{"id":2169,"date":"2019-01-25T20:57:17","date_gmt":"2019-01-25T20:57:17","guid":{"rendered":"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/index.php\/2019\/01\/25\/avances-en-la-investigacion-para-buscar-un-tratamiento-a-la-ataxia-telangiectasia\/"},"modified":"2026-03-02T12:02:01","modified_gmt":"2026-03-02T12:02:01","slug":"avances-en-la-investigacion-para-buscar-un-tratamiento-a-la-ataxia-telangiectasia","status":"publish","type":"post","link":"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/index.php\/2019\/01\/25\/avances-en-la-investigacion-para-buscar-un-tratamiento-a-la-ataxia-telangiectasia\/","title":{"rendered":"Avances en la investigaci\u00f3n para buscar un tratamiento a la ataxia telangiectasia"},"content":{"rendered":"

Una primera parte de la investigaci\u00f3n se publicar\u00e1 en los pr\u00f3ximos d\u00edas en la prestigiosa publicaci\u00f3n online Nature Communications, de la revista Nature<\/strong><\/p>\n

Borja S\u00e1ez, investigador del proyecto que Aefat est\u00e1 financiando en la Cl\u00ednica Universidad de Navarra junto a Felipe Pr\u00f3sper, traslad\u00f3 a las familias los avances en su reciente encuentro anual en el centro CREER de Burgos<\/strong><\/p>\n

\"AEFAT<\/strong><\/p>\n

 <\/strong><\/p>\n

La investigaci\u00f3n avanza para buscar un tratamiento para la ataxia telangiectasia, enfermedad rara y neurodegenerativa que a\u00fan no tiene cura y que afecta a m\u00e1s de 30 ni\u00f1os y j\u00f3venes en Espa\u00f1a. As\u00ed informaron los investigadores a las familias que componen Aefat<\/a><\/strong>, la asociaci\u00f3n que agrupa a los afectados por esta enfermedad en Espa\u00f1a, que se reunieron el pasado fin de semana en su encuentro anual en el CREER<\/a> de Burgos, Centro de Referencia Estatal de Atenci\u00f3n a Personas con Enfermedades Raras y sus Familias.<\/p>\n

Borja S\u00e1ez<\/strong>, investigador de la Cl\u00ednica Universidad de Navarra<\/a> que codirige junto a Felipe Pr\u00f3sper el proyecto de investigaci\u00f3n que Aefat financia desde este a\u00f1o, inform\u00f3 a las familias de que la revista Nature Communications<\/strong> va publicar en los pr\u00f3ximos d\u00edas los primeros resultados del estudio. El art\u00edculo, fruto de una investigaci\u00f3n desarrollada junto a otros investigadores de las universidades de Harvard y Stanford en EEUU, confirma (tras su estudio precl\u00ednico en animales de laboratorio) que se podr\u00eda realizar un trasplante de c\u00e9lulas madre hematopoy\u00e9ticas que dar\u00eda soluci\u00f3n a dos de las complicaciones m\u00e1s acuciantes relacionadas con la ataxia telangiectasia: la inmunodeficiencia primaria y la predisposici\u00f3n al desarrollo de tumores hematol\u00f3gicos.<\/p>\n

A\u00fan pendiente de realizaci\u00f3n de una segunda fase del estudio en personas, los primeros resultados de esta t\u00e9cnica ofrecen esperanza para el tratamiento de \u00e9sta y otras enfermedades que provocan inmunodeficiencia primaria como el VIH o el s\u00edndrome de los \u201cni\u00f1os burbuja\u201d.<\/p>\n

Seg\u00fan explic\u00f3 Borja S\u00e1ez, \u201cel objetivo de este tratamiento preparativo no genot\u00f3xico<\/strong> es encontrar alternativas terap\u00e9uticas aplicables a la ataxia telangiectasia, un trasplante de c\u00e9lulas madre hematopoy\u00e9ticas que permita reemplazar el sistema inmune de los afectados\u201d. El investigador de la Cl\u00ednica Universidad de Navarra explic\u00f3 a las familias que el proceso se realizar\u00eda \u201caplicando a los afectados un f\u00e1rmaco para provocar que las c\u00e9lulas madre salgan de la m\u00e9dula y circulen por el torrente sangu\u00edneo, y as\u00ed poder aislar dichas c\u00e9lulas mediante una extracci\u00f3n de sangre. En laboratorio se realizar\u00eda la separaci\u00f3n de c\u00e9lulas madre, que ser\u00edan corregidas (editadas gen\u00e9ticamente) con la t\u00e9cnica de edici\u00f3n gen\u00e9tica CRISPR, que es una segunda fase de este estudio de investigaci\u00f3n que ya se ha comenzado en la Clinica Universidad de Navarra. Las c\u00e9lulas madre corregidas ser\u00edan implantadas de nuevo en la sangre del paciente haciendo uso del tratamiento preparativo no genot\u00f3xico<\/strong>\u201d. El objetivo es corregir las mutaciones (o errores en la secuencia de ADN) del gen ATM, causante de la enfermedad en dichas c\u00e9lulas madre hematopoy\u00e9ticas. Como consecuencia, se solventar\u00eda el problema de la inmunodeficiencia primaria de los afectados limitando la predisposici\u00f3n a infecciones recurrentes y al desarrollo de tumores hematol\u00f3gicos. <\/p>\n

