{"id":2441,"date":"2014-09-10T00:00:00","date_gmt":"2014-09-10T00:00:00","guid":{"rendered":"https:\/\/blog.caixaresearch.org\/?p=2441"},"modified":"2020-04-30T09:10:31","modified_gmt":"2020-04-30T09:10:31","slug":"larxiu-europeu-del-genoma-fenoma-conte-dades-de-100-000-persones-i-mes-de-700-estudis-cientifics","status":"publish","type":"post","link":"https:\/\/blog.caixaresearch.org\/ca\/larxiu-europeu-del-genoma-fenoma-conte-dades-de-100-000-persones-i-mes-de-700-estudis-cientifics\/","title":{"rendered":"L&#8217;Arxiu Europeu del Genoma-Fenoma cont\u00e9 dades de 100.000 persones i m\u00e9s de 700 estudis cient\u00edfics"},"content":{"rendered":"<p><html><body><\/p>\n<div class=\"post_content\">\n<p style=\"text-align: justify;\"> <span style=\"font-size: 11px; line-height: 1.4;\">Per <strong>Montserrat Capdevila Freixas<\/strong>, \u00c0rea de Ci\u00e8ncia i Medi Ambient d&#8217;Obra Social &#8220;la Caixa&#8221;.<\/span><\/p>\n<p style=\"text-align: justify;\"> L&#8217;Arxiu Europeu del Genoma-Fenoma (EGA, per les seves sigles en angl\u00e8s) emmagatzema <strong>dades de 100.000 persones<\/strong>, de <strong>m\u00e9s de 700 estudis<\/strong> cient\u00edfics de diverses malalties, com ara <strong>cardiopaties, c\u00e0ncers, Alzheimer, malalties autoimmunes, diabetis i esclerosi m\u00faltiple<\/strong>, entre d&#8217;altres. Aquestes <strong>dades procedeixen de 200 centres i grups d&#8217;investigaci\u00f3 d&#8217;arreu del m\u00f3n<\/strong> i constitueixen un recurs fonamental per potenciar la recerca en <strong><a href=\"http:\/\/www20.gencat.cat\/portal\/site\/canalsalut\/menuitem.dbb85aa2c955c7c3ba963bb4b0c0e1a0\/?vgnextoid=3cf9982ce193c310VgnVCM2000009b0c1e0aRCRD&amp;vgnextchannel=3cf9982ce193c310VgnVCM2000009b0c1e0aRCRD&amp;vgnextfmt=default&amp;contentid=36a7a4342193c310VgnVCM2000009b0c1e0aRCRD\" rel=\"noopener noreferrer\" target=\"_blank\">medicina personalitzada<\/a><\/strong>.<\/p>\n<p style=\"text-align: justify;\"> L&#8217;arxiu cont\u00e9 <strong>dades<\/strong> relatives a informaci\u00f3 sobre variants gen\u00f2miques aportades per individus que presenten fenotips de malalties i per individus sans. El volum total de les dades, que actualment \u00e9s d&#8217;aproximadament un mili\u00f3 de gigabits (GB) un cop comprimides i que es preveu que es tripliqui en els pr\u00f2xims dotze mesos, s&#8217;emmagatzemar\u00e0 a les instal\u00b7lacions del <a href=\"http:\/\/www.bsc.es\/es\" rel=\"noopener noreferrer\" target=\"_blank\">Barcelona Supercomputing Center (BSC-CNS)<\/a> i s&#8217;analitzar\u00e0 posteriorment amb el supercomputador MareNostrum, a Barcelona. L&#8217;acc\u00e9s a l&#8217;arxiu es podr\u00e0 fer de manera digital i gratu\u00efta, per\u00f2 requerir\u00e0 comprovar les dades personals de l&#8217;investigador i del centre de recerca, aix\u00ed com del comit\u00e8 d&#8217;\u00e8tica implicat, amb la finalitat de garantir el bon \u00fas de la informaci\u00f3 i la confidencialitat de les dades dels donants humans que han participat en estudis gen\u00e8tics.<\/p>\n<p style=\"text-align: justify;\"> Per poder <strong>estudiar algunes malalties<\/strong> i de quina manera s&#8217;expressen en els gens cal la comparaci\u00f3 gen\u00f2mica-fen\u00f2mica entre individus. El <strong>fenoma<\/strong> d&#8217;un individu \u00e9s la suma de l&#8217;expressi\u00f3 dels seus gens modulada per la interacci\u00f3 amb el medi i factors com la nutrici\u00f3, els agents infecciosos i la llum, entre d&#8217;altres. Actualment ja s&#8217;han identificat al voltant de tres milions de localitzacions en el genoma en qu\u00e8 hi ha difer\u00e8ncies d&#8217;ADN, fet que promet revolucionar el processos de recerca relacionats amb diverses malalties com <strong>cardiopaties<\/strong>, <strong>c\u00e0ncers<\/strong> i <strong>Alzheimer<\/strong>, entre d&#8217;altres, ja que permetr\u00e0 l&#8217;avan\u00e7 de la <strong>medicina<\/strong> <strong>personalitzada<\/strong>, que busca l&#8217;administraci\u00f3 dels millors f\u00e0rmacs i les dosis m\u00e9s segures i efectives segons cada pacient.