, family history, and molecular analysis: \u201cThis discovery is part of the collaboration we recently established between our Audiology unit and the Genetics and Cytogenetics unit in Mestre,\u201d explains Santarelli, noting that the work arose from a very concrete clinical need: to arrive at an accurate diagnosis of hearing loss. According to the specialist, in fact, <strong>at least 70% of childhood hearing loss has a genetic origin<\/strong>; \u201cconsequently, linking hearing loss to a specific mutation is essential for formulating a prognosis and guiding family counseling.\u201d \u201cAdvances in genetics,\u201d the professor explains, \u201chave made it possible today to identify what twenty years ago would likely have been classified as \u2018cases of unknown origin.\u2019\u201d <strong>\u201cHere, patients\u2014both children and adults\u2014are systematically screened for genetic causes<\/strong>: this is standard practice, unless there is an identifiable and recognizable cause that allows us to immediately understand the situation.\u201d The test, Santarelli explains, involves a blood draw, subject to informed consent. The sample is then sent to the laboratory in Mestre, along with all documentation pertaining to the patient. The results are expected within six months.     ","multimedia":"video","video":"https:\/\/youtu.be\/o0UaxRc-U9w","immagine_paragrafo":false,"didascalia":""},{"titolo_paragrafo":"A More Reassuring Acoustic Future","testo_paragrafo":"It was in the Genetics and Cytogenetics Laboratory at the Ospedale dell\u2019Angelo that the team encountered a previously undescribed combination of variants, which revealed a new clinical picture. While prior to this discovery, pathogenic variants of this gene were exclusively associated with severe, progressive deafness, the Mestre laboratory discovered a new combination of variants of the same gene that instead accounts for stable, non-degenerative hearing loss: \u201cHearing function, in relation to the gene under study, is ensured by the synthesis of various functional proteins. Until now, the literature had described mutations in this gene that completely destroy the very proteins capable of ensuring normal hearing function,\u201d explains Chief Physician Favarato. The genetic combination we examined, however, ensures the full functionality of one of the proteins synthesized by the gene: it does not completely eliminate the proteins responsible for hearing, but preserves one that is capable of ensuring the patient\u2019s residual hearing ability. This provides us with a prognosis regarding the patient\u2019s future condition, which, from a hearing perspective, should remain unchanged and not progress to profound deafness. This discovery will also allow the very young patient to implement primary prevention measures for his future children.\u201d For doctors, the discovery therefore represents an additional tool for distinguishing clinical forms that appear similar but differ in their biological course and prognosis, with direct implications for the monitoring process as well.  \r\n\r\n","multimedia":"immagine","video":null,"immagine_paragrafo":{"ID":21495,"id":21495,"title":"E\u0301quipe di genetisti dell\u2019Angelo","filename":"Equipe-di-genetisti-dellAngelo-compress.jpg","filesize":253543,"url":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/Equipe-di-genetisti-dellAngelo-compress.jpg","link":"https:\/\/www.gvperte.it\/en\/scoperta-a-venezia-una-nuova-causa-genetica-della-sordita\/equipe-di-genetisti-dellangelo-2\/","alt":"","author":"110","description":"","caption":"E\u0301quipe di genetisti dell\u2019Angelo","name":"equipe-di-genetisti-dellangelo-2","status":"inherit","uploaded_to":21566,"date":"2026-07-06 10:16:29","modified":"2026-09-02 