{"id":2814,"date":"2024-03-18T12:24:32","date_gmt":"2024-03-18T12:24:32","guid":{"rendered":"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/index.php\/2024\/03\/18\/organoides-edicion-genetica-ataxia-telangiectasia\/"},"modified":"2026-03-02T12:00:29","modified_gmt":"2026-03-02T12:00:29","slug":"organoides-edicion-genetica-ataxia-telangiectasia","status":"publish","type":"post","link":"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/index.php\/2024\/03\/18\/organoides-edicion-genetica-ataxia-telangiectasia\/","title":{"rendered":"Organoides y edici\u00f3n gen\u00e9tica para avanzar en la investigaci\u00f3n  de la ataxia telangiectasia"},"content":{"rendered":"<p style=\"text-align: justify;\"><img fetchpriority=\"high\" decoding=\"async\" class=\" size-full wp-image-2800\" src=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_002.jpg\" alt=\"IBEC_Ataxia_Telangiectasia_002.jpg\" width=\"1181\" height=\"787\" srcset=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_002.jpg 1181w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_002-300x200.jpg 300w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_002-1024x682.jpg 1024w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_002-768x512.jpg 768w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_002-18x12.jpg 18w\" sizes=\"(max-width: 1181px) 100vw, 1181px\" \/><\/p>\n<p style=\"text-align: justify;\"><span style=\"color: #ff00ff;\">(English version below)<\/span> La investigaci\u00f3n de la ataxia telangiectasia avanza m\u00e1s r\u00e1pido gracias al esfuerzo conjunto de investigadores, cl\u00ednicos y familias, tal como se demostr\u00f3 en el evento \u201c<strong>Avances en Ataxia Telangiectasia<\/strong>\u201d, organizado hace unos d\u00edas en Barcelona por el Instituto de Bioingenier\u00eda de Catalu\u00f1a (<strong>IBEC<\/strong>), en colaboraci\u00f3n con <a href=\"http:\/\/www.aefat.es\/\">Aefat<\/a>, la asociaci\u00f3n que agrupa a las familias afectadas por ataxia telangiectasia en Espa\u00f1a.<\/p>\n<p style=\"text-align: justify;\">El encuentro, celebrado en el Parque Cient\u00edfico de Barcelona (PCB) el pasado 8 de marzo de 2024, reuni\u00f3 a <strong>pacientes, familiares, investigadores y cl\u00ednicos<\/strong> con el prop\u00f3sito de informar sobre los proyectos de investigaci\u00f3n otorgados recientemente por Aefat, buscar v\u00ednculos entre investigadores y avanzar m\u00e1s r\u00e1pido en la b\u00fasqueda de una cura o tratamiento para esta enfermedad rara que afecta al menos a 40 ni\u00f1os y j\u00f3venes en Espa\u00f1a. Una enfermedad gen\u00e9tica, neurodegenerativa y multisist\u00e9mica, que provoca una grave discapacidad f\u00edsica progresiva, inmunodeficiencia y alta probabilidad de c\u00e1ncer, entre otras complicaciones.<\/p>\n<p style=\"text-align: justify;\"><img decoding=\"async\" class=\" size-full wp-image-2801\" src=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_004.jpg\" alt=\"IBEC_Ataxia_Telangiectasia_004.jpg\" width=\"1181\" height=\"787\" srcset=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_004.jpg 1181w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_004-300x200.jpg 300w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_004-1024x682.jpg 1024w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_004-768x512.jpg 768w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_004-18x12.jpg 18w\" sizes=\"(max-width: 1181px) 100vw, 1181px\" \/><\/p>\n<p style=\"text-align: justify;\">La jornada se inici\u00f3 con un peque\u00f1o aperitivo y la bienvenida a los asistentes de la mano de <strong>Teresa Sanchis<\/strong>, responsable de Estrategia del IBEC, que explic\u00f3 la visi\u00f3n general de la investigaci\u00f3n que se lleva a cabo en el centro, tambi\u00e9n con otras enfermedades raras, y el esp\u00edritu colaborativo del equipo. \u201cEn IBEC nos gusta conocer a los pacientes, colaborar con ellos y organizar jornadas de sensibilizaci\u00f3n y divulgaci\u00f3n cient\u00edfica, por responsabilidad hacia la sociedad\u201d.<\/p>\n<p style=\"text-align: justify;\"><img decoding=\"async\" class=\" size-full wp-image-2802\" src=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_007.jpg\" alt=\"IBEC_Ataxia_Telangiectasia_007.jpg\" width=\"1181\" height=\"787\" style=\"display: block; margin-left: auto; margin-right: auto;\" srcset=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_007.jpg 1181w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_007-300x200.jpg 300w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_007-1024x682.jpg 1024w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_007-768x512.jpg 768w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_007-18x12.jpg 18w\" sizes=\"(max-width: 1181px) 100vw, 1181px\" \/><\/p>\n<p style=\"text-align: justify;\"><strong>N\u00faria Montserrat<\/strong>, investigadora principal en el IBEC y beneficiaria de uno de los proyectos de investigaci\u00f3n financiados por Aefat desde enero, explic\u00f3 a los asistentes las claves de su misi\u00f3n. El proyecto de Montserrat, titulado&nbsp;<a href=\"https:\/\/ibecbarcelona.eu\/es\/organoides-para-estudiar-la-ataxia-telangiectasia\">\u201cModelling Ataxia Telangiectasia pathogenesis and therapeutics using human pluripotent stem cells and genetic engineering\u201d<\/a>, tiene como objetivo desarrollar organoides a partir de c\u00e9lulas madre embrionarias con las mutaciones de los pacientes, que permitan ensayar procesos de edici\u00f3n g\u00e9nica para distintas mutaciones y crear una plataforma para testar f\u00e1rmacos.