{"id":2413,"date":"2021-07-13T09:33:22","date_gmt":"2021-07-13T09:33:22","guid":{"rendered":"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/index.php\/2021\/07\/13\/universitat-pompeu-fabra-clinica-universidad-de-navarra-y-aefat-investigar-ataxia-telangiectasia\/"},"modified":"2026-03-02T12:01:20","modified_gmt":"2026-03-02T12:01:20","slug":"universitat-pompeu-fabra-clinica-universidad-de-navarra-y-aefat-investigar-ataxia-telangiectasia","status":"publish","type":"post","link":"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/index.php\/2021\/07\/13\/universitat-pompeu-fabra-clinica-universidad-de-navarra-y-aefat-investigar-ataxia-telangiectasia\/","title":{"rendered":"Universitat Pompeu Fabra, Cl\u00ednica Universidad de Navarra y Aefat unen fuerzas para investigar la ataxia telangiectasia"},"content":{"rendered":"<p style=\"text-align: justify;\"><img fetchpriority=\"high\" decoding=\"async\" class=\" alignright size-full wp-image-2412\" src=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2021\/07\/Aefat_investigadores.jpg\" alt=\"Aefat investigadores\" width=\"322\" height=\"322\" style=\"margin: 10px; float: right;\" srcset=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2021\/07\/Aefat_investigadores.jpg 1024w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2021\/07\/Aefat_investigadores-300x300.jpg 300w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2021\/07\/Aefat_investigadores-150x150.jpg 150w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2021\/07\/Aefat_investigadores-768x768.jpg 768w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2021\/07\/Aefat_investigadores-12x12.jpg 12w\" sizes=\"(max-width: 322px) 100vw, 322px\" \/>La Universitat Pompeu Fabra (UPF) ha comenzado a trabajar junto con la Cl\u00ednica Universidad de Navarra en una ampliaci\u00f3n del proyecto de investigaci\u00f3n de la <strong>ataxia telangiectasia<\/strong> (AT) que la entidad navarra estaba desarrollando desde 2018. Un proyecto que seguir\u00e1 financiado por nuestra asociaci\u00f3n, Aefat, que agrupa a m\u00e1s de 30 pacientes en Espa\u00f1a, la mayor\u00eda de ellos ni\u00f1os y j\u00f3venes.<\/p>\n<p style=\"text-align: justify;\">Esta ampliaci\u00f3n del convenio, al que se adhiere la UPF, se desarrollar\u00e1 durante <strong>18 meses<\/strong> y seguir\u00e1 enfocado a <strong>resolver la inmunodeficiencia primaria<\/strong> que va asociada a esta enfermedad rara que a\u00fan no tiene cura ni tratamiento. La ataxia telangiectasia y esa inmunodeficiencia conlleva hospitalizaciones frecuentes y fallecimientos de los afectados que viven con esta enfermedad neurodegenerativa, bien por complicaciones respiratorias o bien por algunos tipos de c\u00e1ncer.<\/p>\n<p style=\"text-align: justify;\">La ampliaci\u00f3n de este proyecto de terapia g\u00e9nica, denominado \u201c<strong>Autotrasplante de m\u00e9dula \u00f3sea como cura para la inmunodeficiencia primaria caracter\u00edstica de la ataxia telangiectasia: nuevas herramientas de edici\u00f3n g\u00e9nica y acondicionamiento no genot\u00f3xico<\/strong>\u201d, asciende a <strong>83.000 euros<\/strong>. Aefat ya invirti\u00f3 150.000 euros en el <a href=\"https:\/\/www.cun.es\/actualidad\/noticias\/clinica-universidad-navarra-inicia-proyecto-investigacion-tratamiento-ataxia-telangiectasia\">proyecto inicial<\/a> desarrollado entre 2018 y 2021 por la Cl\u00ednica en colaboraci\u00f3n con su centro de investigaci\u00f3n, el Cima Universidad de Navarra.<\/p>\n<p style=\"text-align: justify;\">Los primeros resultados de este proyecto, ya prometedores, fueron <a href=\"https:\/\/www.nature.com\/articles\/s41467-018-08201-x\">publicados en 2019<\/a>. Y ahora Aefat, contando con el asesoramiento de su comit\u00e9 cient\u00edfico, ha puesto en contacto a las dos entidades al conocer la existencia de una <strong>nueva herramienta de edici\u00f3n gen\u00e9tica para genes de gran tama\u00f1o<\/strong> (como es el que contiene la mutaci\u00f3n de la AT) que est\u00e1 desarrollando el equipo del investigador Marc G\u00fcell en la UPF.