{"id":9465,"date":"2012-10-02T00:00:00","date_gmt":"2012-10-01T22:00:00","guid":{"rendered":"https:\/\/idibell.cat\/blog\/2012\/10\/02\/desenvolupat-un-nou-test-per-diagnosticar-susceptibilitat-genetica-a-patir-neuropaties\/"},"modified":"2022-03-30T16:52:04","modified_gmt":"2022-03-30T14:52:04","slug":"desenvolupat-un-nou-test-per-diagnosticar-susceptibilitat-genetica-a-patir-neuropaties","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2012\/10\/desenvolupat-un-nou-test-per-diagnosticar-susceptibilitat-genetica-a-patir-neuropaties\/","title":{"rendered":"Desenvolupat un nou test per diagnosticar susceptibilitat gen\u00e8tica a patir neuropaties"},"content":{"rendered":"

El Centre de Diagn\u00f2stic Gen\u00e8tic Molecular<\/a> de l\u2019IDIBELL ha participat en el desenvolupament d\u2019un test gen\u00e8tic que permet analitzar mitjan\u00e7ant una sofisticada tecnologia de seq\u00fcenciaci\u00f3 massiva fins a 285 gens relacionats amb diverses malalties neurol\u00f2giques. La prova permet reduir en m\u00e9s de tres vegades el temps d\u2019obtenci\u00f3 de resultats i disminueix en gaireb\u00e9 cent vegades el seu preu respecte de la t\u00e8cnica est\u00e0ndard, que es basa en analitzar els gens per separat. El test, anomenat Neuro GeneProfile, ha estat desenvolupat per l\u2019empresa valenciana Sistemas Gen\u00f3micos<\/a> que, juntament amb l\u2019IDIBELL, ha comptat amb la col\u00b7laboraci\u00f3 d\u2019investigadors de l\u2019Institut d\u2019Investigaci\u00f3 en Ci\u00e8ncies de la Salut Germans Trias i Pujol (IGTP)<\/a>.<\/p>\n

El test permet analitzar els gens relacionats amb la malaltia de Parkinson o la malaltia de Charcot-Marie-Tooth, la neuropatia motora i sensitiva d\u2019origen hereditari m\u00e9s freq\u00fcent a Espanya. Tamb\u00e9 permet analitzar gens associats amb altres trastorns neurol\u00f2gics minoritaris com les at\u00e0xies heredit\u00e0ries, les at\u00e0xies autos\u00f2miques recessives, les paraplegies esp\u00e0stiques heredit\u00e0ries, les s\u00edndromes miast\u00e8niques, les miopaties, les distr\u00f2fies musculars i algunes atr\u00f2fies medul\u00b7lars.<\/p>\n

Durant la presentaci\u00f3 del test, que ha tingut lloc el dia 1 d\u2019octubre a l\u2019hotel W de Barcelona, el responsable del Centre de Diagn\u00f2stic Gen\u00e8tic Molecular de l\u2019IDIBELL, V\u00edctor Volpini, ha destacat que \u201cla t\u00e8cnica permet aconseguir una gran especificitat\u201d. Volpini ha anunciat que la col\u00b7laboraci\u00f3 amb Sistemas Gen\u00f3micos \u00e9s \u201cuna relaci\u00f3 cont\u00ednua\u201d i que en el futur hi haur\u00e0 \u201cnous aven\u00e7os\u201d.<\/p>\n

El Centre de Diagn\u00f2stic Gen\u00e8tic Molecular de l\u2019IDIBELL \u00e9s pioner a Espanya en la realitzaci\u00f3 d’estudis moleculars de gen\u00e8tica cl\u00ednica. Des del 1990 desenvolupa la seva activitat amb objectius assistencials i de recerca.<\/p>\n","protected":false},"excerpt":{"rendered":"

El Centre de Diagn\u00f2stic Gen\u00e8tic Molecular de l\u2019IDIBELL ha participat en el desenvolupament d\u2019un test gen\u00e8tic que permet analitzar mitjan\u00e7ant una sofisticada tecnologia de seq\u00fcenciaci\u00f3 massiva fins a 285 gens relacionats amb diverses malalties neurol\u00f2giques. La prova permet reduir en m\u00e9s de tres vegades el temps d\u2019obtenci\u00f3 de resultats i disminueix en gaireb\u00e9 cent vegades […]<\/p>\n","protected":false},"author":6,"featured_media":21038,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"no-sidebar","site-content-layout":"page-builder","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"default","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"categories":[1],"tags":[],"publishpress_future_action":{"enabled":false,"date":"2024-05-11 08:27:07","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/9465"}],"collection":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/comments?post=9465"}],"version-history":[{"count":2,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/9465\/revisions"}],"predecessor-version":[{"id":21039,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/9465\/revisions\/21039"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/21038"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=9465"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=9465"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=9465"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}