<\/p>\n<p style=\"text-align: justify;\">\u201cPodemos crear c\u00e9lulas que se parezcan a las del \u00f3rgano que queremos estudiar, para probar medicamentos, ahorrar ensayos cl\u00ednicos y acortar tiempos en la investigaci\u00f3n\u201d, se\u00f1al\u00f3 la investigadora. \u201cTenemos <strong>tres objetivos<\/strong><strong> en dos a\u00f1os: <\/strong>producir tejidos que tengan las mutaciones de la ataxia telangiectasia, es decir, crear los organoides, y custodiarlos en los biobancos de la Plataforma ISCIII de Biomodelos y Biobancos, que en la actualidad cuenta con m\u00e1s de 60 unidades trabajando en red\u201d. Tambi\u00e9n a\u00f1adi\u00f3 que este proyecto \u201cva a permitir estudiar el proceso de los mecanismos celulares en el cerebelo, uno de los \u00f3rganos donde afecta esta enfermedad, y as\u00ed identificar v\u00edas moleculares para testar f\u00e1rmacos que pueden suponer un tratamiento para los pacientes, para avanzar m\u00e1s r\u00e1pido\u201d.<\/p>\n<p style=\"text-align: justify;\"><img loading=\"lazy\" decoding=\"async\" class=\" size-full wp-image-2803\" src=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_006_Nuria_Montserrat.jpg\" alt=\"IBEC_Ataxia_Telangiectasia_006_N\u00faria_Montserrat.jpg\" width=\"1181\" height=\"787\" style=\"display: block; margin-left: auto; margin-right: auto;\" srcset=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_006_Nuria_Montserrat.jpg 1181w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_006_Nuria_Montserrat-300x200.jpg 300w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_006_Nuria_Montserrat-1024x682.jpg 1024w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_006_Nuria_Montserrat-768x512.jpg 768w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_006_Nuria_Montserrat-18x12.jpg 18w\" sizes=\"(max-width: 1181px) 100vw, 1181px\" \/><\/p>\n<p style=\"text-align: justify;\">En palabras de N\u00faria Montserrat, coordinadora de la Plataforma ISCIII de Biomodelos y Biobancos, \u201cpara nosotros es un honor y una responsabilidad, y cuando terminemos, es fundamental que <strong>todo el conocimiento y tecnolog\u00edas que se generen est\u00e9n a disposici\u00f3n de la asociaci\u00f3n<\/strong> y los pacientes, para contribuir al progreso constante en la investigaci\u00f3n de la ataxia telangiectasia\u201d.<\/p>\n<p style=\"text-align: justify;\">Montserrat trabaja en colaboraci\u00f3n con otros investigadores que tambi\u00e9n intervinieron en el evento. El investigador <strong>Marc G\u00fcell<\/strong>, que ya colabora con Aefat, explic\u00f3 que utilizan Find Cut-and-Transfer (FiCAT), una herramienta para modificar el ADN, capaz de escribir con precisi\u00f3n genes peque\u00f1os y grandes. Esta nueva tecnolog\u00eda de escritura de genes, desarrollada por el equipo de investigadores del Laboratorio de Biolog\u00eda Sint\u00e9tica Traslacional de la UPF&nbsp;que dirige, permitir\u00e1 obtener terapias m\u00e1s efectivas y seguras en su futura aplicaci\u00f3n cl\u00ednica en pacientes con&nbsp;enfermedades gen\u00e9ticas como la ataxia telangiectasia, cuya mutaci\u00f3n se encuentra en un <strong>gen grande<\/strong>. Se basa en la combinaci\u00f3n de las prote\u00ednas modificadas CRISPR-cas y transposasa piggy Bac (PB).<\/p>\n<p style=\"text-align: justify;\"><img loading=\"lazy\" decoding=\"async\" class=\" size-full wp-image-2804\" src=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_022_Marc_Guell.jpg\" alt=\"IBEC_Ataxia_Telangiectasia_022_Marc_G\u00fcell.jpg\" width=\"1181\" height=\"787\" srcset=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_022_Marc_Guell.jpg 1181w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_022_Marc_Guell-300x200.jpg 300w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_022_Marc_Guell-1024x682.jpg 1024w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_022_Marc_Guell-768x512.jpg 768w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_022_Marc_Guell-18x12.jpg 18w\" sizes=\"(max-width: 1181px) 100vw, 1181px\" \/><\/p>\n<p style=\"text-align: justify;\">Marc G\u00fcell resalt\u00f3 que \u201chemos visto grandes avances en la modificaci\u00f3n gen\u00e9tica en los \u00faltimos 7 a\u00f1os, con el CRISPR, cuyas primeras terapias se aprobaron a finales del a\u00f1o pasado. La revoluci\u00f3n es <strong>unir biolog\u00eda y tecnolog\u00eda<\/strong>. Ahora con nuestras nuevas herramientas, no solo usamos CRISPR, le a\u00f1adimos editores de base, otra funcionalidad que nos permite cambiar las bases, ser m\u00e1s precisos, cambiar letras del ADN, y las aplicaciones ya est\u00e1n llegando a la cl\u00ednica, por ejemplo en c\u00e1ncer\u201d.