L’ONCE col\u00b7labora en el projecte dirigit per Ana M\u00e9ndez Zunzunegui del grup de Neurobiologia cel\u00b7lular i molecular de l’Institut d’Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) i professora de la Universitat de Barcelona, que t\u00e9 com objectiu identificar noves dianes terap\u00e8utiques contra la ceguesa heredit\u00e0ria.<\/p>\n
El projecte porta per t\u00edtol “Estudi de les bases moleculars de retinosis pigment\u00e0ries i distr\u00f2fies heredit\u00e0ries de retina: caracteritzaci\u00f3 funcional de prote\u00efnes causants de malaltia i mecanismes de patogenicitat en models animals”.<\/p>\n
Els investigadors han generat models animals de ceguesa, que despr\u00e9s estudia aplicant t\u00e8cniques de bioqu\u00edmica de prote\u00efnes, an\u00e0lisi histol\u00f2gics per microsc\u00f2pia \u00f2ptica i electr\u00f2nica i an\u00e0lisis funcionals per electrorretinograma. L’objectiu \u00e9s identificar el desencadenant inicial de la degeneraci\u00f3 retinal i les vies de senyalitzaci\u00f3 que acompanyen la progressi\u00f3 de la malaltia, a fi d’identificar possibles dianes terap\u00e8utiques.<\/p>\n
D’una banda el projecte se centra en caracteritzar funcionalment les mutacions en els gens GUCA1A i GUCA1B associades a distr\u00f2fies de con autos\u00f2miques dominants i a retinitis pigmentoses. Aquests gens codifiquen prote\u00efnes indispensables per a la primera etapa de percepci\u00f3 visual en les c\u00e8l\u00b7lules fotoreceptor de la retina, i aquest estudi busca entendre com les diferents mutacions resulten en toxicitat per a la c\u00e8l\u00b7lula.<\/p>\n
D’altra banda, el projecte persegueix desenvolupar una metodologia innovadora per obtenir ratolins modificats gen\u00e8ticament, que permeti desenvolupar models animals de ceguesa de forma m\u00e9s r\u00e0pida i assequible. La t\u00e8cnica es basa en introduir l\u2019ADN modificat gen\u00e8ticament directament en c\u00e8l\u00b7lules de espermatogonia de ratol\u00ed (c\u00e8l\u00b7lules progenitores de la l\u00ednia germinal masculina) mitjan\u00e7ant electroporaci\u00f3, per obtenir prog\u00e8nie modificada gen\u00e8ticament en un per\u00edode de temps molt m\u00e9s curt que per metodologia convencional.<\/p>\n
Disposar de models de ratol\u00ed suposa un avantatge enorme a l’hora d’estudiar les bases de la ceguesa in vivo, atesa la complexitat del sistema visual i l’especialitzaci\u00f3 de les c\u00e8l\u00b7lules fotoreceptor de la retina, dif\u00edcils de reproduir en c\u00e8l\u00b7lules en cultiu. Donat el gran nombre de gens en qu\u00e8 es troben les mutacions causants de ceguesa, l’agilitat per desenvolupar models animals accelerar\u00e0 l’estudi de les bases de la patogenicitat, i la recerca de possibles estrat\u00e8gies terap\u00e8utiques.<\/span><\/p>\n L’ONCE<\/strong> amb la investigaci\u00f3<\/strong> Amb aquestes col\u00b7laboracions, l’ONCE pret\u00e9n estimular el coneixement cient\u00edfic m\u00e9s avan\u00e7at i innovador sobre la ceguesa i defici\u00e8ncia visual, per tal de fomentar la seva prevenci\u00f3 i el desenvolupament de ter\u00e0pies efectives.<\/p>\n","protected":false},"excerpt":{"rendered":" L’ONCE col\u00b7labora en el projecte dirigit per Ana M\u00e9ndez Zunzunegui del grup de Neurobiologia cel\u00b7lular i molecular de l’Institut d’Investigaci\u00f3 Biom\u00e8dica de Bellvitge (IDIBELL) i professora de la Universitat de Barcelona, que t\u00e9 com objectiu identificar noves dianes terap\u00e8utiques contra la ceguesa heredit\u00e0ria. El projecte porta per t\u00edtol “Estudi de les bases moleculars de retinosis […]<\/p>\n","protected":false},"author":6,"featured_media":8418,"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":[1,347,458,340,457],"tags":[],"publishpress_future_action":{"enabled":false,"date":"2024-05-12 10:13:56","action":"change-status","newStatus":"draft","terms":[],"taxonomy":"category"},"_links":{"self":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8417"}],"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=8417"}],"version-history":[{"count":2,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8417\/revisions"}],"predecessor-version":[{"id":19482,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/posts\/8417\/revisions\/19482"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media\/8418"}],"wp:attachment":[{"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/media?parent=8417"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/categories?post=8417"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/idibell.cat\/wp-json\/wp\/v2\/tags?post=8417"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}
\n<\/strong> L’ONCE compleix la seva missi\u00f3 social a trav\u00e9s de diversos projectes que afavoreixen l’autonomia personal, la plena inclusi\u00f3 social i la defensa dels drets dels seus afiliats, sense oblidar la igualtat d’oportunitats, com a ciutadans de ple dret.
\nPer desenvolupar els seus objectius, l’ONCE es recolza en la prestaci\u00f3 de m\u00faltiples serveis i en la posada en marxa de diverses activitats. Destaca el seu comprom\u00eds per impulsar la I+D+I en mat\u00e8ria de ceguesa i defici\u00e8ncia visual, mitjan\u00e7ant la seva col\u00b7laboraci\u00f3 en projectes de recerca relacionats amb aquelles patologies oftalmol\u00f2giques que amb m\u00e9s freq\u00fc\u00e8ncia s\u00f3n causa de ceguesa total o parcial.<\/p>\n