En este proyecto, pionero en Espa\u00f1a, est\u00e1n implicados distintos especialistas de las \u00e1reas de terapia celular y terapia g\u00e9nica, y la unidad de trasplante hematopoy\u00e9tico de la Cl\u00ednica Universidad de Navarra.<\/p>\n

Fondos para investigar la enfermedad<\/strong><\/p>\n

Aefat, con el apoyo de las familias y su entorno, voluntarios y colaboradores, contin\u00faa organizando eventos deportivos y culturales solidarios<\/strong> para seguir recaudando fondos para investigar esta enfermedad. Con el apoyo de Zurich<\/a>, <\/strong>la asociaci\u00f3n participa con algunos de sus ni\u00f1os y j\u00f3venes afectados en las maratones de Sevilla, Barcelona, San Sebasti\u00e1n y M\u00e1laga<\/strong> (patrocinadas por la compa\u00f1\u00eda aseguradora).<\/p>\n

Adem\u00e1s, Aefat organiza desde hace seis a\u00f1os el festival solidario Aitzina Folk<\/strong> en Vitoria-Gasteiz y desde hace tres, la carrera solidaria \u201cTus pasos mueven el mundo\u201d, <\/strong>en M\u00e1laga, adem\u00e1s de participar en otras competiciones deportivas. Este a\u00f1o, adem\u00e1s, han surgido numerosas iniciativas populares solidarias en la zona de Amurrio, en \u00c1lava, en el entorno de Hodei, un ni\u00f1o de dos a\u00f1os reci\u00e9n diagnosticado con la enfermedad.<\/p>\n

Los primeros beneficios que lograron las familias de Aefat se invirtieron en una beca de investigaci\u00f3n iniciada hace cuatro a\u00f1os con el CABIMER<\/a> de Sevilla.Adem\u00e1s de dar visibilidad a la enfermedad y recaudar fondos para investigar, entre los objetivos de Aefat destaca la creaci\u00f3n de un comit\u00e9 m\u00e9dico estable<\/strong>, la publicaci\u00f3n de un protocolo asistencial<\/strong> para uso de m\u00e9dicos y familias, con el fin de poder facilitar el tratamiento de afectados, y tambi\u00e9n una gu\u00eda para los centros educativos<\/strong>.<\/p>\n

Como pr\u00f3xima cita deportiva, el Equipo Zurich-Aefat participar\u00e1 en las maratones de<\/strong> Sevilla<\/strong> (17 de febrero) y Barcelona<\/strong> (10 de marzo), y ha creado con la compa\u00f1\u00eda aseguradora un reto solidario en la plataforma Migranodearena.org<\/a>. Adem\u00e1s, la multinacional sevillana City Sightseeing<\/strong> se ha incorporado al reto y donar\u00e1 a Aefat 20 euros por cada camiseta con la imagen de \u201cCorre, Frena la AT\u201d que lleven los corredores en el Zurich Marat\u00f3n de Sevilla (inscripci\u00f3n gratuita aqu\u00ed<\/a>).  <\/p>\n

Las acciones solidarias deportivas de Aefat han contado tambi\u00e9n con el apoyo de empresas<\/strong> como Ayre Hoteles, Meli\u00e1 Hotels International, Olarain y MRW, por ejemplo.<\/p>\n","protected":false},"excerpt":{"rendered":"

Una primera parte de la investigaci\u00f3n se publicar\u00e1 en los pr\u00f3ximos d\u00edas en la prestigiosa publicaci\u00f3n online Nature Communications, de la revista Nature<\/strong><\/p>\n

Borja S\u00e1ez, investigador del proyecto que Aefat est\u00e1 financiando en la Cl\u00ednica Universidad de Navarra junto a Felipe Pr\u00f3sper, traslad\u00f3 a las familias los avances en su reciente encuentro anual en el centro CREER de Burgos<\/strong><\/p>\n

\"AEFAT<\/strong><\/p>\n","protected":false},"author":1,"featured_media":2081,"comment_status":"closed","ping_status":"open","sticky":true,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[811],"tags":[114,135,170,178,157],"class_list":["post-2169","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-investigacion","tag-beca","tag-clinica-universitaria-de-navarra","tag-encuentro-aefat","tag-granada-digital","tag-granada-hoy"],"acf":[],"yoast_head":"\nAvances en la investigaci\u00f3n para buscar un tratamiento a 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=\"Avances en la investigaci\u00f3n para buscar un tratamiento a la ataxia telangiectasia - Aefat\" 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