{"id":1769,"date":"2017-10-04T14:43:23","date_gmt":"2017-10-04T13:43:23","guid":{"rendered":"http:\/\/161.116.26.48\/que-hacemos\/ayudas-y-financiacion\/micromecenazgo\/gen-gens-que-causen-sindrome-dopitz-c\/"},"modified":"2018-07-13T11:56:11","modified_gmt":"2018-07-13T10:56:11","slug":"gen-gens-que-causen-sindrome-dopitz-c","status":"publish","type":"page","link":"https:\/\/www.fbg.ub.edu\/es\/que-hacemos\/ayudas-y-financiacion\/micromecenazgo\/gen-gens-que-causen-sindrome-dopitz-c\/","title":{"rendered":"Gen o gens que causen la s\u00edndrome d&#8217;Opitz C (en catal\u00e1n) CERRADO"},"content":{"rendered":"<p>La s\u00edndrome d\u2019Optiz C \u00e9s una malaltia gen\u00e8tica molt greu que a dia d\u2019avui no t\u00e9 possibilitat de tractament, diagn\u00f2stic prenatal o consell gen\u00e8tic ja que no es coneix el gen responsable ni com s&#8217;hereta<\/p>\n<p>El Departament de Gen\u00e8tica de la Facultat de Biologia de la Universitat de Barcelona, va rebre la visita d\u2019un pare d\u2019una nena afectada \u201cUn home de Terrassa, que podia ser qualsevol de nosaltres, preocupat perqu\u00e8 no es podia fer res per la malaltia de la seva filla. La malaltia de la Marta era com la d&#8217;altres nadons, nens o nenes: rara, devastadora, inexplicable&#8230;\u201d comenten els investigadors Roser Urreizti, Susana Balcells, Bru Cormand, Daniel Grinberg, i Llu\u00efsa Vilageliu. Van empatitzar amb aquell pare i van decidir assumir el repte d\u2019investigar sobre la s\u00edndrome d\u2019Opitz C amb l\u2019objectiu de trobar el gen (o gens) responsable(s) d\u2019aquesta malaltia com un primer pas per entendre la base molecular i investigar despr\u00e9s els possibles tractaments.<\/p>\n<p>La s\u00edndrome d\u2019Opitz C \u00e9s considerada una malaltia ultra rara, ja que es coneixen nom\u00e9s 60 casos diagnosticats en tot el m\u00f3n, la qual cosa fa que hi hagi poc inter\u00e8s en invertir en recerca. \u00c9s per aquesta ra\u00f3 que els investigadors de la UB van optat per utilitzar la f\u00f3rmula del crowdfunding gr\u00e0cies a la qual van aconseguir arribar 25.000 eur per fer la recerca.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>La s\u00edndrome d\u2019Optiz C \u00e9s una malaltia gen\u00e8tica molt greu que a dia d\u2019avui no t\u00e9 possibilitat de tractament, diagn\u00f2stic&#8230;<\/p>\n","protected":false},"author":1,"featured_media":1770,"parent":1481,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"page-projecte.php","meta":{"_acf_changed":false,"inline_featured_image":false,"_monsterinsights_skip_tracking":false,"footnotes":""},"class_list":["post-1769","page","type-page","status-publish","has-post-thumbnail","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.fbg.ub.edu\/es\/wp-json\/wp\/v2\/pages\/1769","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.fbg.ub.edu\/es\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.fbg.ub.edu\/es\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.fbg.ub.edu\/es\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.fbg.ub.edu\/es\/wp-json\/wp\/v2\/comments?post=1769"}],"version-history":[{"count":2,"href":"https:\/\/www.fbg.ub.edu\/es\/wp-json\/wp\/v2\/pages\/1769\/revisions"}],"predecessor-version":[{"id":5786,"href":"https:\/\/www.fbg.ub.edu\/es\/wp-json\/wp\/v2\/pages\/1769\/revisions\/5786"}],"up":[{"embeddable":true,"href":"https:\/\/www.fbg.ub.edu\/es\/wp-json\/wp\/v2\/pages\/1481"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.fbg.ub.edu\/es\/wp-json\/wp\/v2\/media\/1770"}],"wp:attachment":[{"href":"https:\/\/www.fbg.ub.edu\/es\/wp-json\/wp\/v2\/media?parent=1769"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}