<\/p>\n<p style=\"text-align: justify;\">Como explica <strong>Felipe Pr\u00f3sper<\/strong>, director del \u00c1rea de Terapia Celular y codirector del Servicio de Hematolog\u00eda de la Cl\u00ednica, responsable del proyecto junto a <strong>Borja S\u00e1ez<\/strong>, investigador del Cima, el nuevo proyecto conjunto defiende que \u201cexiste una <strong>alternativa terap\u00e9utica<\/strong> eficaz para solventar estas complicaciones, basada en el <strong>trasplante de m\u00e9dula \u00f3sea. <\/strong>Pero el trasplante no se utiliza en pacientes que tienen AT por dos motivos en particular. Primero, en estos pacientes no se puede aplicar la quimioterapia y\/o radioterapia que ser\u00eda necesaria para eliminar la m\u00e9dula antigua, por resultar demasiado t\u00f3xico. Y segundo, el gen ATM que causa la enfermedad es muy grande, eso dificulta editar o corregir gen\u00e9ticamente ese gen\u201d.<\/p>\n<p style=\"text-align: justify;\">Por estos motivos, <strong>la colaboraci\u00f3n entre ambas entidades quedar\u00eda repartida<\/strong>. Por parte de la Cl\u00ednica: desarrollo y uso de herramientas de precisi\u00f3n (inmunotoxinas espec\u00edficas de c\u00e9lula madre hematopoy\u00e9tica) que permitan realizar el trasplante sin necesidad de emplear quimioterapia. Por parte de UPF: t\u00e9cnicas de edici\u00f3n g\u00e9nica de nueva generaci\u00f3n que permiten la correcci\u00f3n de genes de gran tama\u00f1o.<\/p>\n<p style=\"text-align: justify;\">Seg\u00fan detalla el investigador <strong>Marc G\u00fcell<\/strong>, bioingeniero del Departamento de Ciencias Experimentales y de la Salud y responsable del Grupo de Investigaci\u00f3n en Biolog\u00eda Sint\u00e9tica Traslacional de la UPF, \u201cse ha demostrado que el alotrasplante \u2014el trasplante de un individuo a otro\u2014 de m\u00e9dula \u00f3sea restablece la funci\u00f3n inmunol\u00f3gica y la prevenci\u00f3n del linfoma en modelos de ratones. Por eso, por nuestra parte, en la UPF estamos desarrollado una tecnolog\u00eda denominada FiCAT <em>(Find and cut-and-transfer<\/em>) que combina la precisi\u00f3n de CRISPR-cas9 y la capacidad de transferencia de genes de transposasas. Hemos demostrado <em>in vivo <\/em>y <em>ex vivo<\/em> la entrega de genes de tama\u00f1o similar al de la ataxia telangiectasia. El objetivo es reconstituir la funcionalidad del gen en la m\u00e9dula \u00f3sea de los ratones con AT\u201d.<\/p>\n<p style=\"text-align: justify;\">Adem\u00e1s, Aefat tambi\u00e9n est\u00e1 <strong>cofinanciando<\/strong> otros dos proyectos de terapia g\u00e9nica junto con otras asociaciones internacionales: uno en la Universidad de Granada (Ignacio Molina) y otro la Universidad de Texas (Tanya Paull).<\/p>\n<p style=\"text-align: justify;\"><span style=\"color: #ff00ff;\"><strong>SOBRE LA ATAXIA TELANGIECTASIA<\/strong><\/span><\/p>\n<p style=\"text-align: justify;\">La <strong>ataxia telangiectasia <\/strong>(AT o A-T) es uno de los 300 tipos de ataxias que existen y provoca una grave discapacidad f\u00edsica progresiva. Es una enfermedad rara, gen\u00e9tica y neurodegenerativa que se manifiesta habitualmente antes de los dos a\u00f1os de edad, aunque hay afectados que han esperado hasta 10 a\u00f1os para el diagn\u00f3stico porque se confunde con otras patolog\u00edas. Afecta a las funciones de diferentes \u00f3rganos y provoca incapacidad de coordinar movimientos, p\u00e9rdida progresiva de movilidad (hacia los 9 a\u00f1os se necesita silla de ruedas), dificultad en el habla, estancamiento en el crecimiento, inmunodeficiencia, envejecimiento prematuro, dificultades para comer, problemas en la piel y en la visi\u00f3n, neumon\u00edas y otras complicaciones. Los pacientes son m\u00e1s proclives a los tumores malignos (como los sarcomas, linfomas, leucemias&#8230;).