{"id":272,"date":"2026-07-07T19:27:11","date_gmt":"2026-07-07T17:27:11","guid":{"rendered":"https:\/\/corfoundation.org\/missio\/"},"modified":"2026-09-07T20:21:52","modified_gmt":"2026-09-07T18:21:52","slug":"missio","status":"publish","type":"page","link":"https:\/\/corfoundation.org\/ca\/missio\/","title":{"rendered":"Missi\u00f3"},"content":{"rendered":"

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La Fundaci\u00f3 COR Foundation neix amb el prop\u00f2sit de transformar el pron\u00f2stic i la qualitat de vida de les persones afectades per malalties rares i neurol\u00f2giques, amb un enfocament central i prioritari en les alteracions del neurodesenvolupament causades per mutacions en el complex remodelador de la cromatina nBAF, molt especialment en el gen ACTL6B.<\/p>\n

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La nostra missi\u00f3 \u00e9s accelerar la cerca de tractaments dirigits i ter\u00e0pies g\u00e8niques, alhora que garantim una atenci\u00f3 integral, digna i tecnol\u00f2gicament avan\u00e7ada per als pacients i les seves fam\u00edlies<\/p>\n

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Volem esdevenir l’entitat acceleradora de refer\u00e8ncia a escala internacional per a la recerca de les BAFopaties i, de manera urgent, de les mutacions en l’ACTL6B.<\/strong><\/p>\n

Busquem ser el pont catalitzador entre l’excel\u00b7l\u00e8ncia cient\u00edfica, la innovaci\u00f3 tecnol\u00f2gica i les necessitats di\u00e0ries dels pacients, assegurant que el coneixement sobre aquestes mutacions es tradueixi en ter\u00e0pies reals i que cap fam\u00edlia afronti aquest diagn\u00f2stic en solitud.<\/p>\n

[\/et_pb_text][\/et_pb_column][et_pb_column type=\u00bb1_2″ _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\/resultados-clinicos-nBAF-ACTL6B-scaled.jpg\u00bb alt=\u00bbResultados cl\u00ednicos en investigaci\u00f3n sobre la mutaci\u00f3n gen\u00e9tica nBAF\u00bb title_text=\u00bbresultados-clinicos-nBAF-ACTL6B\u00bb _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb global_colors_info=\u00bb{}\u00bb][\/et_pb_image][\/et_pb_column][\/et_pb_row][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

Sabem quina recerca s’ha de dur a terme: la tecnologia d’Oligonucle\u00f2tids Antisens (ASO) es perfila com la candidata ideal.<\/strong><\/p>\n

Aquesta t\u00e8cnica permet modular l’expressi\u00f3 gen\u00e8tica mitjan\u00e7ant un f\u00e0rmac dissenyat per \u00absilenciar\u00bb o \u00absaltar\u00bb l’al\u00b7lel mutat (el que funciona incorrectament). En fer-ho, permetem que el gen sa treballi sense interfer\u00e8ncies, restaurant els processos bioqu\u00edmics essencials. \u00c9s una eina extraordin\u00e0ria amb el potencial de transformar el tractament de malalties gen\u00e8tiques que fins avui no tenien alternativa.
<\/strong><\/p>\n

[\/et_pb_text][et_pb_image src=\u00bbhttps:\/\/corfoundation.org\/wp-content\/uploads\/2026\/09\/GEN-ACTL6B-scaled_Catala-scaled.jpeg\u00bb alt=\u00bbEl gen ACTL6b\u00bb title_text=\u00bbGEN-ACTL6B-scaled_Catala\u00bb _builder_version=\u00bb4.27.7″ _module_preset=\u00bbdefault\u00bb custom_margin=\u00bb|||1px||\u00bb hover_enabled=\u00bb0″ global_colors_info=\u00bb{}\u00bb sticky_enabled=\u00bb0″][\/et_pb_image][\/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 custom_padding=\u00bb||0px|||\u00bb global_colors_info=\u00bb{}\u00bb]<\/p>\n

