{"id":119912,"date":"2024-07-25T11:00:34","date_gmt":"2024-07-25T09:00:34","guid":{"rendered":"https:\/\/ibecbarcelona.eu\/?p=119912"},"modified":"2024-07-25T12:34:00","modified_gmt":"2024-07-25T10:34:00","slug":"nuria-montserrat-receives-funding-from-aefat-to-advance-research-on-ataxia-telangiectasia","status":"publish","type":"post","link":"https:\/\/ibecbarcelona.eu\/es\/nuria-montserrat-receives-funding-from-aefat-to-advance-research-on-ataxia-telangiectasia\/","title":{"rendered":"N\u00faria Montserrat recibe financiaci\u00f3n de Aefat para avanzar en el estudio de la Ataxia Telangiectasia"},"content":{"rendered":"\n

N\u00faria Montserrat, profesora de investigaci\u00f3n ICREA en el Instituto de Bioingenier\u00eda de Catalu\u00f1a (IBEC), ha sido la receptora de dos significativas ayudas econ\u00f3micas que suman un total de 50.000 euros. Estos fondos est\u00e1n destinados a financiar un innovador proyecto cuyo objetivo es avanzar en el estudio de la Ataxia Telangiectasia, una enfermedad rara que afecta a ni\u00f1os, manifest\u00e1ndose antes de los dos a\u00f1os y provocando una grave discapacidad f\u00edsica progresiva.<\/h4>\n\n\n\n
\"\"<\/figure>\n\n\n\n

Aefat, la asociaci\u00f3n que agrupa a las familias afectadas por ataxia telangiectasia en Espa\u00f1a, ha gestionado estas dos ayudas provenientes de la Fundaci\u00f3n FEDER (Federaci\u00f3n Espa\u00f1ola de Enfermedades Raras) y de la Fundaci\u00f3n Inocente Inocente, que, con 25.000 euros cada una, han apoyado la investigaci\u00f3n que N\u00faria Montserrat y su equipo llevan a cabo desde enero en el IBEC.<\/p>\n\n\n\n

El proyecto \u00abModelling Ataxia Telangiectasia Pathogenesis and Therapeutics Using Human Pluripotent Stem Cells and Genetic Engineering\u00bb tiene como objetivo emplear ingenier\u00eda gen\u00e9tica y celular para crear c\u00e9lulas iPSc con las mutaciones espec\u00edficas de los pacientes. Este enfoque permitir\u00e1 desarrollar organoides cerebrales y explorar posibles procesos de edici\u00f3n g\u00e9nica para diversas mutaciones. Adem\u00e1s, el proyecto busca establecer una plataforma para el testado de f\u00e1rmacos, facilitando as\u00ed la prueba de posibles tratamientos terap\u00e9uticos antes de realizar ensayos cl\u00ednicos en pacientes.<\/p>\n\n\n\n

Los organoides cerebrales, creados en laboratorio para replicar las c\u00e9lulas y tejidos da\u00f1ados en los pacientes con ataxia telangiectasia (A-T), representan un avance significativo en la investigaci\u00f3n. Estos modelos aceleran el proceso de prueba de nuevos compuestos terap\u00e9uticos, que podr\u00edan mejorar la calidad de vida de los afectados. Este ambicioso proyecto cuenta con la colaboraci\u00f3n de la Plataforma de Biomodelos y Biobancos del Instituto de Salud Carlos III<\/a>, el Dr. Jordi Surrall\u00e9s del Instituto de Investigaci\u00f3n del Hospital Sant Pau, y el investigador Marc G\u00fcell de la Universitat Pompeu Fabra.<\/p>\n\n\n\n

Este proyecto ha sido uno de los siete seleccionados por la Fundaci\u00f3n FEDER en su VIII convocatoria del programa de ayudas a la investigaci\u00f3n de enfermedades raras, destac\u00e1ndose entre 52 propuestas. Adem\u00e1s, la Fundaci\u00f3n Inocente Inocente ha reconocido el valor del proyecto en su convocatoria de ayudas a entidades que trabajan con menores afectados por enfermedades raras en Espa\u00f1a.<\/p>\n\n\n\n

