{"id":285,"date":"2026-07-07T19:30:51","date_gmt":"2026-07-07T17:30:51","guid":{"rendered":"https:\/\/corfoundation.org\/recerca\/"},"modified":"2026-09-07T14:21:49","modified_gmt":"2026-09-07T12:21:49","slug":"recerca","status":"publish","type":"page","link":"https:\/\/corfoundation.org\/ca\/recerca\/","title":{"rendered":"Recerca"},"content":{"rendered":"

[et_pb_section fb_built=\u00bb1″ fullwidth=\u00bbon\u00bb _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_fullwidth_slider _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_slide heading=\u00bbRecerca\u00bb _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb background_image=\u00bbhttps:\/\/corfoundation.org\/wp-content\/uploads\/2026\/07\/NeuroDev1.png\u00bb background_enable_image=\u00bbon\u00bb global_colors_info=\u00bb{}\u00bb sticky_transition=\u00bbon\u00bb]<\/p>\n

Investiguem per trobar tractaments dirigits i ter\u00e0pies g\u00e8niques.<\/p>\n

[\/et_pb_slide][\/et_pb_fullwidth_slider][\/et_pb_section][et_pb_section fb_built=\u00bb1″ _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_row _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_column type=\u00bb4_4″ _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_text _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb]<\/p>\n

La nostra urg\u00e8ncia investigadora se centra en la subunitat espec\u00edfica neuronal del complex BAF, codificada pel gen ACTL6B (tamb\u00e9 conegut com a BAF53b). Aquest complex \u00e9s cr\u00edtic per a l’expressi\u00f3 g\u00e8nica, la integritat del genoma i el creixement neuronal dependent de l’activitat. <\/p>\n

[\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\u00bb1″ _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_row column_structure=\u00bb1_3,1_3,1_3″ _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_column type=\u00bb1_3″ _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_image src=\u00bbhttps:\/\/corfoundation.org\/wp-content\/uploads\/\/2026\/07\/adn-icon1.svg\u00bb title_text=\u00bbadn-icon1″ _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb max_width=\u00bb150px\u00bb custom_margin=\u00bb||0px||false|false\u00bb global_colors_info=\u00bb{}\u00bb][\/et_pb_image][et_pb_text _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb hover_enabled=\u00bb0″ global_colors_info=\u00bb{}\u00bb sticky_enabled=\u00bb0″]<\/p>\n

L’impacte cl\u00ednic de l’ACTL6B<\/strong><\/p>\n

Les alteracions en aquest gen provoquen fenotips cl\u00ednics severs. Les variants heterozigotes de novo provoquen un trastorn del desenvolupament intel\u00b7lectual (IDDSSAD). <\/p>\n

 <\/p>\n

[\/et_pb_text][\/et_pb_column][et_pb_column type=\u00bb1_3″ _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_image src=\u00bbhttps:\/\/corfoundation.org\/wp-content\/uploads\/\/2026\/07\/difficult-icon1.svg\u00bb title_text=\u00bbdifficult-icon1″ _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb max_width=\u00bb150px\u00bb custom_margin=\u00bb||0px||false|false\u00bb custom_padding=\u00bb||0px||false|false\u00bb global_colors_info=\u00bb{}\u00bb][\/et_pb_image][et_pb_text _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb]<\/p>\n

La realitat del pacient<\/strong><\/p>\n

Aquest diagn\u00f2stic es tradueix en discapacitats intel\u00b7lectuals i de la parla severes, espectre autista i greus alteracions de la mobilitat.<\/p>\n

[\/et_pb_text][\/et_pb_column][et_pb_column type=\u00bb1_3″ _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_image src=\u00bbhttps:\/\/corfoundation.org\/wp-content\/uploads\/\/2026\/07\/science-icon1.svg\u00bb title_text=\u00bbscience-icon1″ _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb max_width=\u00bb150px\u00bb custom_margin=\u00bb||0px||false|false\u00bb global_colors_info=\u00bb{}\u00bb][\/et_pb_image][et_pb_text _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb]<\/p>\n

El marc de les BAFopaties<\/strong><\/p>\n

Ampliem tamb\u00e9 el nostre marc de col\u00b7laboraci\u00f3 cap a trastorns relacionats causats per mutacions en altres subunitats del complex BAF (com l’ARID1B, l’ARID1A, l’SMARCA2, entre d’altres), que comparteixen fenotips cl\u00ednics.<\/p>\n