<\/p>\n<p style=\"text-align: justify;\">\u201cCon la ataxia telangiectasia, estamos usando esta tecnolog\u00eda para transferir el gen ATM en c\u00e9lulas madre hematopoy\u00e9ticas, probando en ratones y luego en humanos. Ha sido complicado en ratones, y hemos cambiado a c\u00e9lulas humanas del Banco de Sangre de Barcelona. Hemos construido dos familias de vectores, vamos probando aumentando el porcentaje de c\u00e9lulas mutadas, y hemos elegido una zona segura del genoma para insertar en gen. <strong>Ha costado construir los vectores pero uno de ellos se inserta bien<\/strong>, hay buena expresi\u00f3n. Estamos intentando optimizar las condiciones para fases posteriores, para que el tratamiento no genere toxicidad\u201d.<\/p>\n<p style=\"text-align: justify;\">Tambi\u00e9n intervinieron <strong>Roberto Bilbao<\/strong>, director cient\u00edfico del Biobanco Vasco, uno de los biobancos de la Plataforma ISCIII de Biomodelos y Biobancos que participar\u00e1n en el proyecto; <strong>Jordi Surrall\u00e9s<\/strong>, director del Instituto de Investigaci\u00f3n del Hospital de la Santa Creu i Sant Pau, que aportar\u00e1 su experiencia en otras enfermedades raras; y <strong>Alejandra Darling<\/strong>, neur\u00f3loga pedi\u00e1trica del Hospital Sant Joan de D\u00e9u, que explic\u00f3 al detalle en qu\u00e9 consiste la enfermedad.<\/p>\n<p style=\"text-align: justify;\"><img loading=\"lazy\" decoding=\"async\" class=\" size-full wp-image-2805\" src=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_011_Jordi_Surralles.jpg\" alt=\"IBEC_Ataxia_Telangiectasia_011_Jordi_Surrall\u00e9s.jpg\" width=\"1181\" height=\"787\" style=\"display: block; margin-left: auto; margin-right: auto;\" srcset=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_011_Jordi_Surralles.jpg 1181w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_011_Jordi_Surralles-300x200.jpg 300w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_011_Jordi_Surralles-1024x682.jpg 1024w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_011_Jordi_Surralles-768x512.jpg 768w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_011_Jordi_Surralles-18x12.jpg 18w\" sizes=\"(max-width: 1181px) 100vw, 1181px\" \/><\/p>\n<p style=\"text-align: justify;\"><img loading=\"lazy\" decoding=\"async\" class=\" size-full wp-image-2806\" src=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_012_Alejandra_Darling.jpg\" alt=\"IBEC_Ataxia_Telangiectasia_012_Alejandra_Darling.jpg\" width=\"1181\" height=\"787\" style=\"display: block; margin-left: auto; margin-right: auto;\" srcset=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_012_Alejandra_Darling.jpg 1181w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_012_Alejandra_Darling-300x200.jpg 300w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_012_Alejandra_Darling-1024x682.jpg 1024w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_012_Alejandra_Darling-768x512.jpg 768w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_012_Alejandra_Darling-18x12.jpg 18w\" sizes=\"(max-width: 1181px) 100vw, 1181px\" \/><\/p>\n<p style=\"text-align: justify;\">La <strong><a href=\"https:\/\/www.youtube.com\/watch?v=rtwGsOa0kV4\">ataxia telangiectasia<\/a> <\/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, 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 style=\"text-align: justify;\"><img loading=\"lazy\" decoding=\"async\" class=\" size-full wp-image-2807\" src=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_017_Fatima_Nunez.jpg\" alt=\"IBEC_Ataxia_Telangiectasia_017_F\u00e1tima_N\u00fa\u00f1ez.jpg\" width=\"1181\" height=\"787\" style=\"display: block; margin-left: auto; margin-right: auto;\" srcset=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_017_Fatima_Nunez.jpg 1181w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_017_Fatima_Nunez-300x200.jpg 300w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_017_Fatima_Nunez-1024x682.jpg 1024w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_017_Fatima_Nunez-768x512.jpg 768w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_017_Fatima_Nunez-18x12.jpg 18w\" sizes=\"(max-width: 1181px) 100vw, 1181px\" \/><\/p>\n<p style=\"text-align: justify;\">Por su parte, <strong>F\u00e1tima N\u00fa\u00f1ez<\/strong>, adjunta de la Direcci\u00f3n de Investigaci\u00f3n, Innovaci\u00f3n