\"Activity<\/figure>\n\n\n\n

El presidente de Aefat, Patxi Vill\u00e9n, expres\u00f3 su agradecimiento por el apoyo recibido: \u201cLa investigaci\u00f3n nunca va todo lo r\u00e1pido que querr\u00edamos las familias, pero agradecemos enormemente el apoyo de entidades como Fundaci\u00f3n FEDER y Fundaci\u00f3n Inocente Inocente por estas iniciativas, porque nos dan esperanza\u201d.<\/p>\n\n\n\n

Aefat, fundada en 2009 y declarada de utilidad p\u00fablica desde 2014, sigue recaudando fondos a trav\u00e9s de diversas actividades ben\u00e9ficas y retos solidarios para financiar proyectos de investigaci\u00f3n y apoyar a las familias afectadas por la ataxia telangiectasia en Espa\u00f1a. Desde 2015, la asociaci\u00f3n ha invertido m\u00e1s de 660.000 euros en 12 proyectos de investigaci\u00f3n, tanto nacionales como internacionales, colaborando con asociaciones similares de otros pa\u00edses.<\/p>\n\n\n\n

Este apoyo financiero y el compromiso continuo con la investigaci\u00f3n reflejan el esfuerzo colectivo para encontrar una cura o tratamiento para la ataxia telangiectasia, brindando esperanza a las familias afectadas por esta enfermedad gen\u00e9tica, neurodegenerativa y multisist\u00e9mica.<\/p>\n\n\n\n

SOBRE LA ATAXIA TELANGIECTASIA<\/p>\n\n\n\n

La ataxia telangiectasia<\/a> (AT o A-T) es uno de los 300 tipos de ataxias que existen y provoca una grave discapacidad f\u00edsica progresiva. Se trata de una enfermedad multisist\u00e9mica que se manifiesta habitualmente antes de los dos a\u00f1os, 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. Por la misma mutaci\u00f3n, los pacientes son m\u00e1s proclives a los tumores malignos (como los sarcomas, linfomas, leucemias…).<\/p>\n\n\n\n

Para saber en 2 minutos qu\u00e9 es la ATAXIA TELANGIECTASIA<\/a> (v\u00eddeo explicado por familias y afectados de todo el mundo)<\/p>\n","protected":false},"excerpt":{"rendered":"

N\u00faria Montserrat, profesora de investigaci\u00f3n ICREA en el Instituto de Bioingenier\u00eda de Catalu\u00f1a (IBEC), ha sido la receptora de dos significativas ayudas econ\u00f3micas que suman un total de 50.000 euros. … Read more<\/a><\/p>\n","protected":false},"author":4,"featured_media":119915,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[94],"tags":[1945,1124,1781],"post_formats":[],"class_list":["post-119912","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-noticias-institucionales","tag-enfermedades-raras","tag-nuria-montserrat-es-2","tag-pluripotency-for-organ-regeneration-es"],"yoast_head":"\nN\u00faria Montserrat recibe financiaci\u00f3n de Aefat para avanzar en el estudio de la Ataxia Telangiectasia - Institute for Bioengineering of Catalonia<\/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:\/\/ibecbarcelona.eu\/es\/nuria-montserrat-receives-funding-from-aefat-to-advance-research-on-ataxia-telangiectasia\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"N\u00faria Montserrat recibe financiaci\u00f3n de Aefat para avanzar en el estudio de la Ataxia Telangiectasia - Institute for Bioengineering of Catalonia\" \/>\n<meta property=\"og:description\" content=\"N\u00faria Montserrat, profesora de investigaci\u00f3n ICREA en el Instituto de Bioingenier\u00eda de Catalu\u00f1a (IBEC), ha sido la receptora de dos significativas ayudas econ\u00f3micas que suman un total de 50.000 euros. ... 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