{"id":10699,"date":"2015-10-22T00:00:00","date_gmt":"2015-10-21T22:00:00","guid":{"rendered":"https:\/\/idibell.cat\/es\/blog\/2015\/10\/22\/la-plataforma-precipita-recauda-fondos-para-la-investigacion-en-el-sindrome-de-cornelia-de-lange-en-el-idibell\/"},"modified":"2020-05-20T15:05:44","modified_gmt":"2020-05-20T13:05:44","slug":"la-plataforma-precipita-recauda-fondos-para-la-investigacion-en-el-sindrome-de-cornelia-de-lange-en-el-idibell","status":"publish","type":"post","link":"https:\/\/idibell.cat\/es\/2015\/10\/la-plataforma-precipita-recauda-fondos-para-la-investigacion-en-el-sindrome-de-cornelia-de-lange-en-el-idibell\/","title":{"rendered":"La plataforma Precipita recauda fondos para la investigaci\u00f3n en el s\u00edndrome de Cornelia de Lange en el IDIBELL"},"content":{"rendered":"<p>El s\u00edndrome de Cornelia de Lange (CDLS) es una enfermedad rara muy severa caracterizada por un retraso mental y de crecimiento y un dimorfismo facial caracter\u00edstico. En los casos m\u00e1s graves, hay falta total o parcial de las extremidades superiores y tienen carencias psicomotoras por lo que en muchos casos no llegan a caminar. <b><br \/> El grupo de investigaci\u00f3n en ciclo celular del Instituto de Investigaci\u00f3n Biom\u00e9dica de Bellvitge (IDIBELL), liderado por Ethel Queralt, estudia las alteraciones gen\u00f3micas de la CDLS con el objetivo de encontrar marcadores que permitan hacer un diagn\u00f3stico prenatal y , tal vez en el futuro, desarrollar tratamientos de terapia g\u00e9nica para controlar la enfermedad. <b><br \/> La campa\u00f1a iniciada en la plataforma de crowdfunding Precipita tiene como objetivo recaudar 25.000 euros para avanzar en el estudio de las causas moleculares del CDLS a nivel molecular e<b><br \/><span style=\"font-size: 12px\">identificar posibles dianas terap\u00e9uticas. Los resultados preliminares del grupo de Queralt indican que muchos de los s\u00edntomas asociados a los pacientes de esta enfermedad se deben a cambios en la expresi\u00f3n g\u00e9nica. Para entender las bases moleculares de este s\u00edndrome se realizar\u00e1n estudios de expresi\u00f3n g\u00e9nica en pacientes. Esto ser\u00e1 determinante para identificar genes que tienen una expresi\u00f3n diferencial en los enfermos y que ser\u00e1n la base para desarrollar nuevas terapias.<\/span> <b><br \/> La campa\u00f1a est\u00e1 abierta hasta el once de enero de 2016 y puede colaborar desde este enlace: <a class=\"enllac\" href=\"http:\/\/www.precipita.es\/proyecto\/el-sindrome-de-cornelia-de-lange.html\" target=\"_blank\" rel=\"noopener noreferrer\">Precipita s\u00edndrome Cornelia de Lange<\/a><b><\/p>\n","protected":false},"excerpt":{"rendered":"<p>El s\u00edndrome de Cornelia de Lange (CDLS) es una enfermedad rara muy severa caracterizada por un retraso mental y de crecimiento y un dimorfismo facial caracter\u00edstico. En los casos m\u00e1s graves, hay falta total o parcial de las extremidades superiores y tienen carencias psicomotoras por lo que en muchos casos no llegan a caminar. El [&hellip;]<\/p>\n","protected":false},"author":6,"featured_media":10700,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"no-sidebar","site-content-layout":"page-builder","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"default","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[184,301,281],"tags":[],"class_list":["post-10699","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-area-cancer","category-ciclo-celular","category-programa-de-mecanismos-moleculares-y-terapia-experimental-en-oncologia-oncobell"],"publishpress_future_action":{"enabled":false,"date":"2025-05-02 13:31:20","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts\/10699","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/comments?post=10699"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts\/10699\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/media\/10700"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/media?parent=10699"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/categories?post=10699"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/tags?post=10699"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}