L’ONCE col\u00b7labora en el projecte coordinat per l’investigador Juli\u00e1n Cer\u00f3n Madrigal, de l’Institut d\u2019Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL), que t\u00e9 com a t\u00edtol “Cap a la medicina personalitzada en un subtipus de retinosi pigment\u00e0ria autos\u00f2mica dominant: mutacions en SNRPN200\u201d.<\/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 retiniana i restaurar la funci\u00f3 visual aprofundint en el coneixement dels processos moleculars i cel\u00b7lulars alterats per les mutacions en els diferents gens.<\/p>\n
La metodologia d’aquest treball es basa en l’\u00fas del nematode Caenorhabditis elegans per aproximar-se als mecanismes de malaltia i usar-lo com a model precl\u00ednics 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. Utilitzant aquesta t\u00e8cnica s’estan creant models animals en els quals s’han reprodu\u00eft mutacions de pacients amb retinosi, models que es podrien fer servir per predir l’efecte de f\u00e0rmacs sobre pacients amb mutacions determinades i assajar noves estrat\u00e8gies terap\u00e8utiques.<\/p>\n","protected":false},"excerpt":{"rendered":"
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<\/p>\n","protected":false},"author":6,"featured_media":10618,"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":[334,355],"tags":[],"publishpress_future_action":{"enabled":false,"date":"2024-05-09 21:38:53","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/7709"}],"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=7709"}],"version-history":[{"count":0,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/7709\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/10618"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=7709"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=7709"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=7709"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}