{"id":50100,"date":"2025-12-01T12:25:17","date_gmt":"2025-12-01T11:25:17","guid":{"rendered":"https:\/\/ellipse.prbb.org\/?p=50100"},"modified":"2025-12-01T12:24:53","modified_gmt":"2025-12-01T11:24:53","slug":"un-model-dia-revoluciona-el-diagnostic-de-malalties-minoritaries","status":"publish","type":"post","link":"https:\/\/ellipse.prbb.org\/ca\/un-model-dia-revoluciona-el-diagnostic-de-malalties-minoritaries\/","title":{"rendered":"Un model d&#8217;IA revoluciona el diagn\u00f2stic de malalties minorit\u00e0ries"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">Un <strong><a rel=\"noreferrer noopener\" href=\"https:\/\/ellipse.prbb.org\/ca\/fantasia-una-eina-dia-illumina-les-funcions-ocultes-de-24-milions-de-proteines\/\" target=\"_blank\">model d&#8217;IA<\/a><\/strong> innovador anomenat <strong>popEVE<\/strong>, desenvolupat per investigadors de la Facultat de Medicina de Harvard i del <a rel=\"noreferrer noopener\" href=\"http:\/\/www.crg.eu\/\" target=\"_blank\">Centre de Regulaci\u00f3 Gen\u00f2mica (CRG)<\/a>, promet <strong>transformar el <\/strong><a rel=\"noreferrer noopener\" href=\"https:\/\/ellipse.prbb.org\/ca\/diagnosticar-malalties-rares-mes-facil-que-mai\/\" target=\"_blank\"><strong>diagn\u00f2stic de malalties gen\u00e8tiques rares<\/strong> o <strong>minorit\u00e0ries<\/strong><\/a>. PopEVE utilitza<strong> dades evolutives<\/strong> de centenars de milers d&#8217;esp\u00e8cies, aix\u00ed com dades de variaci\u00f3 gen\u00e8tica a la poblaci\u00f3 humana, per identificar mutacions en prote\u00efnes humanes que poden causar malalties, fins i tot aquelles que no s&#8217;han vist mai abans. En comparar les seq\u00fc\u00e8ncies de prote\u00efnes humanes amb les d&#8217;altres esp\u00e8cies, <a rel=\"noreferrer noopener\" href=\"https:\/\/www.crg.eu\/en\/news\/ai-learns-tree-life-support-rare-disease-diagnosis\" target=\"_blank\">popEVE identifica quines parts de les aproximadament 20.000 prote\u00efnes humanes s\u00f3n essencials per a la vida i quines poden tolerar mutacions<\/a>. Aix\u00f2 permet que el model <strong>no nom\u00e9s detecti possibles mutacions causants de malalties, sin\u00f3 que tamb\u00e9 classifiqui la seva gravetat<\/strong>, oferint als metges una nova eina per prioritzar les mutacions m\u00e9s perilloses del genoma d&#8217;un pacient.<\/p>\n\n\n\n<div style=\"height:41px\" 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>Durant milers de milions d&#8217;anys, l&#8217;evoluci\u00f3 a la Terra ja ha dut a terme innombrables experiments, provant quins canvis pot tolerar una prote\u00efna i quins s\u00f3n massa perjudicials per sobreviure.<\/p><\/blockquote>\n\n\n\n<div style=\"height:41px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"wp-block-paragraph\">Aquest model \u00e9s particularment vital per a les <a href=\"https:\/\/ellipse.prbb.org\/ca\/un-nou-estudi-sobre-tango2-illumina-el-cami-duna-malaltia-minoritaria\/\" target=\"_blank\" rel=\"noreferrer noopener\">malalties minorit\u00e0ries<\/a>, on la meitat dels pacients no reben mai un diagn\u00f2stic clar. A difer\u00e8ncia dels m\u00e8todes tradicionals que es basen en grans cohorts de pacients, popEVE treballa amb dades gen\u00e8tiques individuals, fent-lo m\u00e9s r\u00e0pid, senzill i accessible, especialment en sistemes sanitaris amb recursos limitats. En identificar amb precisi\u00f3 les mutacions nocives, fins i tot en casos en qu\u00e8 no existeixen dades pr\u00e8vies, <strong>popEVE pot ajudar els metges a prendre decisions m\u00e9s informades sense necessitat d&#8217;ADN parental ni d&#8217;historials gen\u00e8tics <\/strong>extensos, diu <strong><a href=\"https:\/\/ellipse.prbb.org\/ca\/science-with-a-view-parlant-sobre-la-ia-en-biomedicina\/\" target=\"_blank\" rel=\"noreferrer noopener\">Mafalda-Dias<\/a><\/strong>, del CRG i una de les l\u00edders de l&#8217;estudi. En les proves, popEVE va identificar correctament les mutacions de malalties conegudes el 98% de les vegades i va descobrir nous gens candidats relacionats amb trastorns del desenvolupament.