08:50:41","menu_order":0,"mime_type":"image\/jpeg","type":"image","subtype":"jpeg","icon":"https:\/\/www.gvperte.it\/wp-includes\/images\/media\/default.png","width":1024,"height":768,"sizes":{"thumbnail":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/Equipe-di-genetisti-dellAngelo-150x150.jpg","thumbnail-width":150,"thumbnail-height":150,"medium":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/Equipe-di-genetisti-dellAngelo-300x225.jpg","medium-width":300,"medium-height":225,"medium_large":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/Equipe-di-genetisti-dellAngelo-768x576.jpg","medium_large-width":768,"medium_large-height":576,"large":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/Equipe-di-genetisti-dellAngelo-compress.jpg","large-width":800,"large-height":600,"1536x1536":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/Equipe-di-genetisti-dellAngelo-compress.jpg","1536x1536-width":1024,"1536x1536-height":768,"2048x2048":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/Equipe-di-genetisti-dellAngelo-compress.jpg","2048x2048-width":1024,"2048x2048-height":768,"mailpoet_newsletter_max":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/Equipe-di-genetisti-dellAngelo-compress.jpg","mailpoet_newsletter_max-width":1024,"mailpoet_newsletter_max-height":768}},"didascalia":"Angelo's team of geneticists"},{"titolo_paragrafo":"What to Do If You Suspect Hearing Loss","testo_paragrafo":"This case is particularly significant because the hearing loss was not present at birth but developed during the school-age years. This is a point Santarelli emphasizes: <strong>\u201cNewborn hearing screening, now in place nationwide and in Veneto for many years, allows for the early identification of children with congenital deafness and their referral to appropriate diagnostic centers.\u201d<\/strong> However, there are cases of hearing loss that develop later: \u201cIn these cases, detection often depends on the vigilance of parents, pediatricians, and the school,\u201d the chief physician emphasizes. \u201cA child who turns up the volume on the television, frequently asks people to repeat themselves, or seems distracted in class may in fact be showing the first symptoms of hearing loss.\u201d Many forms of childhood hearing loss are inherited in an autosomal recessive pattern, so parents may be healthy carriers and no other cases of hearing loss may appear in the family. For this reason, Santarelli reiterates, <strong>in cases of isolated childhood hearing loss, genetic testing becomes essential<\/strong>, even when the family history does not seem to suggest a hereditary component: \u201cIn my opinion, it would be useful to establish a surveillance network involving pediatricians, families, and schools to identify cases of hearing loss that are missed by neonatal hearing screening.\u201d As for the adult population, Santarelli adds, <strong>the first healthcare professional to consult in cases of suspected hearing loss is the primary care physician<\/strong>.     ","multimedia":"immagine","video":null,"immagine_paragrafo":{"ID":21500,"id":21500,"title":"primaria rosamaria santarelli","filename":"primaria-rosamaria-santarelli-compress.jpg","filesize":266976,"url":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/primaria-rosamaria-santarelli-compress.jpg","link":"https:\/\/www.gvperte.it\/en\/scoperta-a-venezia-una-nuova-causa-genetica-della-sordita\/primaria-rosamaria-santarelli-2\/","alt":"","author":"110","description":"","caption":"","name":"primaria-rosamaria-santarelli-2","status":"inherit","uploaded_to":21566,"date":"2026-07-06 11:26:24","modified":"2026-09-02 08:50:41","menu_order":0,"mime_type":"image\/jpeg","type":"image","subtype":"jpeg","icon":"https:\/\/www.gvperte.it\/wp-includes\/images\/media\/default.png","width":1024,"height":768,"sizes":{"thumbnail":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/primaria-rosamaria-santarelli-150x150.jpg","thumbnail-width":150,"thumbnail-height":150,"medium":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/primaria-rosamaria-santarelli-300x225.jpg","medium-width":300,"medium-height":225,"medium_large":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/primaria-rosamaria-santarelli-768x576.jpg","medium_large-width":768,"medium_large-height":576,"large":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/primaria-rosamaria-santarelli-compress.jpg","large-width":800,"large-height":600,"1536x1536":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/primaria-rosamaria-santarelli-compress.jpg","1536x1536-width":1024,"1536x1536-height":768,"2048x2048":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/primaria-rosamaria-santarelli-compress.jpg","2048x2048-width":1024,"2048x2048-height":768,"mailpoet_newsletter_max":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/primaria-rosamaria-santarelli-compress.jpg","mailpoet_newsletter_max-width":1024,"mailpoet_newsletter_max-height":768}},"didascalia":"Rosamaria