{"id":7923,"date":"2016-09-26T00:00:00","date_gmt":"2016-09-25T22:00:00","guid":{"rendered":"https:\/\/idibell.cat\/blog\/2016\/09\/26\/lonce-i-lidibell-col%c2%b7laboren-en-un-projecte-sobre-retinosi-pigmentaria\/"},"modified":"2020-05-29T11:18:04","modified_gmt":"2020-05-29T09:18:04","slug":"lonce-i-lidibell-col%c2%b7laboren-en-un-projecte-sobre-retinosi-pigmentaria","status":"publish","type":"post","link":"https:\/\/idibell.cat\/2016\/09\/lonce-i-lidibell-col%c2%b7laboren-en-un-projecte-sobre-retinosi-pigmentaria\/","title":{"rendered":"L&#8217;ONCE i l&#8217;IDIBELL col\u00b7laboren en un projecte sobre Retinosi Pigment\u00e0ria"},"content":{"rendered":"<p>L&#8217;ONCE col\u00b7labora en el projecte dirigit per l&#8217;investigador Juli\u00e1n Cer\u00f3n Madrigal, que dirigeix \u200b\u200bel grup &#8220;Models de malaltia en C. elegans&#8221; de l&#8217;Institut d&#8217;Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL), que t\u00e9 per t\u00edtol &#8220;Cap a la medicina personalitzada en un subtipus de retinosi pigment\u00e0ria autos\u00f2mica dominant &#8220;. L&#8217;objectiu \u00e9s l&#8217;\u00fas del nematode <em>Caenorhabditis elegans<\/em> per aproximar-se als mecanismes de malaltia i usar-lo com a model precl\u00ednic de baix cost. <\/p>\n<p> La recent t\u00e8cnica de CRISPR \/ CAS9 est\u00e0 revolucionant la investigaci\u00f3 biom\u00e8dica ja que facilita l&#8217;edici\u00f3 &#8220;a la carta&#8221; dels genomes. D&#8217;aquesta manera, el grup del Dr Cer\u00f3n pot reproduir mutacions de pacients amb Retinosi Pigment\u00e0ria en el genoma de <em>C. elegans<\/em>. En concret, insertaran mutacions en el factor de splicing PRP-8 \/ PRPF8 que, en ser requerit per a la maduraci\u00f3 de l&#8217;ARN en tots els eucariotes, est\u00e0 extraordin\u00e0riament conservat. Aquesta acci\u00f3 recolzada per l&#8217;ONCE pret\u00e9n introduir <em>en C. elegans<\/em> una mutaci\u00f3 concreta del gen PRPF8 que s&#8217;ha trobat en fam\u00edlies espanyoles. D&#8217;aquesta manera, aquest sistema es podria utilitzar com a model precl\u00ednic per predir l&#8217;efecte de f\u00e0rmacs sobre pacients amb mutacions determinades i assajar noves estrat\u00e8gies terap\u00e8utiques. <\/p>\n<p> Les distr\u00f2fies heredit\u00e0ries de la retina s\u00f3n desordres amb gran heterogene\u00eftat cl\u00ednica i gen\u00e8tica per als que no hi ha cura avui en dia i que afecten 15.000 persones a Espanya. Fins a la data s&#8217;han descrit fins a 150 gens causants de distr\u00f2fia de retina, el que il\u00b7lustra la dificultat en abordar aquests desordres. El repte \u00e9s dissenyar tractaments per frenar la degeneraci\u00f3 retinal i restaurar la funci\u00f3 visual, i per a aix\u00f2 cal aprofundir en el coneixement dels processos moleculars i cel\u00b7lulars alterats per les mutacions en els diferents gens.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>La investigaci\u00f3 aborda estudis funcionals de gens lligats a un tipus deceguera heredit\u00e0ria amb la finalitat d&#8217;identificar possibles dianes terap\u00e8utiques<\/p>\n","protected":false},"author":6,"featured_media":10743,"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":[1,355],"tags":[],"class_list":["post-7923","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-sin-categorizar","category-models-de-malaltia-en-c-elegans"],"publishpress_future_action":{"enabled":false,"date":"2024-12-29 08:49:08","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"publishpress_future_workflow_manual_trigger":{"enabledWorkflows":[]},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/7923","targetHints":{"allow":["GET"]}}],"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=7923"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/7923\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/10743"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=7923"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=7923"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=7923"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}