{"id":7732,"date":"2019-05-07T10:43:45","date_gmt":"2019-05-07T10:43:45","guid":{"rendered":"https:\/\/acapps.org\/web\/?p=7732"},"modified":"2019-05-08T10:19:58","modified_gmt":"2019-05-08T10:19:58","slug":"lhospital-ramon-y-cajal-dissenya-una-nova-eina-diagnostica-de-variacions-genetiques-associades-a-la-sordesa-hereditaria","status":"publish","type":"post","link":"https:\/\/acapps.org\/web\/2019\/05\/07\/lhospital-ramon-y-cajal-dissenya-una-nova-eina-diagnostica-de-variacions-genetiques-associades-a-la-sordesa-hereditaria\/","title":{"rendered":"L&#8217;hospital Ramon y Cajal dissenya una nova eina diagn\u00f2stica de variacions gen\u00e8tiques associades a la sordesa heredit\u00e0ria"},"content":{"rendered":"<p>El grup de Gen\u00e8tica i Patologia Neurosensorial de l&#8217;<a href=\"http:\/\/www.irycis.org\/\">Institut Ramon i Cajal d&#8217;Investigaci\u00f3 Sanit\u00e0ria (IRYCIS)<\/a> liderat pel doctor Miguel \u00c1ngel Moreno, cap de Servei de Gen\u00e8tica de l&#8217;Hospital Universitari Ram\u00f3n i Cajal, ha dissenyat un nou sistema de detecci\u00f3 de variacions gen\u00e8tiques associades a la sordesa.<\/p>\n<p>&nbsp;<\/p>\n<p>Aquest grup que, \u00e9s referent en la comunitat cient\u00edfica internacional per la seva recerca en sordeses d&#8217;origen gen\u00e8tic juntament amb el suport de la Unitat d&#8217;Innovaci\u00f3 de l&#8217;hospital, ha llicenciat l&#8217;eina a l&#8217;empresa Genycell perqu\u00e8 arribi als serveis de gen\u00e8tica d&#8217;altres hospitals.<\/p>\n<p>&nbsp;<\/p>\n<p>Aquesta eina integral permet seq\u00fcenciar en paral\u00b7lel m\u00e9s de 100 gens associats a la hipoac\u00fasia heredit\u00e0ria i realitzar l&#8217;an\u00e0lisi de les variants trobades.<\/p>\n<p>Aquesta investigaci\u00f3 d&#8217;elevat component translacional ha perm\u00e8s el desenvolupament i validaci\u00f3 d&#8217;una eina de diagn\u00f2stic gen\u00e8tic anomenada OTO-NGS-panell per a l&#8217;estudi dels diferents tipus d&#8217;hipoac\u00fasies heredit\u00e0ries mitjan\u00e7ant t\u00e8cniques de seq\u00fcenciaci\u00f3 massiva i l&#8217;an\u00e0lisi de les variants trobades mitjan\u00e7ant un software desenvolupat per l&#8217;empresa Sophia Genetics.<\/p>\n<p>&nbsp;<\/p>\n<p><span style=\"color: #003366;\"><strong>DIAGN\u00d2STICS M\u00c9S EFICIENTS<\/strong><\/span><\/p>\n<p>Aquesta eina integral permet seq\u00fcenciar en paral\u00b7lel m\u00e9s de 100 gens associats a hipoac\u00fasia heredit\u00e0ria i realitzar l&#8217;an\u00e0lisi de les variants trobades, tant mutacions puntuals com aquelles que alteren el nombre de c\u00f2pies d&#8217;un determinat gen, de manera autom\u00e0tica, facilitant que el proc\u00e9s de prioritzaci\u00f3 i selecci\u00f3 de les variants patog\u00e8niques es faci de manera intu\u00eftiva.<\/p>\n<p>&nbsp;<\/p>\n<p>El conjunt de les hipoac\u00fasia heredit\u00e0ries es consideren gen\u00e8ticament malalties rares, i la seva estratificaci\u00f3 sobre la base del tipus de gen i mutaci\u00f3 trobada \u00e9s crucial per al desenvolupament d&#8217;abordatges terap\u00e8utics espec\u00edfics en cada cas.<\/p>\n<p>&nbsp;<\/p>\n<p>L&#8217;eina OTO-NGS-panell permet de manera cost-efectiva un abordatge integral d&#8217;aquests desordres hereditaris podent diagnosticar al voltant del 50% de les hipoac\u00fasies heredit\u00e0ries autos\u00f2miques dominants i un 75% de les recessives.<\/p>\n<p>Font: Consalud.es<\/p>\n","protected":false},"excerpt":{"rendered":"<p>El grup de Gen\u00e8tica i Patologia Neurosensorial de l&#8217;Institut Ramon i Cajal d&#8217;Investigaci\u00f3 Sanit\u00e0ria (IRYCIS) liderat pel doctor Miguel \u00c1ngel Moreno, cap de Servei de Gen\u00e8tica de l&#8217;Hospital Universitari Ram\u00f3n i Cajal, ha dissenyat un nou sistema de detecci\u00f3 de variacions gen\u00e8tiques associades a la sordesa. &nbsp; Aquest grup que, \u00e9s referent en la comunitat cient\u00edfica internacional per la seva recerca en sordeses d&#8217;origen gen\u00e8tic&#8230; <\/p>\n<p><a class=\"readmore\" href=\"https:\/\/acapps.org\/web\/2019\/05\/07\/lhospital-ramon-y-cajal-dissenya-una-nova-eina-diagnostica-de-variacions-genetiques-associades-a-la-sordesa-hereditaria\/\">LLEGIR M\u00c9S<\/a><\/p>\n","protected":false},"author":3,"featured_media":7734,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[107,109,8,106,105,85,108,32,104,82,62],"tags":[],"_links":{"self":[{"href":"https:\/\/acapps.org\/web\/wp-json\/wp\/v2\/posts\/7732"}],"collection":[{"href":"https:\/\/acapps.org\/web\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/acapps.org\/web\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/acapps.org\/web\/wp-json\/wp\/v2\/users\/3"}],"replies":[{"embeddable":true,"href":"https:\/\/acapps.org\/web\/wp-json\/wp\/v2\/comments?post=7732"}],"version-history":[{"count":2,"href":"https:\/\/acapps.org\/web\/wp-json\/wp\/v2\/posts\/7732\/revisions"}],"predecessor-version":[{"id":7735,"href":"https:\/\/acapps.org\/web\/wp-json\/wp\/v2\/posts\/7732\/revisions\/7735"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/acapps.org\/web\/wp-json\/wp\/v2\/media\/7734"}],"wp:attachment":[{"href":"https:\/\/acapps.org\/web\/wp-json\/wp\/v2\/media?parent=7732"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/acapps.org\/web\/wp-json\/wp\/v2\/categories?post=7732"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/acapps.org\/web\/wp-json\/wp\/v2\/tags?post=7732"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}