Santarelli Elementary School"},{"titolo_paragrafo":"A partnership that opens up new possibilities","testo_paragrafo":"The study published in the *Journal of Applied Laboratory Medicine* is the first result of a collaboration that ULSS 3 Serenissima considers strategic. <strong>Recently, the Venetian audiology center has already referred more than 200 patients with hearing loss and their family members to the Mestre laboratory, most of whom come from outside the region\u2014from northern, central, and southern Italy<\/strong>: a figure that confirms the appeal of these services and the importance of offering, alongside audiological diagnosis, the opportunity to identify a genetic cause. \u201cWe are the only ones in Italy to reliably perform electrocochleography using the transtympanic technique,\u201d Santarelli emphasizes, \u201cwhich involves the use of a thin needle-like electrode inserted through the eardrum to directly record the auditory nerve\u2019s responses. And for this method, we\u2019ve established a collaboration between the health authority and the University of Padua.\u201d Chiara Bovo, head of the Health Department at ULSS 3 Serenissima, highlights the impact of the work carried out: \u201cThis is a study of which we are immensely proud, one that will have a significant impact on the patient\u2019s future and on his family members; and, should the patient wish to have children, this discovery is also crucial for potential family planning, starting with genetic counseling. But the study that was conducted is also a first step toward the development of future gene therapies. And this young patient, who\u2014along with his family\u2014generously agreed to have his genetic material used as a case study, has recognized the great importance of the work that has been done, both for his clinical condition and for the international scientific community.\u201d  ","multimedia":"immagine","video":null,"immagine_paragrafo":{"ID":21504,"id":21504,"title":"laboratorio audiologia venezia2","filename":"laboratorio-audiologia-venezia2-compress.jpg","filesize":159997,"url":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia2-compress.jpg","link":"https:\/\/www.gvperte.it\/en\/scoperta-a-venezia-una-nuova-causa-genetica-della-sordita\/laboratorio-audiologia-venezia2-2\/","alt":"","author":"110","description":"","caption":"","name":"laboratorio-audiologia-venezia2-2","status":"inherit","uploaded_to":21566,"date":"2026-07-06 11:28:45","modified":"2026-09-02 08:50:41","menu_order":0,"mime_type":"image\/jpeg","type":"image","subtype":"jpeg","icon":"https:\/\/www.gvperte.it\/wp-includes\/images\/media\/default.png","width":1200,"height":1600,"sizes":{"thumbnail":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia2-150x150.jpg","thumbnail-width":150,"thumbnail-height":150,"medium":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia2-225x300.jpg","medium-width":225,"medium-height":300,"medium_large":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia2-768x1024.jpg","medium_large-width":768,"medium_large-height":1024,"large":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia2-600x800.jpg","large-width":600,"large-height":800,"1536x1536":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia2-1152x1536.jpg","1536x1536-width":1152,"1536x1536-height":1536,"2048x2048":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia2-compress.jpg","2048x2048-width":1200,"2048x2048-height":1600,"mailpoet_newsletter_max":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia2-compress.jpg","mailpoet_newsletter_max-width":1200,"mailpoet_newsletter_max-height":1600}},"didascalia":""}],"paragrafi_articolo_source":{"label":"Article Paragraphs","type":"repeater","formatted_value":[{"titolo_paragrafo":"From Clinical Suspicion to Sequencing","testo_paragrafo":"<p>The case illustrates how a diagnosis that had remained unresolved can be resolved years later, thanks to advances in sequencing technologies and the ability to integrate clinical observation, family history, and molecular analysis: \u201cThis discovery is part of the collaboration we recently established between our Audiology unit and the Genetics and Cytogenetics unit in Mestre,\u201d explains Santarelli, noting that the work arose from a very concrete clinical need: to arrive at an accurate diagnosis of hearing loss. According to the specialist, in fact, <strong>at least 70% of childhood hearing loss has a genetic origin<\/strong>; \u201cconsequently, linking hearing loss to a specific mutation is essential for formulating a prognosis and guiding family counseling.