{"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’ONCE i l’IDIBELL col\u00b7laboren en un projecte sobre Retinosi Pigment\u00e0ria"},"content":{"rendered":"
L’ONCE col\u00b7labora en el projecte dirigit per l’investigador Juli\u00e1n Cer\u00f3n Madrigal, que dirigeix \u200b\u200bel grup “Models de malaltia en C. elegans” de l’Institut d’Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL), que t\u00e9 per t\u00edtol “Cap a la medicina personalitzada en un subtipus de retinosi pigment\u00e0ria autos\u00f2mica dominant “. L’objectiu \u00e9s l’\u00fas del nematode Caenorhabditis elegans<\/em> per aproximar-se als mecanismes de malaltia i usar-lo com a model precl\u00ednic de baix cost. <\/p>\n La recent t\u00e8cnica de CRISPR \/ CAS9 est\u00e0 revolucionant la investigaci\u00f3 biom\u00e8dica ja que facilita l’edici\u00f3 “a la carta” dels genomes. D’aquesta manera, el grup del Dr Cer\u00f3n pot reproduir mutacions de pacients amb Retinosi Pigment\u00e0ria en el genoma de 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’ARN en tots els eucariotes, est\u00e0 extraordin\u00e0riament conservat. Aquesta acci\u00f3 recolzada per l’ONCE pret\u00e9n introduir en C. elegans<\/em> una mutaci\u00f3 concreta del gen PRPF8 que s’ha trobat en fam\u00edlies espanyoles. D’aquesta manera, aquest sistema es podria utilitzar com a model precl\u00ednic per predir l’efecte de f\u00e0rmacs sobre pacients amb mutacions determinades i assajar noves estrat\u00e8gies terap\u00e8utiques. <\/p>\n 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’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":" La investigaci\u00f3 aborda estudis funcionals de gens lligats a un tipus deceguera heredit\u00e0ria amb la finalitat d’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":"2024-09-14 18:33:54","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/7923"}],"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}]}}