[\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\u00bb1″ _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_row _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_column type=\u00bb4_4″ _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_text _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb]<\/p>\n

Col\u00b7laborem amb m\u00faltiples centres de recerca<\/h2>\n

Ja estem en contacte amb nombroses institucions cient\u00edfiques dedicades a l’estudi de malalties rares. Ens encarreguem de la recopilaci\u00f3 de la informaci\u00f3 per part de les fam\u00edlies, aix\u00ed com de la captaci\u00f3 de fons, perqu\u00e8 aquests centres puguin avan\u00e7ar en la seva recerca. <\/p>\n

\n

[\/et_pb_text][\/et_pb_column][\/et_pb_row][\/et_pb_section][et_pb_section fb_built=\u00bb1″ _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_row _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_column type=\u00bb4_4″ _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_text _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb]<\/p>\n

Centres de Recerca<\/h2>\n

[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb locked=\u00bboff\u00bb global_colors_info=\u00bb{}\u00bb][et_pb_column type=\u00bb4_4″ _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][lwp_image_carousel gallery_ids=\u00bb144,22,25,141,23″ slides_show=\u00bb4″ autoplay_animation=\u00bbon\u00bb autoplay_animation_speed=\u00bb2400ms\u00bb slide_animation_speed=\u00bb400ms\u00bb layout=\u00bbcenter\u00bb _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb border_width_all_image=\u00bb40px\u00bb border_color_all_image=\u00bbRGBA(255,255,255,0)\u00bb global_colors_info=\u00bb{}\u00bb][\/lwp_image_carousel][\/et_pb_column][\/et_pb_row][\/et_pb_section]<\/p>\n","protected":false},"excerpt":{"rendered":"

