{"id":10146,"date":"2019-10-21T00:00:00","date_gmt":"2019-10-20T22:00:00","guid":{"rendered":"https:\/\/idibell.cat\/es\/blog\/2019\/10\/21\/sant-joan-de-deu-y-el-idibell-unen-fuerzas-para-crear-el-primer-modelo-animal-del-sindrome-sturge-weber\/"},"modified":"2020-05-19T12:21:21","modified_gmt":"2020-05-19T10:21:21","slug":"sant-joan-de-deu-y-el-idibell-unen-fuerzas-para-crear-el-primer-modelo-animal-del-sindrome-sturge-weber","status":"publish","type":"post","link":"https:\/\/idibell.cat\/es\/2019\/10\/sant-joan-de-deu-y-el-idibell-unen-fuerzas-para-crear-el-primer-modelo-animal-del-sindrome-sturge-weber\/","title":{"rendered":"Sant Joan de D\u00e9u y el IDIBELL unen fuerzas para crear el primer modelo animal del S\u00edndrome Sturge-Weber"},"content":{"rendered":"<p>El S\u00edndrome de Sturge-Weber es un<strong>\u00a0trastorno vascular cong\u00e9nito caracterizado por una malformaci\u00f3n facial capilar<\/strong>\u00a0(mancha de vino de Porto) asociada a malformaciones capilares en el cerebro y glaucoma. Se trata de un<strong>\u00a0trastorno cong\u00e9nito y espor\u00e1dico, de car\u00e1cter no hereditario<\/strong>, aunque se han descrito algunos casos familiares. Recientemente se ha descubierto que\u00a0<strong>el s\u00edndrome est\u00e1 causado por la mutaci\u00f3n som\u00e1tica R183Q en el gen GNAQ<\/strong>, afectando las v\u00edas de se\u00f1alizaci\u00f3n y comunicaci\u00f3n celular.<\/p>\n<p>\u00abAunque\u00a0<strong>sabemos que mutaci\u00f3n origina el s\u00edndrome<\/strong>, a\u00fan\u00a0<strong>no conocemos con exactitud cu\u00e1l es la etiopatogenia<\/strong>\u00a0de la enfermedad. Por este motivo a\u00fan no tenemos una terapia especifica dirigida a estas alteraciones\u00bb, comenta la Dra. Baselga.<\/p>\n<p>Durante los pr\u00f3ximos a\u00f1os el equipo de investigadores trabajar\u00e1, por un lado, para\u00a0<strong>identificar las alteraciones moleculares y celulares inducidas por la mutaci\u00f3n\u00a0<\/strong>mediante el uso de cultivos de c\u00e9lulas endoteliales. Y por otro lado,\u00a0<strong>generaran el primer modelo animal precl\u00ednico de la S\u00edndrome de Sturge-Weber<\/strong>, con el objetivo de\u00a0<strong>realizar estudios farmacol\u00f3gicos<\/strong>\u00a0e iniciar el camino para encontrar un\u00a0<strong>tratamiento para estos pacientes.<\/strong><\/p>\n<p>El proyecto ha recibido financiaci\u00f3n por parte de la\u00a0<a href=\"https:\/\/sturge-weber.es\/\" target=\"_blank\" rel=\"noopener noreferrer\">Asociaci\u00f3n Espa\u00f1ola S\u00edndrome de Sturge-Weber<\/a>, a trav\u00e9s de un convenio firmado este mes de septiembre.<\/p>\n<p>Recientemente la Dra. Graupera ha recibido una beca de la Obra Social La Caixa dentro de la categor\u00eda\u00a0<em>Health Research 2018<\/em>\u00a0para iniciar un proyecto en malformaciones vasculares con mutaciones en genes relacionados (PIK3CA, RAS, entre otros) y titulado \u00ab\u00bfQu\u00e9 terapias personalizadas curaran las malformaciones?\u00bb, dentro del cual participar\u00e1 la Dra. Baselga.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>El proyecto est\u00e1 liderado por la Dra. Eul\u00e0lia Baselga, \u00c1rea de Dermatolog\u00eda del Hospital Sant Joan de D\u00e9u Barcelona, y la Dra. Mariona Graupera, Institut d&#8217;Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL). Y tiene como objetivo principal identificar un tratamiento dirigido para revertir o mejorar las alteraciones vasculares producidas por la mutaci\u00f3n R183Q del gen GNAQ que da lugar al S\u00edndrome de Sturge-Weber.<\/p>\n","protected":false},"author":6,"featured_media":10147,"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":[242,184,325,281],"tags":[],"publishpress_future_action":{"enabled":false,"date":"2024-05-13 21:00:16","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts\/10146"}],"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=10146"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/posts\/10146\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/media\/10147"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/media?parent=10146"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/categories?post=10146"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/es\/wp-json\/wp\/v2\/tags?post=10146"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}