El dimecres 25 d\u2019abril se celebra el dia nacional de la fibrosi qu\u00edstica, una de les malalties gen\u00e8tiques greus m\u00e9s freq\u00fcents, que afecta un de cada cinc mil naixements. El grup de Gen\u00e8tica Molecular Humana de l\u2019IDIBELL investiga per trobar nous tractaments contra la fibrosi qu\u00edstica, tant des d\u2019un abordatge funcional com des del desenvolupament de ter\u00e0pies g\u00e8niques. La recerca que es du a terme a l\u2019IDIBELL sobre aquesta malaltia \u00e9s possible gr\u00e0cies al suport de l\u2019Associaci\u00f3 Catalana de Fibrosi Qu\u00edstica, que finan\u00e7a personal i material d\u2019investigaci\u00f3.<\/p>\n
La fibrosi qu\u00edstica \u00e9s una malaltia cr\u00f2nica d\u2019origen gen\u00e8tic que afecta diferents \u00f2rgans, especialment els pulmons i el p\u00e0ncrees. Malgrat que en els darrers anys s\u2019han produ\u00eft aven\u00e7os molt importants en el coneixement i el tractament simptom\u00e0tic, cosa que ha millorat molt la qualitat i expectativa de vida dels afectats, encara continua sent una malaltia incurable. La fibrosi qu\u00edstica es deu a les mutacions del gen CFTR<\/em>, responsable de la fabricaci\u00f3 d\u2019una prote\u00efna amb el mateix nom que transporta ions clorur a trav\u00e9s de les c\u00e8l\u00b7lules epitelials dels teixits i que controla la regulaci\u00f3 d\u2019altres canals. Des de l\u2019any 1989, quan es va caracteritzar el gen, se n\u2019han descobert prop de dues mil mutacions, que incideixen en diferents fases del proc\u00e9s de bios\u00edntesi de la prote\u00efna a les c\u00e8l\u00b7lules epitelials. Tamb\u00e9 s\u2019han descobert alteracions en altres gens relacionats amb CFTR<\/em>, que condicionen les manifestacions i l\u2019evoluci\u00f3 de la malaltia.<\/p>\n Diferents abordatges<\/strong><\/p>\n A l\u2019IDIBELL, els equips coordinats per Josep Maria Aran i Teresa Casals, investigadors del grup de Gen\u00e8tica Molecular Humana, duen a terme estudis sobre la malaltia a partir de diferents abordatges. El grup del doctor Josep Maria Aran investiga ter\u00e0pies g\u00e8niques que permetin corregir la mutaci\u00f3 en el gen CFTR. L\u2019investigador reconeix que \u201cla ter\u00e0pia g\u00e8nica ser\u00e0 definitiva per acabar amb la malaltia\u201d, per\u00f2 existeixen nombroses dificultats per poder-la desenvolupar i encara \u00e9s aviat per poder considerar-la una alternativa terap\u00e8utica.<\/p>\n M\u00e9s avan\u00e7ats estan els estudis funcionals. Actualment, s\u2019estan duent a terme assaigs cl\u00ednics amb la mol\u00e8cula VX-770, que ajuda a que el canal CFTR s\u2019obri i es tanqui de manera regular. Tamb\u00e9 s\u2019estan estudiant altres mol\u00e8cules per corregir la mutaci\u00f3 m\u00e9s freq\u00fcent del gen, la F508del. Altres investigacions, en les quals participa l\u2019IDIBELL, aborden processos associats a la malaltia que incideixen en la qualitat de vida dels malalts, com les infeccions, la inflamaci\u00f3 i l\u2019estr\u00e8s oxidatiu cel\u00b7lular. L\u2019equip liderat per la doctora Casals est\u00e0 investigant, juntament amb investigadors de l\u2019hospital de la Vall d\u2019Hebron, nous m\u00e8todes de diagn\u00f2stic que permeten con\u00e8ixer l\u2019efecte de les mutacions que afecten els malalts, aix\u00ed com les variants que modifiquen el fenotip per tal de obtenir nous biomarcadors i potencials dianes terap\u00e8utiques.<\/p>\n La recerca en fibrosi qu\u00edstica \u00e9s possible gr\u00e0cies a la implicaci\u00f3 d\u2019associacions de malalts i del finan\u00e7ament d\u2019entitats p\u00fabliques. Per aix\u00f2, en l\u2019edici\u00f3 d\u2019aquest any del dia nacional d\u2019aquesta malaltia, la Federaci\u00f3 Espanyola de Fibrosi Qu\u00edstica alerta que les retallades en recerca i en salut podrien posar en perill la continu\u00eftat de molts projectes d\u2019investigaci\u00f3.<\/p>\n","protected":false},"excerpt":{"rendered":" El dimecres 25 d\u2019abril se celebra el dia nacional de la fibrosi qu\u00edstica, una de les malalties gen\u00e8tiques greus m\u00e9s freq\u00fcents, que afecta un de cada cinc mil naixements. El grup de Gen\u00e8tica Molecular Humana de l\u2019IDIBELL investiga per trobar nous tractaments contra la fibrosi qu\u00edstica, tant des d\u2019un abordatge funcional com des del desenvolupament […]<\/p>\n","protected":false},"author":6,"featured_media":22139,"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-opacity":"","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-opacity":"","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-opacity":"","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-opacity":"","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-opacity":"","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-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[396,334,464,378],"tags":[],"class_list":["post-9520","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genetica-molecular-humana","category-medicina-translacional","category-p-de-gens-malaltia-i-terapia","category-processos-immune-inflamatoris-i-terapia-genica"],"publishpress_future_action":{"enabled":false,"date":"2025-03-02 12:24:13","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/9520","targetHints":{"allow":["GET"]}}],"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=9520"}],"version-history":[{"count":2,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/9520\/revisions"}],"predecessor-version":[{"id":22141,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/9520\/revisions\/22141"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/22139"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=9520"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=9520"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=9520"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}