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">A m\u00e9s, popEVE <strong>aborda el problema de la <a href=\"https:\/\/ellipse.prbb.org\/ca\/un-important-pas-cap-a-la-comparticio-de-dades-genomiques-humanes\/\" target=\"_blank\" rel=\"noreferrer noopener\">manca de representaci\u00f3 i de diversitat <\/a><\/strong><a href=\"https:\/\/ellipse.prbb.org\/ca\/un-important-pas-cap-a-la-comparticio-de-dades-genomiques-humanes\/\" target=\"_blank\" rel=\"noreferrer noopener\">en les bases de dades gen\u00e8tiques<\/a>, on la majoria de les dades provenen d&#8217;ascend\u00e8ncia europea. En preguntar si una mutaci\u00f3 s&#8217;ha vist abans en humans, independentment de si \u00e9s una vegada en <a href=\"https:\/\/ellipse.prbb.org\/ca\/la-definicio-de-ser-gitano\/\" target=\"_blank\" rel=\"noreferrer noopener\">una poblaci\u00f3 espec\u00edfica <\/a>o mil vegades en poblacions europees sobrerepresentades, garanteix que totes les poblacions siguin considerades per igual, independentment de la seva ascend\u00e8ncia.<\/p>\n\n\n\n<div style=\"height:34px\" 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>\u00abNing\u00fa hauria d&#8217;obtenir un resultat alarmant nom\u00e9s perqu\u00e8 la seva comunitat no estigui ben representada a les bases de dades globals. popEVE ajuda a solucionar aquest desequilibri, que ha existit al camp durant molt de temps\u00bb<\/em><br><em>&nbsp;<strong>Jonathan Frazer<\/strong>, un dels l\u00edders de l&#8217;article (CRG)<\/em><\/p><\/blockquote>\n\n\n\n<div style=\"height:51px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"wp-block-paragraph\">En l&#8217;estudi, popEVE va descobrir 123 mutacions que mai abans s&#8217;havien relacionat amb trastorns del desenvolupament; 104 d&#8217;aquestes es van observar en nom\u00e9s un o dos pacients.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Aquest desenvolupament promet revolucionar els <strong>diagn\u00f2stics gen\u00e8tics<\/strong>, fent-los <strong>m\u00e9s equitatius i eficients<\/strong>.<\/p>\n\n\n\n<div style=\"height:100px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n","protected":false},"excerpt":{"rendered":"<p>Investigadors del CRG han col\u00b7laborat amb un equip de Harvard per desenvolupar popEVE, una eina d&#8217;intel\u00b7lig\u00e8ncia artificial que ha estat capa\u00e7 de detectar 123 noves mutacions causants de malalties; 104 d&#8217;elles s&#8217;han observat nom\u00e9s en un o dos pacients.<\/p>\n","protected":false},"author":6,"featured_media":50089,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[26],"tags":[265,859,951],"new-type":[35],"class_list":["post-50100","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-recerca","tag-crg-ca","tag-ia","tag-malalties-minoritaries","new-type-noticies"],"acf":[],"_links":{"self":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/50100","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=50100"}],"version-history":[{"count":5,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/50100\/revisions"}],"predecessor-version":[{"id":50112,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/50100\/revisions\/50112"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/media\/50089"}],"wp:attachment":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/media?parent=50100"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/categories?post=50100"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/tags?post=50100"},{"taxonomy":"new-type","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/new-type?post=50100"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}