La nostra missi\u00f3 en xifres<\/strong><\/h2>\n

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3\/5<\/p>\n

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Accions de Divulgaci\u00f3 2027 \/ 2028<\/strong><\/p>\n

Creiem fermament que una comunitat informada \u00e9s el motor m\u00e9s potent per al canvi. Per aix\u00f2, la fundaci\u00f3 impulsar\u00e0 accions de divulgaci\u00f3 adaptades a les fam\u00edlies afectades <\/strong>per acostar el coneixement cient\u00edfic, explicant de manera clara i accessible com la recerca actual pot oferir respostes i esperan\u00e7a real. Volem mostrar-te com cada fam\u00edlia pot involucrar-se activament <\/strong>en aquest proc\u00e9s: des de la donaci\u00f3 de mostres biol\u00f2giques i la participaci\u00f3 en estudis cl\u00ednics, fins a l’impuls directe a la ci\u00e8ncia. Quan ens unim i comprenem el valor de la nostra contribuci\u00f3, accelerem l’arribada de noves ter\u00e0pies i retallem el cam\u00ed per millorar, de manera directa, la qualitat de vida dels nostres pacients. <\/p>\n

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10\/30<\/p>\n

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Pacients 2027 \/ 2028<\/strong><\/p>\n

A la nostra fundaci\u00f3 sabem que cada dia compta per a les fam\u00edlies despr\u00e9s d’un diagn\u00f2stic ultra-rar. Per aix\u00f2, no nom\u00e9s connectem pacients i ci\u00e8ncia, sin\u00f3 que centralitzem els recursos biol\u00f2gics fonamentals per accelerar la recerca m\u00e8dica. Coordinem<\/strong> amb les fam\u00edlies la gesti\u00f3 i la recollida de mostres d’ADN i de fibroblasts<\/strong> dels afectats, facilitant el biobanc necessari perqu\u00e8 la comunitat cient\u00edfica pugui desenvolupar models de malaltia i dissenyar ter\u00e0pies g\u00e8niques o f\u00e0rmacs a la mida de la nostra mutaci\u00f3. Sense dades ni models cel\u00b7lulars no hi ha ci\u00e8ncia possible; la teva col\u00b7laboraci\u00f3 \u00e9s la pe\u00e7a que activa el cam\u00ed cap a un tractament real. <\/p>\n

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1\/5<\/p>\n

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Proyectos Cient\u00edficos 2027 \/ 2028<\/strong><\/p>\n

Des de la fundaci\u00f3, impulsarem projectes cient\u00edfics per al desenvolupament de ter\u00e0pies avan\u00e7ades. En els projectes de validaci\u00f3 cient\u00edfica de ter\u00e0pies ASO individualitzades<\/strong>, utilitzarem les mostres d’ADN dels pacients \u00edndex per dur a terme la seq\u00fcenciaci\u00f3 de lectura llarga, la qual cosa ens permetr\u00e0 identificar llocs diana per a oligonucle\u00f2tids antisens (ASO). Aix\u00ed mateix, les mostres de fibroblasts derivades dels pacients s’empraran en la generaci\u00f3 de models cel\u00b7lulars rellevants, com ara neurones derivades de c\u00e8l\u00b7lules mare pluripotents indu\u00efdes (iPSC), essencials per desxifrar els mecanismes de la malaltia i avaluar l’efic\u00e0cia dels ASO candidats. De manera paral\u00b7lela, desenvoluparem estudis de la hist\u00f2ria natural de les malalties<\/strong> associades a mutacions en els gens del complex nBAF, comen\u00e7ant pel gen ACTL6B<\/strong>, un pas imprescindible per comprendre l’evoluci\u00f3 cl\u00ednica i validar futurs assajos terap\u00e8utics. <\/p>\n

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