y Aprendizaje del Hospital Sant Joan de D\u00e9u de Barcelona, present\u00f3 a los asistentes la <strong>Red \u00danicas<\/strong>, una iniciativa de este hospital con Feder (Federaci\u00f3n Espa\u00f1ola de Enfermedades Raras), para avanzar en investigaci\u00f3n y tratamientos de enfermedades raras en Espa\u00f1a, con la colaboraci\u00f3n ya de 30 centros. \u201cLa dispersi\u00f3n del conocimiento y la falta de coordinaci\u00f3n de sistemas sanitarios es un problema grave en enfermedades raras. Estamos creando una plataforma de datos integrada, queremos acompa\u00f1ar e informar a los pacientes, que vean a todos los especialistas en un d\u00eda, promover m\u00e1s diagn\u00f3sticos y terapias, proveer soluciones digitales tener datos compartidos, y poner en contacto a cl\u00ednicos e investigadores\u201d.<\/p>\n<p style=\"text-align: justify;\"><img loading=\"lazy\" decoding=\"async\" class=\" size-full wp-image-2808\" src=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_024.jpg\" alt=\"IBEC_Ataxia_Telangiectasia_024.jpg\" width=\"1181\" height=\"787\" style=\"display: block; margin-left: auto; margin-right: auto;\" srcset=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_024.jpg 1181w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_024-300x200.jpg 300w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_024-1024x682.jpg 1024w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_024-768x512.jpg 768w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_024-18x12.jpg 18w\" sizes=\"(max-width: 1181px) 100vw, 1181px\" \/><\/p>\n<p style=\"text-align: justify;\">Por \u00faltimo, <strong>Josefina Meng\u00edbar<\/strong>, t\u00eda de una ni\u00f1a con ataxia telangiectasia y bi\u00f3loga colaboradora en temas de investigaci\u00f3n de Aefat, agradeci\u00f3, en nombre de la asociaci\u00f3n, \u201cla excelencia profesional y humana\u201d de los investigadores y cl\u00ednicos que intervinieron en el evento y \u201csu buena disposici\u00f3n a colaborar entre equipos\u201d.<\/p>\n<p style=\"text-align: justify;\">Varias familias expresaron su emoci\u00f3n con sus <strong>testimonios<\/strong>, dando las gracias a los investigadores por su entusiasmo y dedicaci\u00f3n, y manifestando la esperanza en encontrar una cura o tratamiento.<\/p>\n<p style=\"text-align: justify;\">&nbsp;<\/p>\n<p style=\"text-align: justify;\"><img loading=\"lazy\" decoding=\"async\" class=\" size-full wp-image-2809\" src=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_AEFAT_afectados_pequenos_no_silla_ruedas_3.jpg\" alt=\"IBEC_AEFAT_afectados_peque\u00f1os_no_silla_ruedas_3.jpg\" width=\"1482\" height=\"900\" style=\"display: block; margin-left: auto; margin-right: auto;\" srcset=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_AEFAT_afectados_pequenos_no_silla_ruedas_3.jpg 1482w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_AEFAT_afectados_pequenos_no_silla_ruedas_3-300x182.jpg 300w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_AEFAT_afectados_pequenos_no_silla_ruedas_3-1024x622.jpg 1024w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_AEFAT_afectados_pequenos_no_silla_ruedas_3-768x466.jpg 768w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_AEFAT_afectados_pequenos_no_silla_ruedas_3-18x12.jpg 18w\" sizes=\"(max-width: 1482px) 100vw, 1482px\" \/><\/p>\n<p style=\"text-align: justify;\">&nbsp;<\/p>\n<p style=\"text-align: justify;\"><img loading=\"lazy\" decoding=\"async\" class=\" size-full wp-image-2810\" src=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IMG-20240309-WA0115.jpg\" alt=\"IMG-20240309-WA0115.jpg\" width=\"908\" height=\"577\" style=\"display: block; margin-left: auto; margin-right: auto;\" srcset=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IMG-20240309-WA0115.jpg 858w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IMG-20240309-WA0115-300x191.jpg 300w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IMG-20240309-WA0115-768x488.jpg 768w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IMG-20240309-WA0115-18x12.jpg 18w\" sizes=\"(max-width: 908px) 100vw, 908px\" \/><\/p>\n<p style=\"text-align: justify;\">Tras la clausura, los asistentes visitaron las instalaciones del IBEC y de la mano de la <strong>Dra. Carolina Tarantino<\/strong>, miembro del laboratorio de Nuria Montserrat, pudieron ser testigos de las investigaciones que se est\u00e1n llevando ya hoy en d\u00eda en el marco del proyecto.<\/p>\n<p style=\"text-align: justify;\">En la actualidad, con estos dos <a href=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/index.php\/2024\/01\/25\/nuevos-proyectos-investigacion-2024\/\">\u00faltimos proyectos<\/a>, Aefat est\u00e1 <strong>cofinanciando 9 proyectos de investigaci\u00f3n<\/strong> nacionales e internacionales, junto con asociaciones similares de otros pa\u00edses, y en total, desde 2015, suma m\u00e1s de <strong>600.000 euros invertidos<\/strong> en 12 proyectos de investigaci\u00f3n de la ataxia telangiectasia.