{"id":52253,"date":"2026-08-18T09:24:34","date_gmt":"2026-08-18T07:24:34","guid":{"rendered":"https:\/\/ellipse.prbb.org\/?p=52253"},"modified":"2026-08-18T09:24:36","modified_gmt":"2026-08-18T07:24:36","slug":"endinsant-nos-en-les-mutacions-genetiques","status":"publish","type":"post","link":"https:\/\/ellipse.prbb.org\/ca\/endinsant-nos-en-les-mutacions-genetiques\/","title":{"rendered":"Endinsant-nos en les mutacions gen\u00e8tiques"},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">L&#8217;ADN cont\u00e9 la informaci\u00f3 gen\u00e8tica que permet que les c\u00e8l\u00b7lules funcionin i que els trets es transmetin d&#8217;una generaci\u00f3 a la seg\u00fcent. Per\u00f2 aquesta informaci\u00f3 no \u00e9s est\u00e0tica. Al llarg de la vida, el nostre <strong>genoma acumula canvis coneguts com a mutacions<\/strong>: algunes inofensives, altres relacionades amb malalties. Entendre com i per qu\u00e8 sorgeixen aquestes mutacions \u00e9s fonamental en camps que van des de la biologia evolutiva fins a la recerca sobre el c\u00e0ncer.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Al tercer episodi de la segona temporada de <em>\u00abScience With A View\u00bb<\/em>, explorem aquest tema amb <a href=\"https:\/\/ellipse.prbb.org\/ca\/els-premis-i-els-reconeixements-inunden-el-prbb\/\" target=\"_blank\" rel=\"noopener noreferrer\"><strong>Marc de Manuel<\/strong><\/a>, investigador principal del grup de Din\u00e0mica de Mutacions a l\u2019<a href=\"https:\/\/www.ibe.upf-csic.es\/\" target=\"_blank\" rel=\"noopener noreferrer\">Institut de Biologia Evolutiva (IBE: CSIC-UPF)<\/a>, i <strong>Donate Weghorn<\/strong>, responsable del grup de <a href=\"https:\/\/www.weghornlab.org\/\" target=\"_blank\" rel=\"noopener noreferrer\">Biologia computacional i gen\u00f2mica de la salut<\/a> del <a href=\"https:\/\/www.crg.eu\/en\" target=\"_blank\" rel=\"noopener noreferrer\">Centre de Regulaci\u00f3 Gen\u00f2mica (CRG)<\/a>. En Marc estudia com sorgeixen les mutacions en c\u00e8l\u00b7lules germinals i som\u00e0tiques, incloent-hi per qu\u00e8 les taxes de mutaci\u00f3 difereixen entre sexes. I la Donate desenvolupa models computacionals per predir on i amb quina freq\u00fc\u00e8ncia es produeixen mutacions al llarg del genoma. Junts, examinen com les mutacions modelen l&#8217;evoluci\u00f3 i contribueixen a malalties com el c\u00e0ncer.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Els aven\u00e7os tecnol\u00f2gics estan accelerant els descobriments en aquest camp. Els m\u00e8todes de seq\u00fcenciaci\u00f3 d&#8217;alta precisi\u00f3, incloent-hi la seq\u00fcenciaci\u00f3 d\u00faplex, ara permeten als investigadors detectar mutacions rares i estudiar sistemes abans inaccessibles, proporcionant noves perspectives sobre com s&#8217;acumulen els canvis gen\u00e8tics amb el temps.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">L&#8217;episodi tamb\u00e9 aborda els reptes de les <strong>carreres acad\u00e8miques<\/strong>. Qu\u00e8 significa crear un grup de recerca amb contractes de durada determinada? Com gestionen els investigadors i investigadores principals, en les seves primeres etapes, la pressi\u00f3 de finan\u00e7ament i les demandes de publicaci\u00f3? A la secci\u00f3 \u00abLa veu del PRBB\u00bb, la nostra comunitat reflexiona sobre si els sistemes d&#8217;avaluaci\u00f3 actuals reconeixen les qualitats adequades i com fer que les carreres cient\u00edfiques siguin m\u00e9s viables a llarg termini.<\/p>\n\n\n\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"wp-block-paragraph\">Escolta ara aquest episodi de <em>\u00abScience With A View\u00bb<\/em> i digueu-nos als comentaris: creieu que el m\u00f3n acad\u00e8mic valora el que hauria de fer quan es tracta de promoure el personal de recerca?<\/p>\n\n\n\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<figure class=\"wp-block-embed-spotify wp-block-embed is-type-rich is-provider-spotify wp-embed-aspect-21-9 wp-has-aspect-ratio\"><div class=\"wp-block-embed__wrapper\">\n<iframe title=\"Spotify Embed: Mutations\" style=\"border-radius: 12px\" width=\"100%\" height=\"152\" frameborder=\"0\" allowfullscreen allow=\"autoplay; clipboard-write; encrypted-media; fullscreen; picture-in-picture\" loading=\"lazy\" src=\"https:\/\/open.spotify.com\/embed\/episode\/25YX8BI0F62iP7OgD1Pehe?si=d7d4ce9ff46e48e8&amp;utm_source=oembed\"><\/iframe>\n<\/div><\/figure>\n\n\n\n<div style=\"height:46px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n","protected":false},"excerpt":{"rendered":"<p>Marc de Manuel (IBE) i Donate Weghorn (CRG) es reuneixen per endinsar-se en el m\u00f3n de la gen\u00e8tica i les mutacions i parlar sobre carreres en el camp de la recerca en el tercer episodi de la segona temporada de \u00abScience With A View\u00bb.<\/p>\n","protected":false},"author":29,"featured_media":50656,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[30,28],"tags":[275,555,265,211,764,617,938],"new-type":[35],"class_list":["post-52253","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-ciencia-i-societat","category-comunitat","tag-adn","tag-arn","tag-crg-ca","tag-ibe-csic-upf","tag-podcast","tag-somprbb","tag-swav-ca","new-type-noticies"],"acf":[],"_links":{"self":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/52253","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\/29"}],"replies":[{"embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/comments?post=52253"}],"version-history":[{"count":3,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/52253\/revisions"}],"predecessor-version":[{"id":52256,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/posts\/52253\/revisions\/52256"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/media\/50656"}],"wp:attachment":[{"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/media?parent=52253"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/categories?post=52253"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/tags?post=52253"},{"taxonomy":"new-type","embeddable":true,"href":"https:\/\/ellipse.prbb.org\/ca\/wp-json\/wp\/v2\/new-type?post=52253"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}