<\/p>\n<p><span style=\"color: #ff00ff;\"><strong>SOBRE AEFAT<\/strong><\/span><\/p>\n<p style=\"text-align: justify;\"><strong><a href=\"https:\/\/www.aefat.es\/\">Aefat<\/a><\/strong> es una asociaci\u00f3n sin \u00e1nimo de lucro creada en 2009 y declarada de utilidad p\u00fablica desde 2014. Tambi\u00e9n mantiene contacto cercano con las familias de afectados en Iberoam\u00e9rica, y se relaciona con asociaciones similares europeas y americanas. Aefat pertenece a FEDER (Federaci\u00f3n Espa\u00f1ola de Enfermedades Raras), FEDAES (Federaci\u00f3n de Ataxias de Espa\u00f1a) y la AT Global Alliance (<a href=\"http:\/\/www.cureat.org\/\">www.cureat.org<\/a>).<\/p>\n","protected":false},"excerpt":{"rendered":"<p style=\"text-align: justify;\"><img fetchpriority=\"high\" decoding=\"async\" class=\" alignright size-full wp-image-2412\" src=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2021\/07\/Aefat_investigadores.jpg\" alt=\"Aefat investigadores\" width=\"322\" height=\"322\" style=\"margin: 10px; float: right;\" srcset=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2021\/07\/Aefat_investigadores.jpg 1024w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2021\/07\/Aefat_investigadores-300x300.jpg 300w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2021\/07\/Aefat_investigadores-150x150.jpg 150w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2021\/07\/Aefat_investigadores-768x768.jpg 768w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2021\/07\/Aefat_investigadores-12x12.jpg 12w\" sizes=\"(max-width: 322px) 100vw, 322px\" \/>La Universitat Pompeu Fabra (UPF) ha comenzado a trabajar junto con la Cl\u00ednica Universidad de Navarra en una ampliaci\u00f3n del proyecto de investigaci\u00f3n de la <strong>ataxia telangiectasia<\/strong> (AT) que la entidad navarra estaba desarrollando desde 2018. Un proyecto que seguir\u00e1 financiado por nuestra asociaci\u00f3n, Aefat, que agrupa a m\u00e1s de 30 pacientes en Espa\u00f1a, la mayor\u00eda de ellos ni\u00f1os y j\u00f3venes.<\/p>\n","protected":false},"author":1,"featured_media":2412,"comment_status":"closed","ping_status":"open","sticky":true,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[811],"tags":[55,474,235,478,379,304,107,479,62,473,413,480,472,475,477,476],"class_list":["post-2413","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-investigacion","tag-ataxia-telangiectasia","tag-borja-saez","tag-cancer","tag-centro-de-investigacion-medica-aplicada","tag-cima","tag-clinica-universidad-de-navarra","tag-creer","tag-enfermedad-rara","tag-enfermedades-raras","tag-felipe-prosper","tag-inmunodeficiencia","tag-inmunodeficiencia-primaria","tag-marc-guell","tag-proyecto-de-investigacion","tag-universitat-pompeu-fabra","tag-upf"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.2 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Universitat Pompeu Fabra, Cl\u00ednica Universidad de Navarra y Aefat unen fuerzas para investigar la ataxia telangiectasia - Aefat<\/title>\n<meta name=\"robots\" content=\"noindex, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Universitat Pompeu Fabra, Cl\u00ednica Universidad de Navarra y Aefat unen fuerzas para investigar la ataxia telangiectasia - Aefat\" \/>\n<meta property=\"og:description\" content=\"La Universitat Pompeu Fabra (UPF) ha comenzado a trabajar junto con la Cl\u00ednica Universidad de Navarra en una ampliaci\u00f3n del proyecto de investigaci\u00f3n de la ataxia telangiectasia (AT) que la entidad navarra estaba desarrollando desde 2018. 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