\u201d \u201cAdvances in genetics,\u201d the professor explains, \u201chave made it possible today to identify what twenty years ago would likely have been classified as \u2018cases of unknown origin.\u2019\u201d <strong>\u201cHere, patients\u2014both children and adults\u2014are systematically screened for genetic causes<\/strong>: this is standard practice, unless there is an identifiable and recognizable cause that allows us to immediately understand the situation.\u201d The test, Santarelli explains, involves a blood draw, subject to informed consent. The sample is then sent to the laboratory in Mestre, along with all documentation pertaining to the patient. The results are expected within six months.     <\/p>\n","multimedia":"video","video":"<iframe title=\"audiologia ulss3\" width=\"640\" height=\"360\" src=\"https:\/\/www.youtube.com\/embed\/o0UaxRc-U9w?feature=oembed\" frameborder=\"0\" allow=\"accelerometer; autoplay; clipboard-write; encrypted-media; gyroscope; picture-in-picture; web-share\" referrerpolicy=\"strict-origin-when-cross-origin\" allowfullscreen><\/iframe>","immagine_paragrafo":false,"didascalia":""},{"titolo_paragrafo":"A More Reassuring Acoustic Future","testo_paragrafo":"<p>It was in the Genetics and Cytogenetics Laboratory at the Ospedale dell\u2019Angelo that the team encountered a previously undescribed combination of variants, which revealed a new clinical picture. While prior to this discovery, pathogenic variants of this gene were exclusively associated with severe, progressive deafness, the Mestre laboratory discovered a new combination of variants of the same gene that instead accounts for stable, non-degenerative hearing loss: \u201cHearing function, in relation to the gene under study, is ensured by the synthesis of various functional proteins. Until now, the literature had described mutations in this gene that completely destroy the very proteins capable of ensuring normal hearing function,\u201d explains Chief Physician Favarato. The genetic combination we examined, however, ensures the full functionality of one of the proteins synthesized by the gene: it does not completely eliminate the proteins responsible for hearing, but preserves one that is capable of ensuring the patient\u2019s residual hearing ability. This provides us with a prognosis regarding the patient\u2019s future condition, which, from a hearing perspective, should remain unchanged and not progress to profound deafness. This discovery will also allow the very young patient to implement primary prevention measures for his future children.\u201d For doctors, the discovery therefore represents an additional tool for distinguishing clinical forms that appear similar but differ in their biological course and prognosis, with direct implications for the monitoring process as well.  <\/p>\n","multimedia":"immagine","video":null,"immagine_paragrafo":{"ID":21495,"id":21495,"title":"E\u0301quipe di genetisti dell\u2019Angelo","filename":"Equipe-di-genetisti-dellAngelo-compress.jpg","filesize":253543,"url":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/Equipe-di-genetisti-dellAngelo-compress.jpg","link":"https:\/\/www.gvperte.it\/en\/scoperta-a-venezia-una-nuova-causa-genetica-della-sordita\/equipe-di-genetisti-dellangelo-2\/","alt":"","author":"110","description":"","caption":"E\u0301quipe di genetisti dell\u2019Angelo","name":"equipe-di-genetisti-dellangelo-2","status":"inherit","uploaded_to":21566,"date":"2026-07-06 10:16:29","modified":"2026-09-02 