{"id":8071,"date":"2015-10-22T00:00:00","date_gmt":"2015-10-21T22:00:00","guid":{"rendered":"https:\/\/idibell.cat\/blog\/2015\/10\/22\/la-plataforma-precipita-recapta-fons-per-a-la-recerca-en-la-sindrome-de-cornelia-de-lange-a-lidibell\/"},"modified":"2020-05-13T19:47:27","modified_gmt":"2020-05-13T17:47:27","slug":"la-plataforma-precipita-recapta-fons-per-a-la-recerca-en-la-sindrome-de-cornelia-de-lange-a-lidibell","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2015\/10\/la-plataforma-precipita-recapta-fons-per-a-la-recerca-en-la-sindrome-de-cornelia-de-lange-a-lidibell\/","title":{"rendered":"La plataforma Precipita recapta fons per a la recerca en la s\u00edndrome de Cornelia de Lange a l\u2019IDIBELL"},"content":{"rendered":"<p>La s\u00edndrome de Cornelia de Lange (CDLS) \u00e9s una malaltia rara molt severa caracteritzada per un retard mental i de creixement i un dimorfisme facial caracter\u00edstic. En els casos m\u00e9s greus, hi ha falta total o parcial de les extremitats superiors i tenen mancances psicomotores pel que en molts casos no arriben a caminar. <\/p>\n<p> El grup de recerca en cicle cel\u00b7lular de l\u2019Institut d\u2019Investigaci\u00f3 Biom\u00e9dica de Bellvitge (IDIBELL), liderat per Ethel Queralt, estudia les alteracions gen\u00f2miques de la CDLS amb l\u2019objectiu de trobar marcadors que en permetin fer un diagn\u00f2stic prenatal i, potser en el futur, desenvolupar tractaments de ter\u00e0pia g\u00e8nica per controlar la malaltia. <\/p>\n<p> La campanya encetada a la plataforma de crowdfunding Precipita t\u00e9 com a objectiu recaptar 25.000 euros per avan\u00e7ar en l&#8217;estudi de les causes que produeixen la CDLS a nivell molecular i identificar possibles dianes terap\u00e8utiques. Els resultats preliminars del grup de Queralt indiquen que molts dels s\u00edmptomes associats als pacients d&#8217;aquesta malaltia es duen a canvis es l&#8217;expressi\u00f3 g\u00e8nica. Per entendre&#8217;n les bases moleculars es realitzaran estudis d&#8217;expressi\u00f3 g\u00e8nica en els pacients. Aix\u00f2 ser\u00e0 determinant per identificar gens que tenen una expressi\u00f3 diferencial en els mallats i que seran la base per desenvolupar noves ter\u00e0pies. <\/p>\n<p> La campanya est\u00e0 oberta fins l\u2019onze de gener de 2016 i podeu col\u00b7laborar des d\u2019aquest enlla\u00e7: <a class=\"enllac\" style=\"font-family: Arial; font-size: 12px; text-align: justify;\" 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><span style=\"color: #58585a; font-family: Arial; font-size: 12px; text-align: justify;\"><\/p>\n<p><\/span><\/p>\n","protected":false},"excerpt":{"rendered":"<p>La s\u00edndrome de Cornelia de Lange (CDLS) \u00e9s una malaltia rara molt severa caracteritzada per un retard mental i de creixement i un dimorfisme facial caracter\u00edstic. En els casos m\u00e9s greus, hi ha falta total o parcial de les extremitats superiors i tenen mancances psicomotores pel que en molts casos no arriben a caminar. El [&hellip;]<\/p>\n","protected":false},"author":6,"featured_media":10847,"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-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-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-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-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-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-gradient":""}},"footnotes":""},"categories":[1],"tags":[],"publishpress_future_action":{"enabled":false,"date":"2024-05-09 14:47:55","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8071"}],"collection":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/users\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/comments?post=8071"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8071\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/10847"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=8071"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=8071"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=8071"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}