<\/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. La asociaci\u00f3n pertenece a FEDER (Federaci\u00f3n Espa\u00f1ola de Enfermedades Raras) y la A-T Global Alliance (<a href=\"http:\/\/www.cureat.org\">www.cureat.org<\/a>). Aefat tambi\u00e9n mantiene contacto cercano con las familias de afectados en Iberoam\u00e9rica.<\/p>\n<p style=\"text-align: justify;\"><span style=\"color: #ff00ff;\"><strong>Para saber en 2 minutos qu\u00e9 es la ATAXIA TELANGIECTASIA (v\u00eddeo explicado por familias y afectados de todo el mundo):<\/strong><\/span><\/p>\n<p style=\"text-align: justify;\"><span style=\"color: #ff00ff;\"><a href=\"https:\/\/www.youtube.com\/watch?v=rtwGsOa0kV4\" style=\"color: #ff00ff;\"><\/a><a href=\"https:\/\/www.youtube.com\/watch?v=rtwGsOa0kV4\" style=\"color: #ff00ff;\">https:\/\/www.youtube.com\/watch?v=rtwGsOa0kV4<\/a><\/span><\/p>\n<p style=\"text-align: justify;\"><strong>Fotos: Xavier d\u2019Arquer<\/strong><\/p>\n<p style=\"text-align: justify;\"><img loading=\"lazy\" decoding=\"async\" class=\" size-full wp-image-2811\" src=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_044.jpg\" alt=\"IBEC_Ataxia_Telangiectasia_044.jpg\" width=\"1181\" height=\"787\" style=\"display: block; margin-left: auto; margin-right: auto;\" srcset=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_044.jpg 1181w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_044-300x200.jpg 300w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_044-1024x682.jpg 1024w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_044-768x512.jpg 768w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_044-18x12.jpg 18w\" sizes=\"(max-width: 1181px) 100vw, 1181px\" \/><\/p>\n<p style=\"text-align: justify;\">&nbsp;<\/p>\n<p style=\"text-align: justify;\"><img loading=\"lazy\" decoding=\"async\" class=\" size-full wp-image-2812\" src=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_049.jpg\" alt=\"IBEC_Ataxia_Telangiectasia_049.jpg\" width=\"1181\" height=\"787\" style=\"display: block; margin-left: auto; margin-right: auto;\" srcset=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_049.jpg 1181w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_049-300x200.jpg 300w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_049-1024x682.jpg 1024w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_049-768x512.jpg 768w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_049-18x12.jpg 18w\" sizes=\"(max-width: 1181px) 100vw, 1181px\" \/><\/p>\n<p style=\"text-align: justify;\"><img loading=\"lazy\" decoding=\"async\" class=\" size-full wp-image-2813\" src=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_048.jpg\" alt=\"IBEC_Ataxia_Telangiectasia_048.jpg\" width=\"1181\" height=\"787\" style=\"display: block; margin-left: auto; margin-right: auto;\" srcset=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_048.jpg 1181w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_048-300x200.jpg 300w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_048-1024x682.jpg 1024w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_048-768x512.jpg 768w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_048-18x12.jpg 18w\" sizes=\"(max-width: 1181px) 100vw, 1181px\" \/><\/p>\n<h2 style=\"text-align: justify;\"><span style=\"color: #ff00ff;\">Organoids and gene editing to advance ataxia telangiectasia research<\/span><\/h2>\n<p style=\"text-align: justify;\">Research into ataxia telangiectasia is advancing faster thanks to the joint efforts of researchers, clinicians and families, as demonstrated at the <strong>event \u201cAdvances in Ataxia Telangiectasia\u201d,<\/strong> organized a few days ago in Barcelona by the Institute of Bioengineering of Catalonia (<strong>IBEC<\/strong>), in collaboration with <strong>Aefat<\/strong>, the association that brings together families affected by ataxia telangiectasia in Spain.<\/p>\n<p style=\"text-align: justify;\">The meeting, held at the Barcelona Science Park (PCB) on March 8, 2024, brought t<strong>ogether patients, families, researchers and clinicians<\/strong> with the purpose of reporting on the research projects recently awarded by Aefat, seeking links between researchers and move faster in the search for a cure or treatment for this rare disease that affects at least 40 children and young people in Spain. A genetic, neurodegenerative and multisystem disease, which causes serious progressive physical disability, immunodeficiency and a high probability of cancer, among other complications.