08:50:41","menu_order":0,"mime_type":"image\/jpeg","type":"image","subtype":"jpeg","icon":"https:\/\/www.gvperte.it\/wp-includes\/images\/media\/default.png","width":1024,"height":768,"sizes":{"thumbnail":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/Equipe-di-genetisti-dellAngelo-150x150.jpg","thumbnail-width":150,"thumbnail-height":150,"medium":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/Equipe-di-genetisti-dellAngelo-300x225.jpg","medium-width":300,"medium-height":225,"medium_large":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/Equipe-di-genetisti-dellAngelo-768x576.jpg","medium_large-width":768,"medium_large-height":576,"large":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/Equipe-di-genetisti-dellAngelo-compress.jpg","large-width":800,"large-height":600,"1536x1536":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/Equipe-di-genetisti-dellAngelo-compress.jpg","1536x1536-width":1024,"1536x1536-height":768,"2048x2048":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/Equipe-di-genetisti-dellAngelo-compress.jpg","2048x2048-width":1024,"2048x2048-height":768,"mailpoet_newsletter_max":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/Equipe-di-genetisti-dellAngelo-compress.jpg","mailpoet_newsletter_max-width":1024,"mailpoet_newsletter_max-height":768}},"didascalia":"Angelo's team of geneticists"},{"titolo_paragrafo":"What to Do If You Suspect Hearing Loss","testo_paragrafo":"<p>This case is particularly significant because the hearing loss was not present at birth but developed during the school-age years. This is a point Santarelli emphasizes: <strong>\u201cNewborn hearing screening, now in place nationwide and in Veneto for many years, allows for the early identification of children with congenital deafness and their referral to appropriate diagnostic centers.\u201d<\/strong> However, there are cases of hearing loss that develop later: \u201cIn these cases, detection often depends on the vigilance of parents, pediatricians, and the school,\u201d the chief physician emphasizes. \u201cA child who turns up the volume on the television, frequently asks people to repeat themselves, or seems distracted in class may in fact be showing the first symptoms of hearing loss.\u201d Many forms of childhood hearing loss are inherited in an autosomal recessive pattern, so parents may be healthy carriers and no other cases of hearing loss may appear in the family. For this reason, Santarelli reiterates, <strong>in cases of isolated childhood hearing loss, genetic testing becomes essential<\/strong>, even when the family history does not seem to suggest a hereditary component: \u201cIn my opinion, it would be useful to establish a surveillance network involving pediatricians, families, and schools to identify cases of hearing loss that are missed by neonatal hearing screening.\u201d As for the adult population, Santarelli adds, <strong>the first healthcare professional to consult in cases of suspected hearing loss is the primary care physician<\/strong>.     <\/p>\n","multimedia":"immagine","video":null,"immagine_paragrafo":{"ID":21500,"id":21500,"title":"primaria rosamaria santarelli","filename":"primaria-rosamaria-santarelli-compress.jpg","filesize":266976,"url":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/primaria-rosamaria-santarelli-compress.jpg","link":"https:\/\/www.gvperte.it\/en\/scoperta-a-venezia-una-nuova-causa-genetica-della-sordita\/primaria-rosamaria-santarelli-2\/","alt":"","author":"110","description":"","caption":"","name":"primaria-rosamaria-santarelli-2","status":"inherit","uploaded_to":21566,"date":"2026-07-06 11:26:24","modified":"2026-09-02 08:50:41","menu_order":0,"mime_type":"image\/jpeg","type":"image","subtype":"jpeg","icon":"https:\/\/www.gvperte.it\/wp-includes\/images\/media\/default.png","width":1024,"height":768,"sizes":{"thumbnail":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/primaria-rosamaria-santarelli-150x150.jpg","thumbnail-width":150,"thumbnail-height":150,"medium":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/primaria-rosamaria-santarelli-300x225.jpg","medium-width":300,"medium-height":225,"medium_large":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/primaria-rosamaria-santarelli-768x576.jpg","medium_large-width":768,"medium_large-height":576,"large":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/primaria-rosamaria-santarelli-compress.jpg","large-width":800,"large-height":600,"1536x1536":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/primaria-rosamaria-santarelli-compress.jpg","1536x1536-width":1024,"1536x1536-height":768,"2048x2048":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/primaria-rosamaria-santarelli-compress.jpg","2048x2048-width":1024,"2048x2048-height":768,"mailpoet_newsletter_max":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/primaria-rosamaria-santarelli-compress.jpg","mailpoet_newsletter_max-width":1024,"mailpoet_newsletter_max-height":768}},"didascalia":"Rosamaria