Investiguem per trobar tractaments dirigits i ter\u00e0pies g\u00e8niques.La nostra urg\u00e8ncia investigadora se centra en la subunitat espec\u00edfica neuronal del complex BAF, codificada pel gen ACTL6B (tamb\u00e9 conegut com a BAF53b). Aquest complex \u00e9s cr\u00edtic per a l’expressi\u00f3 g\u00e8nica, la integritat del genoma i el creixement neuronal dependent de l’activitat. L’impacte cl\u00ednic de l’ACTL6B Les alteracions […]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"","_et_gb_content_width":"","inline_featured_image":false,"footnotes":""},"class_list":["post-285","page","type-page","status-publish","hentry"],"yoast_head":"\nRecerca - COR Foundation<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/corfoundation.org\/ca\/recerca\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Recerca - COR Foundation\" \/>\n<meta property=\"og:description\" content=\"Investiguem per trobar tractaments dirigits i ter\u00e0pies g\u00e8niques.La nostra urg\u00e8ncia investigadora se centra en la subunitat espec\u00edfica neuronal del complex BAF, codificada pel gen ACTL6B (tamb\u00e9 conegut com a BAF53b). Aquest complex \u00e9s cr\u00edtic per a l'expressi\u00f3 g\u00e8nica, la integritat del genoma i el creixement neuronal dependent de l'activitat. L'impacte cl\u00ednic de l'ACTL6B Les alteracions […]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/corfoundation.org\/ca\/recerca\/\" \/>\n<meta property=\"og:site_name\" content=\"COR Foundation\" \/>\n<meta property=\"article:modified_time\" content=\"2026-09-07T12:21:49+00:00\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Temps estimat de lectura\" \/>\n\t<meta name=\"twitter:data1\" content=\"4 minuts\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/corfoundation.org\\\/ca\\\/recerca\\\/\",\"url\":\"https:\\\/\\\/corfoundation.org\\\/ca\\\/recerca\\\/\",\"name\":\"Recerca - COR Foundation\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/corfoundation.org\\\/#website\"},\"datePublished\":\"2026-07-07T17:30:51+00:00\",\"dateModified\":\"2026-09-07T12:21:49+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/corfoundation.org\\\/ca\\\/recerca\\\/#breadcrumb\"},\"inLanguage\":\"ca\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/corfoundation.org\\\/ca\\\/recerca\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/corfoundation.org\\\/ca\\\/recerca\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Portada\",\"item\":\"https:\\\/\\\/corfoundation.org\\\/ca\\\/home\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Recerca\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/corfoundation.org\\\/#website\",\"url\":\"https:\\\/\\\/corfoundation.org\\\/\",\"name\":\"COR Foundation\",\"description\":\"\",\"publisher\":{\"@id\":\"https:\\\/\\\/corfoundation.org\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/corfoundation.org\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"ca\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/corfoundation.org\\\/#organization\",\"name\":\"COR Foundation\",\"url\":\"https:\\\/\\\/corfoundation.org\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"ca\",\"@id\":\"https:\\\/\\\/corfoundation.org\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/corfoundation.org\\\/wp-content\\\/uploads\\\/2026\\\/07\\\/LOGO_COR_FOUNDATION.png\",\"contentUrl\":\"https:\\\/\\\/corfoundation.org\\\/wp-content\\\/uploads\\\/2026\\\/07\\\/LOGO_COR_FOUNDATION.png\",\"width\":772,\"height\":276,\"caption\":\"COR Foundation\"},\"image\":{\"@id\":\"https:\\\/\\\/corfoundation.org\\\/#\\\/schema\\\/logo\\\/image\\\/\"}}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Recerca - COR Foundation","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/corfoundation.org\/ca\/recerca\/","og_locale":"ca_ES","og_type":"article","og_title":"Recerca - COR Foundation","og_description":"Investiguem per trobar tractaments dirigits i ter\u00e0pies g\u00e8niques.La nostra urg\u00e8ncia investigadora se centra en la subunitat espec\u00edfica neuronal del complex BAF, codificada pel gen ACTL6B (tamb\u00e9 conegut com a BAF53b). Aquest complex \u00e9s cr\u00edtic per a l'expressi\u00f3 g\u00e8nica, la integritat del genoma i el creixement neuronal dependent de l'activitat. L'impacte cl\u00ednic de l'ACTL6B Les alteracions […]","og_url":"https:\/\/corfoundation.org\/ca\/recerca\/","og_site_name":"COR Foundation","article_modified_time":"2026-09-07T12:21:49+00:00","twitter_card":"summary_large_image","twitter_misc":{"Temps estimat de lectura":"4 minuts"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"WebPage","@id":"https:\/\/corfoundation.org\/ca\/recerca\/","url":"https:\/\/corfoundation.org\/ca\/recerca\/","name":"Recerca - COR Foundation","isPartOf":{"@id":"https:\/\/corfoundation.org\/#website"},"datePublished":"2026-07-07T17:30:51+00:00","dateModified":"2026-09-07T12:21:49+00:00","breadcrumb":{"@id":"https:\/\/corfoundation.org\/ca\/recerca\/#breadcrumb"},"inLanguage":"ca","potentialAction":[{"@type":"ReadAction","target":["https:\/\/corfoundation.org\/ca\/recerca\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/corfoundation.org\/ca\/recerca\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Portada","item":"https:\/\/corfoundation.org\/ca\/home\/"},{"@type":"ListItem","position":2,"name":"Recerca"}]},{"@type":"WebSite","@id":"https:\/\/corfoundation.org\/#website","url":"https:\/\/corfoundation.org\/","name":"COR Foundation","description":"","publisher":{"@id":"https:\/\/corfoundation.org\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/corfoundation.org\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"ca"},{"@type":"Organization","@id":"https:\/\/corfoundation.org\/#organization","name":"COR Foundation","url":"https:\/\/corfoundation.org\/","logo":{"@type":"ImageObject","inLanguage":"ca","@id":"https:\/\/corfoundation.org\/#\/schema\/logo\/image\/","url":"https:\/\/corfoundation.org\/wp-content\/uploads\/2026\/07\/LOGO_COR_FOUNDATION.png","contentUrl":"https:\/\/corfoundation.org\/wp-content\/uploads\/2026\/07\/LOGO_COR_FOUNDATION.png","width":772,"height":276,"caption":"COR Foundation"},"image":{"@id":"https:\/\/corfoundation.org\/#\/schema\/logo\/image\/"}}]}},"_links":{"self":[{"href":"https:\/\/corfoundation.org\/ca\/wp-json\/wp\/v2\/pages\/285","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/corfoundation.org\/ca\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/corfoundation.org\/ca\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/corfoundation.org\/ca\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/corfoundation.org\/ca\/wp-json\/wp\/v2\/comments?post=285"}],"version-history":[{"count":3,"href":"https:\/\/corfoundation.org\/ca\/wp-json\/wp\/v2\/pages\/285\/revisions"}],"predecessor-version":[{"id":288,"href":"https:\/\/corfoundation.org\/ca\/wp-json\/wp\/v2\/pages\/285\/revisions\/288"}],"wp:attachment":[{"href":"https:\/\/corfoundation.org\/ca\/wp-json\/wp\/v2\/media?parent=285"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}