{"id":36798,"date":"2025-12-25T08:00:00","date_gmt":"2025-12-25T07:00:00","guid":{"rendered":"https:\/\/www.mgc.es\/?p=36798"},"modified":"2025-10-14T15:27:11","modified_gmt":"2025-10-14T13:27:11","slug":"que-es-la-terapia-genica-malalties-i-aplicacions","status":"publish","type":"post","link":"https:\/\/www.mgc.es\/ca\/blog\/que-es-la-terapia-genica-malalties-i-aplicacions\/","title":{"rendered":"Qu\u00e8 \u00e9s la ter\u00e0pia g\u00e8nica? Malalties i aplicacions"},"content":{"rendered":"<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_82_1 counter-hierarchy ez-toc-counter ez-toc-custom ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\"><p class=\"ez-toc-title\" style=\"cursor:inherit\">\u00cdndex de continguts<\/p>\n<\/div><nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.mgc.es\/ca\/blog\/que-es-la-terapia-genica-malalties-i-aplicacions\/#Quines_malalties_es_poden_tractar_amb_aquesta_terapia\" >Quines malalties es poden tractar amb aquesta ter\u00e0pia<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.mgc.es\/ca\/blog\/que-es-la-terapia-genica-malalties-i-aplicacions\/#Altres_malalties\" >Altres malalties<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.mgc.es\/ca\/blog\/que-es-la-terapia-genica-malalties-i-aplicacions\/#En_resum\" >En resum<\/a><\/li><\/ul><\/nav><\/div>\n\n<p>La ter\u00e0pia g\u00e8nica (o gen\u00e8tica) \u00e9s una t\u00e8cnica per corregir l&#8217;ADN del pacient d&#8217;una determinada malaltia o trastorn que consisteix a afegir un gen absent en les seves c\u00e8l\u00b7lules per tractar la malaltia en q\u00fcesti\u00f3 o per prevenir-la. Tamb\u00e9 s&#8217;utilitza reempla\u00e7ant un gen defectu\u00f3s o danyat. El gen corregeix la producci\u00f3 de prote\u00efnes que no compleixen adequadament la seva funci\u00f3, o que puguin estar absents completament.<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"880\" height=\"538\" src=\"https:\/\/www.mgc.es\/wp-content\/uploads\/2025\/10\/image-4-880x538.jpeg\" alt=\"\" class=\"wp-image-36793\" srcset=\"https:\/\/www.mgc.es\/wp-content\/uploads\/2025\/10\/image-4-880x538.jpeg 880w, https:\/\/www.mgc.es\/wp-content\/uploads\/2025\/10\/image-4-440x269.jpeg 440w, https:\/\/www.mgc.es\/wp-content\/uploads\/2025\/10\/image-4-768x470.jpeg 768w, https:\/\/www.mgc.es\/wp-content\/uploads\/2025\/10\/image-4-scaled.jpeg 1024w\" sizes=\"auto, (max-width: 880px) 100vw, 880px\" \/><\/figure>\n\n\n\n<p>\u00c9s un dels aven\u00e7os m\u00e9s significatius de la medicina actual, i t\u00e9 un elevat poder terap\u00e8utic, sobretot en malalties gen\u00e8tiques i rares.<\/p>\n\n\n\n<p>Aquesta ter\u00e0pia permet tractar <a href=\"https:\/\/medlineplus.gov\/spanish\/geneticdisorders.html\">malalties gen\u00e8tiques<\/a> heredit\u00e0ries o b\u00e9 trastorns adquirits, mitjan\u00e7ant:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>La desactivaci\u00f3 d&#8217;un gen que causa la producci\u00f3 d&#8217;una prote\u00efna defectuosa o nociu<\/li>\n\n\n\n<li>L&#8217;activaci\u00f3 d&#8217;un gen per augmentar la producci\u00f3 d&#8217;una prote\u00efna insuficient<\/li>\n\n\n\n<li>L&#8217;eliminaci\u00f3 d&#8217;un tros d&#8217;ADN que \u00e9s el causant de la malaltia<\/li>\n\n\n\n<li>La correcci\u00f3 d&#8217;una possible mutaci\u00f3 d&#8217;un gen determinat.