{"id":391,"date":"2025-03-27T06:25:26","date_gmt":"2025-03-27T05:25:26","guid":{"rendered":"https:\/\/www.neuromuscularbcn.org\/?page_id=391"},"modified":"2025-04-30T06:51:03","modified_gmt":"2025-04-30T04:51:03","slug":"registre-de-malalties-genetiques-i-de-baixa-prevalenca-genrare","status":"publish","type":"page","link":"https:\/\/www.neuromuscularbcn.org\/ca\/registres\/registre-de-malalties-genetiques-i-de-baixa-prevalenca-genrare\/","title":{"rendered":"Registre de Malalties Gen\u00e8tiques i de Baixa Prevalen\u00e7a (GENRARE)"},"content":{"rendered":"<div class=\"fusion-fullwidth fullwidth-box fusion-builder-row-1 fusion-flex-container has-pattern-background has-mask-background nonhundred-percent-fullwidth non-hundred-percent-height-scrolling\" style=\"--awb-border-radius-top-left:0px;--awb-border-radius-top-right:0px;--awb-border-radius-bottom-right:0px;--awb-border-radius-bottom-left:0px;--awb-flex-wrap:wrap;\" ><div class=\"fusion-builder-row fusion-row fusion-flex-align-items-flex-start fusion-flex-content-wrap\" style=\"max-width:1422.72px;margin-left: calc(-4% \/ 2 );margin-right: calc(-4% \/ 2 );\"><div class=\"fusion-layout-column fusion_builder_column fusion-builder-column-0 fusion_builder_column_1_1 1_1 fusion-flex-column cnt_PagGen_Content_col\" style=\"--awb-bg-size:cover;--awb-width-large:100%;--awb-margin-top-large:0px;--awb-spacing-right-large:1.92%;--awb-margin-bottom-large:0px;--awb-spacing-left-large:1.92%;--awb-width-medium:100%;--awb-order-medium:0;--awb-spacing-right-medium:1.92%;--awb-spacing-left-medium:1.92%;--awb-width-small:100%;--awb-order-small:0;--awb-spacing-right-small:1.92%;--awb-spacing-left-small:1.92%;\" data-scroll-devices=\"small-visibility,medium-visibility,large-visibility\"><div class=\"fusion-column-wrapper fusion-column-has-shadow fusion-flex-justify-content-flex-start fusion-content-layout-column\"><div class=\"fusion-tabs fusion-tabs-1 classic nav-is-justified cnt_pestanas horizontal-tabs icon-position-left mobile-mode-carousel mobile-sticky-tabs\" style=\"--awb-title-border-radius-top-left:0px;--awb-title-border-radius-top-right:0px;--awb-title-border-radius-bottom-right:0px;--awb-title-border-radius-bottom-left:0px;--awb-alignment:start;--awb-inactive-color:#ffffff;--awb-background-color:var(--awb-color1);--awb-border-color:#ffffff;--awb-active-border-color:var(--awb-color5);\"><div class=\"nav\"><ul class=\"nav-tabs nav-justified\" role=\"tablist\"><li class=\"active\" role=\"presentation\"><a class=\"tab-link\" data-toggle=\"tab\" role=\"tab\" aria-controls=\"tab-1575e22e0322d95e82b\" aria-selected=\"true\" id=\"fusion-tab-resum\" href=\"#tab-1575e22e0322d95e82b\"><h4 class=\"fusion-tab-heading\">RESUM<\/h4><\/a><\/li><li role=\"presentation\"><a class=\"tab-link\" data-toggle=\"tab\" role=\"tab\" aria-controls=\"tab-26014d2f4988bd0fdd0\" aria-selected=\"false\" tabindex=\"-1\" id=\"fusion-tab-objectius\" href=\"#tab-26014d2f4988bd0fdd0\"><h4 class=\"fusion-tab-heading\">OBJECTIUS<\/h4><\/a><\/li><li role=\"presentation\"><a class=\"tab-link\" data-toggle=\"tab\" role=\"tab\" aria-controls=\"tab-5acf4534e09f09426a7\" aria-selected=\"false\" tabindex=\"-1\" id=\"fusion-tab-explotaci\u00d3delesdades\" href=\"#tab-5acf4534e09f09426a7\"><h4 class=\"fusion-tab-heading\">EXPLOTACI\u00d3 DE LES DADES<\/h4><\/a><\/li><li role=\"presentation\"><a class=\"tab-link\" data-toggle=\"tab\" role=\"tab\" aria-controls=\"tab-f826a6ba24557e9dbbf\" aria-selected=\"false\" tabindex=\"-1\" id=\"fusion-tab-comparticiparalregistre\" href=\"#tab-f826a6ba24557e9dbbf\"><h4 class=\"fusion-tab-heading\">COM PARTICIPAR AL REGISTRE<\/h4><\/a><\/li><\/ul><\/div><div class=\"tab-content\"><div class=\"tab-pane fade fusion-clearfix in active\" role=\"tabpanel\" tabindex=\"0\" aria-labelledby=\"fusion-tab-resum\" id=\"tab-1575e22e0322d95e82b\">\n<h6 id=\"tit_anclaje0\" class=\"anclaje_btn_cab\">RESUM<\/h6>\n<p>El \u201cRegistre de Malalties Gen\u00e8tiques i de baixa prevalen\u00e7a (GenRaRe)\u201d, el promotor del qual \u00e9s el Centre de Recerca Biom\u00e8dica en Xarxa (CIBER), \u00e9s un registre de malalties rares. Aquest registre est\u00e0 format per diferents subregistres, on cada subregistre est\u00e0 destinat a una malaltia o conjunt de malalties rares en concret. Aquest registre compta amb la col\u00b7laboraci\u00f3 i experi\u00e8ncia de diversos grups del CIBERER.