<\/p>\n<p style=\"text-align: justify;\">The day began with a small aperitif and a welcome to the attendees by <strong>Teresa Sanchis<\/strong>, head of IBEC Strategy, who explained the general vision of the research carried out at the center, also with other rare diseases, and the collaborative spirit of the team. \u201cAt IBEC we like to get to know patients, collaborate with them and organize awareness-raising and scientific dissemination sessions, out of responsibility towards society.\u201d<\/p>\n<p style=\"text-align: justify;\"><strong>N\u00faria Montserrat<\/strong>, principal researcher at IBEC and beneficiary of one of the research projects funded by Aefat since January, explained to the attendees the keys to her mission. The Montserrat project, entitled \u201c<strong>Modelling Ataxia Telangiectasia pathogenesis and therapeutics using human pluripotent stem cells and genetic engineering<\/strong>\u201d, aims to develop organoids from embryonic stem cells with the patients&#8217; mutations, which allow testing gene editing processes for different mutations and create a platform to test drugs.<\/p>\n<p style=\"text-align: justify;\">\u201cWe can create cells that resemble those of the organ we want to study, to test medications, save clinical trials and shorten research times,\u201d said the researcher. \u201cWe have <strong>three objectives in two years<\/strong>: produce tissues that have the ataxia telangiectasia mutations, that is, create the organoids, and store them in the biobanks of the ISCIII Biomodels and Biobanks Platform, which currently has more than 60 units. working in a network.\u201d He also added that this project \u00abwill allow us to study the process of cellular mechanisms in the cerebellum, one of the organs where this disease affects, and thus identify molecular pathways to test drugs that may provide a treatment for patients, to advance faster.\u00bb&nbsp;<\/p>\n<p style=\"text-align: justify;\">In the words of N\u00faria Montserrat, coordinator of the ISCIII Biomodels and Biobanks Platform, \u201cfor us it is an honor and a responsibility, and when we finish, it is essential that <strong>all the knowledge and technologies that are generated are available to the association and patients<\/strong>, to contribute to constant progress in research into ataxia telangiectasia.\u201d<\/p>\n<p style=\"text-align: justify;\">Montserrat works in collaboration with <strong>other researchers<\/strong> who also participated in the event. Researcher <strong>Marc G\u00fcell<\/strong>, who already collaborates with Aefat, explained that they use Find Cut-and-Transfer (FiCAT), a tool to modify DNA, capable of accurately writing small and large genes. This new gene writing technology, developed by the team of researchers from the UPF Translational Synthetic Biology Laboratory that he directs, will allow for more effective and safer therapies in their future clinical application in patients with genetic diseases such as ataxia telangiectasia, whose mutation It is found in a large gene. It is based on the combination of the modified proteins CRISPR-cas and piggy Bac (PB) transposase.<\/p>\n<p style=\"text-align: justify;\">Marc G\u00fcell highlighted that \u201cwe have seen great advances in genetic modification in the last 7 years, with CRISPR, whose first therapies were approved at the end of last year. The revolution is to unite biology and technology. <strong>Now with our new tools, we not only use CRISPR, we add base editors<\/strong>, another functionality that allows us to change the bases, be more precise, change DNA letters, and the applications are already reaching the clinic, for example in cancer\u00bb .<\/p>\n<p style=\"text-align: justify;\">\u201cWith ataxia telangiectasia, we are using this technology to transfer the ATM gene into hematopoietic stem cells, testing in mice and then in humans. It has been complicated in mice, and we have switched to human cells from the Barcelona Blood Bank.&nbsp;We have built two families of vectors, we are testing by increasing the percentage of mutated cells, and we have chosen a safe area of the genome to insert the gene. <strong>It has been difficult to build the vectors but one of them is inserted well<\/strong>, there is good expression. We are trying to optimize the conditions for later phases, so that the treatment does not generate toxicity\u201d.<\/p>\n<p style=\"text-align: justify;\"><strong>Roberto Bilbao<\/strong>, scientific director of the Basque Biobank, one of the biobanks of the ISCIII Platform of Biomodels and Biobanks that will participate in the project, also talked; <strong>Jordi Surrall\u00e9s<\/strong>, director of the Research Institute of the Hospital de la Santa Creu i Sant Pau, who will contribute his experience in other rare diseases; and Alejandra Darling, pediatric neurologist at the Sant Joan de D\u00e9u Hospital, who explained in detail what the disease consists of.