{"id":39095,"date":"2016-11-10T00:00:00","date_gmt":"2016-11-09T23:00:00","guid":{"rendered":"http:\/\/www.pcb.ub.edu\/\/nuevo-impulso-a-la-investigacion-sobre-las-distrofias-degenerativas-de-la-retina\/"},"modified":"2020-11-16T16:22:37","modified_gmt":"2020-11-16T15:22:37","slug":"nuevo-impulso-a-la-investigacion-sobre-las-distrofias-degenerativas-de-la-retina","status":"publish","type":"post","link":"https:\/\/www.pcb.ub.edu\/es\/nuevo-impulso-a-la-investigacion-sobre-las-distrofias-degenerativas-de-la-retina\/","title":{"rendered":"Nuevo impulso a la investigaci\u00f3n sobre las distrofias degenerativas de la retina"},"content":{"rendered":"<p>Las distrofias hereditarias de la retina (IRD) son patolog\u00edas graves de dif\u00edcil diagn\u00f3stico \u2014tanto cl\u00ednico como gen\u00e9tico\u2014 que provocan la degeneraci\u00f3n de la retina y conducen progresivamente a la ceguera. Por ese motivo, identificar un nuevo gen implicado en estas dolencias no solo es esencial para el diagn\u00f3stico, sino tambi\u00e9n para profundizar en las causas de la enfermedad, establecer un pron\u00f3stico, identificar a los miembros de la familia que son portadores asintom\u00e1ticos y asesorar a los afectados.<\/p>\n<p>En la Facultad de Biolog\u00eda de la Universidad de Barcelona, la catedr\u00e1tica Roser Gonz\u00e0lez dirige el Grupo de Investigaci\u00f3n Consolidado de Gen\u00f3mica Funcional, especializado en el estudio de las bases gen\u00e9ticas y moleculares de patolog\u00edas de la visi\u00f3n, en especial de las distrofias degenerativas de la retina (DR). Una de las l\u00edneas de investigaci\u00f3n desplegada desde hace a\u00f1os por el equipo de la Dra. Gonz\u00e0lez tiene por objetivo identificar nuevos genes causantes de este grupo de patolog\u00edas y optimizar el diagn\u00f3stico gen\u00e9tico mediante t\u00e9cnicas de secuenciaci\u00f3n masiva del exoma y de paneles de genes espec\u00edficos. Adem\u00e1s, el grupo tambi\u00e9n tiene una destacada trayectoria cient\u00edfica en el estudio funcional de los nuevos genes identificados mediante la construcci\u00f3n de modelos celulares y animales para estudiar los efectos in vivo e in vitro de genes mutantes.<\/p>\n<p>El nuevo proyecto cient\u00edfico del grupo, titulado Construcci\u00f3n de un nuevo modelo animal de retinosis pigmentaria y estudio de su utilidad para ensayos de terapias neuroprotectoras, est\u00e1 dotado con una financiaci\u00f3n parcial de la ONCE y tiene como objetivo utilizar el sistema de edici\u00f3n gen\u00f3mica CRISPR\/Cas9 para generar un modelo de rat\u00f3n de DR que tenga delecionado todo el gen\u00a0Cerkl.Como paso previo para realizar el an\u00e1lisis fenot\u00edpico completo, el proyecto tambi\u00e9n caracterizar\u00e1 in vivo e in vitro las alteraciones neurofisiol\u00f3gicas e histol\u00f3gicas en la retina de estos animales. Este estudio fenot\u00edpico es un requisito previo para evaluar su aplicabilidad como herramienta en futuros ensayos de neuroprotecci\u00f3n de terapias farmacol\u00f3gicas, g\u00e9nicas o celulares.<br \/>\n\u00a0<\/p>\n<p><strong>\u2022 M\u00e1s informaci\u00f3n en la\u00a0<a href=\"http:\/\/www.ub.edu\/web\/ub\/es\/menu_eines\/noticies\/2016\/11\/019.html?\" target=\"_blank\" rel=\"noopener noreferrer\">web de la UB [+]<\/a><\/strong><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Generar un rat\u00f3n modelo de distrofias de la retina para realizar ensayos funcionales y abrir nuevas perspectivas de terapia en estas patolog\u00edas hereditarias es el principal objetivo de un nuevo proyecto impulsado por la Universidad de Barcelona y la ONCE, y que lidera la catedr\u00e1tica Roser Gonz\u00e0lez, del\u00a0<a href=\"http:\/\/www.ub.edu\/genetica\/\" target=\"_blank\" rel=\"noopener noreferrer\">Departamento de Gen\u00e9tica, Microbiolog\u00eda y Estad\u00edstica\u00a0<\/a>y del\u00a0<a href=\"http:\/\/www.pcb.ub.edu\/portal\/es\/cerca?p_p_id=cercador_WAR_empleatsempresesportlet&amp;p_p_lifecycle=0&amp;p_p_state=maximized&amp;p_p_mode=view&amp;p_p_col_id=column-1&amp;p_p_col_count=1&amp;_cercador_WAR_empleatsempresesportlet_jspPage=%2Fhtml%2Fcommon%2Fdetall-empresa.jsp&amp;_cercador_WAR_empleatsempresesportlet_empresaId=ENT_002730&amp;_cercador_WAR_empleatsempresesportlet_redirect=%2Fportal%2Fca%2Fcerca%3Fp_p_id%3Dcercador_WAR_empleatsempresesportlet%26p_p_lifecycle%3D0%26p_p_mode%3Dview%26_cercador_WAR_empleatsempresesportlet_keywords%3Dibub%26_cercador_WAR_empleatsempresesportlet_tab%3D1\" target=\"_blank\" rel=\"noopener noreferrer\">Instituto de Biomedicina de la Universidad de Barcelona (IBUB)<\/a>\u00a0con sede en el PCB.<\/p>\n<p>\u00a0<\/p>\n","protected":false},"author":1,"featured_media":26840,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"inline_featured_image":false,"footnotes":""},"categories":[9],"tags":[],"class_list":["post-39095","post","type-post","status-publish","format-standard","has-post-thumbnail","category-sin-categorizar"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.7 - 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