<\/p>\n<p>El \u201cRegistre de Malalties Gen\u00e8tiques i de baixa prevalen\u00e7a (GenRaRe)\u201d pret\u00e9n aglutinar tots els registres realitzats per grups CIBERER sobre malalties gen\u00e8tiques i de baixa prevalen\u00e7a. T\u00e9 un enfocament ampli i est\u00e0 orientat a ser un registre cl\u00ednic per poder dur a terme projectes de recerca amb les dades contingudes. Cal destacar que \u00e9s un projecte col\u00b7laboratiu que t\u00e9 una vocaci\u00f3 internacional.<\/div><div class=\"tab-pane fade fusion-clearfix\" role=\"tabpanel\" tabindex=\"0\" aria-labelledby=\"fusion-tab-objectius\" id=\"tab-26014d2f4988bd0fdd0\">\n<h6 id=\"tit_anclaje1\" class=\"anclaje_btn_cab\">OBJECTIUS<\/h6>\n<p>El principal objectiu d&#8217;aquest registre \u00e9s la realitzaci\u00f3 de projectes de recerca amb les dades contingudes al registre, fet molt dif\u00edcil a la pr\u00e0ctica cl\u00ednica habitual d&#8217;aquestes malalties a causa de les caracter\u00edstiques demogr\u00e0fiques d&#8217;aquestes malalties.<\/p>\n<p>Com a objectius secundaris tamb\u00e9 s\u201festableixen recollir de manera fiable les dades cl\u00edniques dels pacients amb diferents patologies gen\u00e8tiques i de baixa prevalen\u00e7a, potenciar la participaci\u00f3 de centres hospitalaris i centres de recerca i facilitar l\u201facc\u00e9s a nous tractaments de pacients amb patologia gen\u00e8tica i de baixa prevalen\u00e7a.<\/p>\n<\/div><div class=\"tab-pane fade fusion-clearfix\" role=\"tabpanel\" tabindex=\"0\" aria-labelledby=\"fusion-tab-explotaci\u00d3delesdades\" id=\"tab-5acf4534e09f09426a7\">\n<h6 id=\"tit_anclaje2\" class=\"anclaje_btn_cab\">EXPLOTACI\u00d3 DE LES DADES<\/h6>\n<ul>\n<li>Malaltia de Pompe: <em><strong>106 pacients<\/strong><\/em><\/li>\n<li>Malaltia Polineuropatia amiloid\u00f2tica familiar: <em><strong>82 pacients<\/strong><\/em><\/li>\n<li>Malalties mitocondrials: <em><strong>82 pacients<\/strong><\/em><\/li>\n<\/ul>\n<div id=\"gtx-trans\" style=\"position: absolute; left: 290px; top: 88.0156px;\">\n<div class=\"gtx-trans-icon\"><\/div>\n<\/div>\n<\/div><div class=\"tab-pane fade fusion-clearfix\" role=\"tabpanel\" tabindex=\"0\" aria-labelledby=\"fusion-tab-comparticiparalregistre\" id=\"tab-f826a6ba24557e9dbbf\">\n<h6 id=\"tit_anclaje3\" class=\"anclaje_btn_cab\">COM PARTICIPAR AL REGISTRE<\/h6>\n<p><em><strong>\u00bfVols sol\u00b7licitar la creaci\u00f3 d&#8217;un subregistre nou?<\/strong><\/em><br \/>\nSi ets un investigador interessat a crear un subregistre has d&#8217;emplenar el seg\u00fcent formulari i rebr\u00e0s resposta per part de l&#8217;equip de coordinaci\u00f3 del projecte:<br \/>\n<a href=\"https:\/\/tinyurl.com\/GenRaRe\" target=\"_blank\" rel=\"noopener\">https:\/\/tinyurl.com\/GenRaRe<\/a><\/p>\n<h4><\/h4>\n<p><em><strong>Ets investigador i vols participar en un registre ja existent?<\/strong><\/em><br \/>\nPosa&#8217;t en contacte amb <a href=\"mailto:genrare@ciberer.es\">genrare@ciberer.es<\/a><\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div><\/div>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":1,"featured_media":0,"parent":383,"menu_order":1,"comment_status":"closed","ping_status":"closed","template":"100-width.php","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"class_list":["post-391","page","type-page","status-publish","hentry"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.2 - 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