<\/p>\n<p style=\"text-align: justify;\"><strong>Ataxia telangiectasia<\/strong> (AT or A-T) is one of the 300 types of ataxias that exist and causes severe progressive physical disability. It is a rare, genetic and neurodegenerative disease that usually manifests itself before the age of two, although there are patients who have waited up to 10 years for the diagnosis because it is confused with other pathologies. It affects the functions of different organs and causes inability to coordinate movements, progressive loss of mobility (around the age of 9 a wheelchair is needed), difficulty in speaking, stagnation in growth, immunodeficiency, difficulties in eating, skin problems. and in vision, pneumonia and other complications. Patients are more prone to malignant tumors (such as sarcomas, lymphomas, leukemias&#8230;).<\/p>\n<p style=\"text-align: justify;\">On the other hand, <strong>F\u00e1tima N\u00fa\u00f1ez<\/strong>, deputy of the Research, Innovation and Learning Directorate of the Sant Joan de D\u00e9u Hospital in Barcelona, presented to the attendees the \u00danicas Network, an initiative of this hospital with Feder (Spanish Federation of Rare Diseases), to advance research and treatments for rare diseases in Spain, with the collaboration of already 30 centers. \u201cThe dispersion of knowledge and the lack of coordination of health systems is a serious problem in rare diseases. We are creating an integrated data platform, we want to accompany and inform patients, see all specialists in one day, promote more diagnoses and therapies, provide digital solutions with shared data, and connect clinicians and researchers\u00bb.<\/p>\n<p style=\"text-align: justify;\">Finally, <strong>Josefina Meng\u00edbar<\/strong>, aunt of a girl with ataxia telangiectasia and a collaborating biologist in Aefat research issues, thanked, on behalf of the association, \u201cthe professional and human excellence\u201d of the researchers and clinicians who participated in the event and \u201c their willingness to collaborate between teams.\u201d<\/p>\n<p style=\"text-align: justify;\">Several families expressed their excitement with their <strong>testimonies<\/strong>, thanking the researchers for their enthusiasm and dedication, and expressing hope in finding a cure or treatment.<\/p>\n","protected":false},"excerpt":{"rendered":"<p style=\"text-align: justify;\"><img fetchpriority=\"high\" decoding=\"async\" class=\" size-full wp-image-2800\" src=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_002.jpg\" alt=\"IBEC_Ataxia_Telangiectasia_002.jpg\" width=\"1181\" height=\"787\" srcset=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_002.jpg 1181w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_002-300x200.jpg 300w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_002-1024x682.jpg 1024w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_002-768x512.jpg 768w, https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_002-18x12.jpg 18w\" sizes=\"(max-width: 1181px) 100vw, 1181px\" \/><\/p>\n<p style=\"text-align: justify;\"><span style=\"color: #ff00ff;\">(English version below)<\/span> La investigaci\u00f3n de la ataxia telangiectasia avanza m\u00e1s r\u00e1pido gracias al esfuerzo conjunto de investigadores, cl\u00ednicos y familias, tal como se demostr\u00f3 en el evento \u201c<strong>Avances en Ataxia Telangiectasia<\/strong>\u201d, organizado hace unos d\u00edas en Barcelona por el Instituto de Bioingenier\u00eda de Catalu\u00f1a (<strong>IBEC<\/strong>), en colaboraci\u00f3n con <a href=\"http:\/\/www.aefat.es\/\">Aefat<\/a>, la asociaci\u00f3n que agrupa a las familias afectadas por ataxia telangiectasia en Espa\u00f1a.<\/p>\n<p style=\"text-align: justify;\">El encuentro, celebrado en el Parque Cient\u00edfico de Barcelona (PCB) el pasado 8 de marzo de 2024, reuni\u00f3 a <strong>pacientes, familiares, investigadores y cl\u00ednicos<\/strong> con el prop\u00f3sito de informar sobre los proyectos de investigaci\u00f3n otorgados recientemente por Aefat, buscar v\u00ednculos entre investigadores y avanzar m\u00e1s r\u00e1pido en la b\u00fasqueda de una cura o tratamiento para esta enfermedad rara que afecta al menos a 40 ni\u00f1os y j\u00f3venes en Espa\u00f1a. Una enfermedad gen\u00e9tica, neurodegenerativa y multisist\u00e9mica, que provoca una grave discapacidad f\u00edsica progresiva, inmunodeficiencia y alta probabilidad de c\u00e1ncer, entre otras complicaciones.