Santarelli Elementary School"},{"titolo_paragrafo":"A partnership that opens up new possibilities","testo_paragrafo":"<p>The study published in the *Journal of Applied Laboratory Medicine* is the first result of a collaboration that ULSS 3 Serenissima considers strategic. <strong>Recently, the Venetian audiology center has already referred more than 200 patients with hearing loss and their family members to the Mestre laboratory, most of whom come from outside the region\u2014from northern, central, and southern Italy<\/strong>: a figure that confirms the appeal of these services and the importance of offering, alongside audiological diagnosis, the opportunity to identify a genetic cause. \u201cWe are the only ones in Italy to reliably perform electrocochleography using the transtympanic technique,\u201d Santarelli emphasizes, \u201cwhich involves the use of a thin needle-like electrode inserted through the eardrum to directly record the auditory nerve\u2019s responses. And for this method, we\u2019ve established a collaboration between the health authority and the University of Padua.\u201d Chiara Bovo, head of the Health Department at ULSS 3 Serenissima, highlights the impact of the work carried out: \u201cThis is a study of which we are immensely proud, one that will have a significant impact on the patient\u2019s future and on his family members; and, should the patient wish to have children, this discovery is also crucial for potential family planning, starting with genetic counseling. But the study that was conducted is also a first step toward the development of future gene therapies. And this young patient, who\u2014along with his family\u2014generously agreed to have his genetic material used as a case study, has recognized the great importance of the work that has been done, both for his clinical condition and for the international scientific community.\u201d  <\/p>\n","multimedia":"immagine","video":null,"immagine_paragrafo":{"ID":21504,"id":21504,"title":"laboratorio audiologia venezia2","filename":"laboratorio-audiologia-venezia2-compress.jpg","filesize":159997,"url":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia2-compress.jpg","link":"https:\/\/www.gvperte.it\/en\/scoperta-a-venezia-una-nuova-causa-genetica-della-sordita\/laboratorio-audiologia-venezia2-2\/","alt":"","author":"110","description":"","caption":"","name":"laboratorio-audiologia-venezia2-2","status":"inherit","uploaded_to":21566,"date":"2026-07-06 11:28:45","modified":"2026-09-02 08:50:41","menu_order":0,"mime_type":"image\/jpeg","type":"image","subtype":"jpeg","icon":"https:\/\/www.gvperte.it\/wp-includes\/images\/media\/default.png","width":1200,"height":1600,"sizes":{"thumbnail":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia2-150x150.jpg","thumbnail-width":150,"thumbnail-height":150,"medium":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia2-225x300.jpg","medium-width":225,"medium-height":300,"medium_large":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia2-768x1024.jpg","medium_large-width":768,"medium_large-height":1024,"large":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia2-600x800.jpg","large-width":600,"large-height":800,"1536x1536":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia2-1152x1536.jpg","1536x1536-width":1152,"1536x1536-height":1536,"2048x2048":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia2-compress.jpg","2048x2048-width":1200,"2048x2048-height":1600,"mailpoet_newsletter_max":"https:\/\/www.gvperte.it\/wp-content\/uploads\/2026\/07\/laboratorio-audiologia-venezia2-compress.jpg","mailpoet_newsletter_max-width":1200,"mailpoet_newsletter_max-height":1600}},"didascalia":""}]},"parole_chiave":[],"parole_chiave_source":{"label":"Keywords.","type":"taxonomy","formatted_value":false},"autore_esterno":"","autore_esterno_source":{"label":"Autore Esterno","type":"text","formatted_value":""}},"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.5 - 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