<\/li>\n<\/ul>\n\n\n\n<p>A tal efecte, s&#8217;utilitzen vectors virals amb capacitat per penetrar en les c\u00e8l\u00b7lules i introduir-hi el material gen\u00e8tic adequat.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Quines_malalties_es_poden_tractar_amb_aquesta_terapia\"><\/span>Quines malalties es poden tractar amb aquesta ter\u00e0pia<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>L&#8217;\u00fas de la ter\u00e0pia g\u00e8nica est\u00e0 considerat avui dia com una ter\u00e0pia experimental i encara no est\u00e0 est\u00e8s. Els primers trastorns que s&#8217;han tractat s\u00f3n algunes malalties gen\u00e8tiques heredit\u00e0ries i altres adquirides, com:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>L&#8217;hemof\u00edlia (un trastorn de coagulaci\u00f3 de la sang, pel qual aquesta no es coagula correctament). \u00c9s heredit\u00e0ria<\/li>\n\n\n\n<li>L&#8217;an\u00e8mia de c\u00e8l\u00b7lules falciformes, per la qual els gl\u00f2buls roigs adquireixen una forma an\u00f2mala i bloquegen la circulaci\u00f3. \u00c9s igualment heredit\u00e0ria<\/li>\n\n\n\n<li>La <a href=\"https:\/\/www.mgc.es\/ca\/blog\/fibrosi-quistica\/\">fibrosi qu\u00edstica<\/a>, per la qual es formen acumulacions de muc als pulmons o en el tracte digestiu. \u00c9s potencialment mortal i igualment heredit\u00e0ria<\/li>\n\n\n\n<li>La <a href=\"https:\/\/www.mgc.es\/ca\/blog\/leucemia-aguda-que-nhas-de-saber\/\">leuc\u00e8mia<\/a>, un c\u00e0ncer de la sang, del qual hi ha molts tipus. No \u00e9s heredit\u00e0ria, i es deu a una mutaci\u00f3 gen\u00e8tica<\/li>\n\n\n\n<li>La talass\u00e8mia, que \u00e9s un trastorn de la sang pel qual el cos produeix una quantitat excessiva d&#8217;hemoglobina (la prote\u00efna dels gl\u00f2buls roigs encarregada de l&#8217;aport d&#8217;oxigen a les c\u00e8l\u00b7lules). Destrueix gran quantitat de gl\u00f2buls roigs i causa finalment an\u00e8mia. \u00c9s heredit\u00e0ria.<\/li>\n<\/ul>\n\n\n\n<p>En estudis precl\u00ednics, la ter\u00e0pia g\u00e8nica es mostra prometedora en les malalties i trastorns seg\u00fcents:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Problemes metab\u00f2lics del fetge<\/li>\n\n\n\n<li>Hipercolesterol\u00e8mia familiar, un trastorn hereditari pel qual s&#8217;incrementa la producci\u00f3 de <a href=\"https:\/\/www.mgc.es\/ca\/blog\/descobreix-ho-tot-sobre-el-colesterol-dhdl\/\">colesterol<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.analesdepediatria.org\/es-sindrome-crigler-najjar-diagnostico-tratamiento-articulo-13090900\">S\u00edndrome de Crigler-Naijar<\/a>, que impedeix la correcta eliminaci\u00f3 de la bilirubina (encarregada d&#8217;eliminar del cos els gl\u00f2buls roigs vells)<\/li>\n\n\n\n<li><a href=\"https:\/\/www.msdmanuals.com\/es\/hogar\/trastornos-nutricionales\/minerales\/enfermedad-de-wilson\">Malaltia de Wilson<\/a>, que causa una an\u00f2mala acumulaci\u00f3 de coure en \u00f2rgans com el fetge, el cervell i els ulls<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"Altres_malalties\"><\/span>Altres malalties<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Entre altres m\u00faltiples trastorns i malalties susceptibles de tractar-se mitjan\u00e7ant ter\u00e0pia g\u00e8nica, cal destacar:<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>El c\u00e0ncer. La <a href=\"https:\/\/cancercenter.cun.es\/todo-sobre-cancer\/tratamientos\/terapia-celulas-cart\">ter\u00e0pia CAR-T<\/a> es mostra prometedora modificant la gen\u00e8tica dels limf\u00f2cits T del pacient. Els limf\u00f2cits T s\u00f3n uns gl\u00f2buls blancs que formen part del sistema immunitari. Tenen funcions clau en la destrucci\u00f3 de c\u00e8l\u00b7lules canceroses o simplement infectades.