{"id":49214,"date":"2025-08-12T13:05:13","date_gmt":"2025-08-12T11:05:13","guid":{"rendered":"https:\/\/ellipse.prbb.org\/?p=49214"},"modified":"2025-08-12T13:04:45","modified_gmt":"2025-08-12T11:04:45","slug":"3000-gens-per-entendre-lautisme-i-altres-trastorns-neurologics","status":"publish","type":"post","link":"https:\/\/ellipse.prbb.org\/ca\/3000-gens-per-entendre-lautisme-i-altres-trastorns-neurologics\/","title":{"rendered":"3000 gens per entendre l&#8217;autisme i altres trastorns neurol\u00f2gics"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">Segons un <a href=\"https:\/\/www.upf.edu\/web\/focus\/w\/origen-malalties-neuropsiquiatriques\" target=\"_blank\" rel=\"noreferrer noopener\">estudi <\/a>recent coliderat per investigadors de la Universitat de Yale i <strong>Gabriel Santpere<\/strong> del <a rel=\"noreferrer noopener\" href=\"http:\/\/www.imim.es\/\" target=\"_blank\">Hospital del Mar Research Institute<\/a>, les malalties neuropsiqui\u00e0triques, com <strong>l&#8217;autisme, el trastorn bipolar o la depressi\u00f3<\/strong>, aix\u00ed com algunes malalties neurodegeneratives com<strong> l&#8217;Alzheimer i el Parkinson<\/strong>, poden tenir el seu<strong> origen en les primeres etapes de la formaci\u00f3 cerebral del fetus<\/strong>.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Els investigadors del PRBB, que formen part del Programa de <a rel=\"noreferrer noopener\" href=\"https:\/\/grib.upf.edu\/\" target=\"_blank\">Recerca en Inform\u00e0tica Biom\u00e8dica<\/a>, un grup conjunt del Hospital del Mar Research Institute i la Universitat Pompeu Fabra, van utilitzar una llista de<strong> prop de 3.000 gens vinculats a malalties neuropsiqui\u00e0triques, patologies neurodegeneratives i malformacions corticals<\/strong>, i van simular l&#8217;efecte de la seva alteraci\u00f3 sobre les c\u00e8l\u00b7lules implicades en el desenvolupament cerebral.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Per fer-ho, van combinar m\u00faltiples<strong> dades de cervells humans i<a rel=\"noreferrer noopener\" href=\"https:\/\/ellipse.prbb.org\/into-the-depths-of-the-mouse-brain\/\" target=\"_blank\"> <\/a><a rel=\"noreferrer noopener\" href=\"https:\/\/ellipse.prbb.org\/ca\/en-les-profunditats-del-cervell-de-ratoli\/\" target=\"_blank\">cervells de ratol\u00ed,<\/a><\/strong> aix\u00ed com <strong>cultius <em>in vitro<\/em> de<em> <\/em>c\u00e8l\u00b7lules mare neurals <\/strong>.<\/p>\n\n\n\n<div style=\"height:52px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\"><p><em>\u00abMolts dels gens implicats en els trastorns mentals poden estar ja actius i alterats durant el desenvolupament cerebral, de manera que afavoreix els trastorns mentals m\u00e9s endavant\u00bb<\/em><\/p><\/blockquote>\n\n\n\n<div style=\"height:46px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"wp-block-paragraph\"><a href=\"https:\/\/www.upf.edu\/web\/focus\/w\/origen-malalties-neuropsiquiatriques\" target=\"_blank\" rel=\"noreferrer noopener\">L&#8217;estudi <\/a>tamb\u00e9 va identificar quan i en quins tipus cel\u00b7lulars l&#8217;acci\u00f3 d&#8217;aquests gens era m\u00e9s rellevant, explica <strong>Xoel Mato-Blanco<\/strong>, primer autor del treball i investigador del Hospital del Mar Research Institute.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Entendre aquests mecanismes i el paper de cada gen en cada malaltia pot <strong>ajudar a desenvolupar ter\u00e0pies dirigides <\/strong>que actu\u00efn sobre ells, obrint oportunitats per a la <strong>ter\u00e0pia g\u00e8nica i tractaments personalitzats<\/strong>.<\/p>\n\n\n\n<div style=\"height:57px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n","protected":false},"excerpt":{"rendered":"<p>Una col\u00b7laboraci\u00f3 entre investigadors del PRBB i de la Universitat de Yale mostra com alteracions gen\u00e8tiques que es produeixen durant el neurodesenvolupament primerenc es poden traduir en patologies neurol\u00f2giques m\u00e9s endavant en la vida.<\/p>\n","protected":false},"author":6,"featured_media":49208,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[26],"tags":[320,263,213,406,231,358],"new-type":[35],"class_list":["post-49214","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-recerca","tag-alzheimer","tag-cervell","tag-imim","tag-neurodesenvolupament","tag-parkinson","tag-upf-ca","new-type-noticies"],"acf":[],"_links":{"self":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/49214","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/comments?post=49214"}],"version-history":[{"count":5,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/49214\/revisions"}],"predecessor-version":[{"id":49228,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/49214\/revisions\/49228"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/media\/49208"}],"wp:attachment":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/media?parent=49214"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/categories?post=49214"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/tags?post=49214"},{"taxonomy":"new-type","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/new-type?post=49214"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}