<\/p>\n","protected":false},"author":1,"featured_media":2800,"comment_status":"closed","ping_status":"open","sticky":true,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[811],"tags":[60,691,55,163,686,235,687,279,579,692,16,694,667,413,669,116,682,689,472,688,684,671,665,12,683,693,428,690,685],"class_list":["post-2814","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-investigacion","tag-aefat","tag-alejandra-darling","tag-ataxia-telangiectasia","tag-barcelona","tag-biobancos","tag-cancer","tag-crispr","tag-discapacidad","tag-enfermedad-genetica","tag-fatima-nunez","tag-genetica","tag-hospital-sant-joan-de-deu","tag-ibec","tag-inmunodeficiencia","tag-instituto-de-bioingenieria-de-cataluna","tag-investigacion","tag-investigadores","tag-jordi-surralles","tag-marc-guell","tag-modificacion-genetica","tag-neurodegenerativa","tag-neurology","tag-nuria-montserrat","tag-organoides","tag-parque-cientifico-de-barcelona","tag-red-unicas","tag-research","tag-roberto-bilbao","tag-teresa-sanchis"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.2 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Organoides y edici\u00f3n gen\u00e9tica para avanzar en la investigaci\u00f3n de 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=\"Organoides y edici\u00f3n gen\u00e9tica para avanzar en la investigaci\u00f3n de la ataxia telangiectasia - Aefat\" \/>\n<meta property=\"og:description\" content=\"(English version below) La investigaci\u00f3n de la ataxia telangiectasia avanza m\u00e1s r\u00e1pido gracias al esfuerzo conjunto de investigadores, cl\u00ednicos y familias, tal como se demostr\u00f3 en el evento \u201cAvances en Ataxia Telangiectasia\u201d, organizado hace unos d\u00edas en Barcelona por el Instituto de Bioingenier\u00eda de Catalu\u00f1a (IBEC), en colaboraci\u00f3n con Aefat, la asociaci\u00f3n que agrupa a las familias afectadas por ataxia telangiectasia en Espa\u00f1a. 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Una enfermedad gen\u00e9tica, neurodegenerativa y multisist\u00e9mica, que provoca una grave discapacidad f\u00edsica progresiva, inmunodeficiencia y alta probabilidad de c\u00e1ncer, entre otras complicaciones.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/index.php\/2024\/03\/18\/organoides-edicion-genetica-ataxia-telangiectasia\/\" \/>\n<meta property=\"og:site_name\" content=\"Aefat\" \/>\n<meta property=\"article:published_time\" content=\"2024-03-18T12:24:32+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-03-02T12:00:29+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_002.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1181\" \/>\n\t<meta property=\"og:image:height\" content=\"787\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"admin\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Escrito por\" \/>\n\t<meta name=\"twitter:data1\" content=\"admin\" \/>\n\t<meta name=\"twitter:label2\" content=\"Tiempo de lectura\" \/>\n\t<meta name=\"twitter:data2\" content=\"13 minutos\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/index.php\/2024\/03\/18\/organoides-edicion-genetica-ataxia-telangiectasia\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/index.php\/2024\/03\/18\/organoides-edicion-genetica-ataxia-telangiectasia\/\"},\"author\":{\"name\":\"admin\",\"@id\":\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/#\/schema\/person\/d75277649f873b670821832f92709a5f\"},\"headline\":\"Organoides y edici\u00f3n gen\u00e9tica para avanzar en la investigaci\u00f3n de la ataxia telangiectasia\",\"datePublished\":\"2024-03-18T12:24:32+00:00\",\"dateModified\":\"2026-03-02T12:00:29+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/index.php\/2024\/03\/18\/organoides-edicion-genetica-ataxia-telangiectasia\/\"},\"wordCount\":2640,\"publisher\":{\"@id\":\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/#organization\"},\"image\":{\"@id\":\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/index.php\/2024\/03\/18\/organoides-edicion-genetica-ataxia-telangiectasia\/#primaryimage\"},\"thumbnailUrl\":\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/wp-content\/uploads\/2024\/03\/IBEC_Ataxia_Telangiectasia_002.jpg\",\"keywords\":[\"aefat\",\"Alejandra Darling\",\"ataxia telangiectasia\",\"Barcelona\",\"Biobancos\",\"c\u00e1ncer\",\"CRISPR\",\"discapacidad\",\"enfermedad gen\u00e9tica\",\"F\u00e1tima N\u00fa\u00f1ez\",\"GEN\u00c9TICA\",\"Hospital Sant Joan de D\u00e9u\",\"IBEC\",\"inmunodeficiencia\",\"Instituto de Bioingenier\u00eda de Catalu\u00f1a\",\"Investigaci\u00f3n\",\"investigadores\",\"Jordi Surrall\u00e9s\",\"Marc G\u00fcell\",\"modificaci\u00f3n gen\u00e9tica\",\"neurodegenerativa\",\"neurology\",\"Nuria Montserrat\",\"ORGANOIDES\",\"Parque Cient\u00edfico de Barcelona\",\"Red \u00danicas\",\"research\",\"Roberto Bilbao\",\"Teresa Sanchis\"],\"articleSection\":[\"Investigaci\u00f3n\"],\"inLanguage\":\"es\"},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/index.php\/2024\/03\/18\/organoides-edicion-genetica-ataxia-telangiectasia\/\",\"url\":\"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/index.php\/2024\/03\/18\/organoides-edicion-genetica-ataxia-telangiectasia\/\",\"name\":\"Organoides y edici\u00f3n gen\u00e9tica para avanzar en la investigaci\u00f3n de la ataxia telangiectasia - 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