<\/p>\n<p style=\"text-align: justify;\"> El projecte EGA, liderat pel <a href=\"http:\/\/www.crg.eu\" rel=\"noopener noreferrer\" target=\"_blank\">Centre de Regulaci\u00f3 Gen\u00f2mica<\/a>, s&#8217;executar\u00e0 els propers quatre anys gr\u00e0cies al suport de la <a href=\"http:\/\/web.gencat.cat\/ca\/inici\/index.html\" rel=\"noopener noreferrer\" target=\"_blank\">Generalitat de Catalunya<\/a>, el <a href=\"http:\/\/www.mineco.es\" rel=\"noopener noreferrer\" target=\"_blank\">Ministeri d&#8217;Economia i Competitivitat<\/a> (a trav\u00e9s del programa de Centres d&#8217;Excel\u00b7l\u00e8ncia Severo Ochoa) i l&#8217;<a href=\"http:\/\/obrasocial.lacaixa.es\/home\/obrasocial2_ca.html\" rel=\"noopener noreferrer\" target=\"_blank\">Obra Social &#8220;la Caixa<\/a>&#8220;.<\/p>\n<\/p><\/div>\n<p><\/body><\/html><\/p>\n","protected":false},"excerpt":{"rendered":"<\/p>\n<p style=\"text-align: justify;\"> Per Montserrat Capdevila Freixas, \u00c0rea de Ci\u00e8ncia i Medi Ambient d&#8217;Obra Social &#8220;la Caixa&#8221;.<\/p>\n<p style=\"text-align: justify;\"> L&#8217;Arxiu Europeu del Genoma-Fenoma (EGA, per les seves sigles en angl\u00e8s) emmagatzema dades de 100.000 persones, de m\u00e9s de 700 estudis cient\u00edfics de diverses malalties, com ara cardiopaties, c\u00e0ncers, Alzheimer, malalties autoimmunes, diabetis i esclerosi m\u00faltiple, entre d&#8217;altres. Aquestes dades procedeixen de 200 centres i grups d&#8217;investigaci\u00f3 d&#8217;arreu del m\u00f3n i constitueixen un recurs fonamental per potenciar la recerca en <a href=\"http:\/\/www20.gencat.cat\/portal\/site\/canalsalut\/menuitem.dbb85aa2c955c7c3ba963bb4b0c0e1a0\/?vgnextoid=3cf9982ce193c310VgnVCM2000009b0c1e0aRCRD&amp;vgnextchannel=3cf9982ce193c310VgnVCM2000009b0c1e0aRCRD&amp;vgnextfmt=default&amp;contentid=36a7a4342193c310VgnVCM2000009b0c1e0aRCRD\" rel=\"noopener noreferrer\" target=\"_blank\">medicina personalitzada<\/a>.<\/p>\n<p style=\"text-align: justify;\"> L&#8217;arxiu cont\u00e9 dades relatives a informaci\u00f3 sobre variants gen\u00f2miques aportades per individus que presenten fenotips de malalties i per individus sans. El volum total de les dades, que actualment \u00e9s d&#8217;aproximadament un mili\u00f3 de gigabits (GB) un cop comprimides i que es preveu que es tripliqui en els pr\u00f2xims dotze mesos,<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[519],"tags":[],"class_list":["post-2441","post","type-post","status-publish","format-standard","hentry","category-investigacio"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v24.7 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>L&#039;Arxiu Europeu del Genoma-Fenoma cont\u00e9 dades de 100.000 persones i m\u00e9s de 700 estudis cient\u00edfics - Blog CaixaCi\u00e8ncia<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blog.caixaresearch.org\/ca\/larxiu-europeu-del-genoma-fenoma-conte-dades-de-100-000-persones-i-mes-de-700-estudis-cientifics\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"L&#039;Arxiu Europeu del Genoma-Fenoma cont\u00e9 dades de 100.000 persones i m\u00e9s de 700 estudis cient\u00edfics - Blog CaixaCi\u00e8ncia\" \/>\n<meta property=\"og:description\" content=\"Per Montserrat Capdevila Freixas, \u00c0rea de Ci\u00e8ncia i Medi Ambient d&#8217;Obra Social &#8220;la Caixa&#8221;. L&#8217;Arxiu Europeu del Genoma-Fenoma (EGA, per les seves sigles en angl\u00e8s) emmagatzema dades de 100.000 persones, de m\u00e9s de 700 estudis cient\u00edfics de diverses malalties, com ara cardiopaties, c\u00e0ncers, Alzheimer, malalties autoimmunes, diabetis i esclerosi m\u00faltiple, entre d&#8217;altres. Aquestes dades procedeixen de 200 centres i grups d&#8217;investigaci\u00f3 d&#8217;arreu del m\u00f3n i constitueixen un recurs fonamental per potenciar la recerca en medicina personalitzada. L&#8217;arxiu cont\u00e9 dades relatives a informaci\u00f3 sobre variants gen\u00f2miques aportades per individus que presenten fenotips de malalties i per individus sans. 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