<\/li>\n\n\n\n<li><a href=\"https:\/\/www.duchenne-spain.org\/que-es-duchenne\/?gad_source=1&amp;gad_campaignid=1395638155&amp;gbraid=0AAAAAC_93aau0NZcxKAXNpC4fk9Ws_SV6&amp;gclid=CjwKCAjwisnGBhAXEiwA0zEOR2OjcogqSkpVeJBqs7yf97MIXFnXpQUNb7Lbw3AhW5dz2n1wvFqKKBoCT38QAvD_BwE\">Distr\u00f2fia muscular de Duchenne<\/a>. \u00c9s un trastorn progressiu dels m\u00fasculs, que acaben per perdre la seva funci\u00f3 i perjudicant en gran mesura la mobilitat del pacient. Es deu a una mutaci\u00f3 del gen que codifica la distrofina, una prote\u00efna de les c\u00e8l\u00b7lules musculars, fonamental per a la funci\u00f3 muscular correcta.<\/li>\n\n\n\n<li>Malalties rares. Hi ha descrites m\u00e9s de 7.000 <a href=\"https:\/\/fundacioncolumbus.org\/ejes-de-actuacion\/salud\/terapia-genica\/\">malalties d&#8217;aquest tipus<\/a>, que s\u00f3n les que presenten menys de cinc casos per cada 10.000 habitants, que en el seu conjunt afecten milions de persones a tot el m\u00f3n.<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"En_resum\"><\/span>En resum<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>Aquesta t\u00e8cnica \u00e9s revolucion\u00e0ria en la medicina actual i hi ha obertes moltes l\u00ednies d&#8217;investigaci\u00f3 per a la seva aplicaci\u00f3 a tota mena de malalties.<\/p>\n\n\n\n<p>\u00c9s encara molt prompte perqu\u00e8 arribi als hospitals, llevat d&#8217;algunes excepcions, per\u00f2 els estudis sobre ella permeten pensar que en un futur m\u00e9s o menys proper constituir\u00e0 una opci\u00f3 de refer\u00e8ncia en la medicina.<\/p>\n\n\n\n<p><strong>Bibliografia<\/strong><br><a href=\"https:\/\/www.genome.gov\/es\/genetics-glossary\/Terapia-genica\">Natural Human Genome Research Institute: Ter\u00e0pia g\u00e8nica<\/a><br><a href=\"https:\/\/www.mayoclinic.org\/es\/tests-procedures\/gene-therapy\/about\/pac-20384619\">Mayo Clinic: Ter\u00e0pia g\u00e8nica<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>La ter\u00e0pia g\u00e8nica (o gen\u00e8tica) \u00e9s una t\u00e8cnica per corregir l&#8217;ADN del pacient d&#8217;una determinada malaltia o trastorn que consisteix a afegir un gen absent en les seves c\u00e8l\u00b7lules per tractar la malaltia en q\u00fcesti\u00f3 o per prevenir-la. Tamb\u00e9 s&#8217;utilitza reempla\u00e7ant un gen defectu\u00f3s o danyat. El gen corregeix la producci\u00f3 de prote\u00efnes que no [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":36794,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[15],"tags":[],"class_list":["post-36798","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-salut"],"featured_image_src":"https:\/\/www.mgc.es\/wp-content\/uploads\/2025\/10\/image-4-scaled.jpeg","author_info":{"display_name":"Revista Inter\u00e8s Mutu","author_link":"https:\/\/www.mgc.es\/ca\/blog\/author\/interesmutu\/"},"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.2 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Qu\u00e8 \u00e9s la ter\u00e0pia g\u00e8nica? 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