{"id":1988,"date":"2015-05-08T10:27:40","date_gmt":"2015-05-08T10:27:40","guid":{"rendered":"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/index.php\/2015\/05\/08\/en-espana-hay-solo-30-pacientes-con-esta-patologia-y-siete-de-ellos-el-23-son-de-granada\/"},"modified":"2026-03-02T12:02:59","modified_gmt":"2026-03-02T12:02:59","slug":"en-espana-hay-solo-30-pacientes-con-esta-patologia-y-siete-de-ellos-el-23-son-de-granada","status":"publish","type":"post","link":"https:\/\/exciting-elbakyan.137-74-93-36.plesk.page\/index.php\/2015\/05\/08\/en-espana-hay-solo-30-pacientes-con-esta-patologia-y-siete-de-ellos-el-23-son-de-granada\/","title":{"rendered":"En Espa\u00f1a hay solo 30 pacientes con esta patolog\u00eda y siete de ellos, el 23%, son de Granada"},"content":{"rendered":"<table style=\"color: #a52a2a; font-size: 16px; background-color: #e0ecf8;\">\n<tbody>\n<tr>\n<td style=\"padding: 10px;\" colspan=\"2\"><img decoding=\"async\" src=\"http:\/\/www.aefat.es\/images\/encuentrogranada.jpg\" alt=\"\" width=\"650\" height=\"\" \/><\/td>\n<\/tr>\n<tr>\n<td colspan=\"2\">La recogida de tapones de pl&aacute;stico financiar&aacute; el estudio de la ataxia<br \/>S. VALLEJO GRANADA | ACTUALIZADO 21.09.2013 &#8211; 01:00<\/p>\n<p>Hay muchas iniciativas solidarias para ayudar a personas enfermas a conseguir recursos o a buscar tratamientos para sus patolog&iacute;as. Una de las &uacute;ltimas y m&aacute;s extendida es la recogida de tapones de pl&aacute;stico para venderlos a las empresas de reciclado y conseguir dinero. Y, pese a la incredulidad mayoritaria de la ciudadan&iacute;a, arroja resultados.&nbsp;<\/p>\n<p>La Asociaci&oacute;n Espa&ntilde;ola de Familiares de enfermos de ataxia telangiectasia, una enfermedad considerada rara por el bajo n&uacute;mero de pacientes, ha conseguido con esta recogida solidaria la financiaci&oacute;n para iniciar el estudio del origen de la enfermedad. En total han conseguido m&aacute;s de 120.000 euros tambi&eacute;n con otras donaciones y campa&ntilde;as que van a permitir que se inicie un estudio de laboratorio sobre la enfermedad en Andaluc&iacute;a, concretamente en el Cabimer de Sevilla. La beca se ha concedido a Almudena Serrano, que explic&oacute; ayer que lo que se har&aacute; es intentar profundizar en el descubrimiento del nuevo papel del ATM, el gen mutado en esta enfermedad. \u00abSi se consigue saber c&oacute;mo act&uacute;a esa prote&iacute;na en este nuevo papel se puede llegar a comprender c&oacute;mo se producen las causas, s&iacute;ntomas y consecuencias de la patolog&iacute;a\u00bb, de la que se sabe todav&iacute;a muy poco.&nbsp;<\/p>\n<p>En Granada, la UGR con el grupo del profesor Ignacio Molina, en el que participa un equipo de pediatras del Hospital Virgen de las Nieves, estudia la caracterizaci&oacute;n gen&eacute;tica y molecular de c&eacute;lulas de estos pacientes con la intenci&oacute;n de desarrollar l&iacute;neas de terapia g&eacute;nica para mejorar el pron&oacute;stico de esta enfermedad.&nbsp;<\/p>\n<p>Tambi&eacute;n se est&aacute; investigando el f&aacute;rmaco hu&eacute;rfano Gestelmir, una mol&eacute;cula que aumenta la actividad implicada en el envejecimiento celular.&nbsp;<\/p>\n<p>Precisamente, estos d&iacute;as est&aacute;n en Granada, en el albergue de V&iacute;znar, pacientes con esta patolog&iacute;a y familias celebrando un encuentro de la Asociaci&oacute;n Espa&ntilde;ola de familias con Ataxia Telangiectasia. Una asociaci&oacute;n que da voz a los 30 afectados por esta enfermedad rara que hay en Espa&ntilde;a.&nbsp;<\/p>\n<p>De estos 30 casos, siete de ellos se dan en la provincia de Granada, lo que supone un 23% del total de los afectados en Espa&ntilde;a, uno de cada cuatro casos. Un dato elevado que, seg&uacute;n el pediatra del Hospital Virgen de las Nieves Juan Luis Santos, ha sido motivo de estudio. \u00abSe ha buscado si hay una alteraci&oacute;n gen&eacute;tica semejante en los pacientes\u00bb, confirm&oacute; el pediatra, y si en la actualidad no hay relaci&oacute;n de parentesco entre los afectados, s&iacute; se cree que pudo haber en antepasados lejanos alguna coincidencia en n&uacute;cleos peque&ntilde;os que derive ahora en esa transmisi&oacute;n gen&eacute;tica alterada.&nbsp;<\/p>\n<p>Con todo, Santos destac&oacute; la importancia de la atenci&oacute;n \u00abdiferente\u00bb a estos pacientes, que se diagnostican desde ni&ntilde;os. \u00abEs m&aacute;s importante darles la mano y recibir una sonrisa, compartir sus problemas y necesidades\u00bb, matiz&oacute; el doctor, quien dio todo el protagonismo a los pacientes y a sus familias.<\/p>\n<\/td>\n<\/tr>\n<tr>\n<td colspan=\"2\"><a href=\"http:\/\/www.granadahoy.com\/article\/granada\/1607001\/la\/recogida\/tapones\/plastico\/financiara\/estudio\/la\/ataxia.html\" target=\"_blank\">http:\/\/www.granadahoy.com\/article\/granada\/1607001\/la\/recogida\/tapones\/plastico\/financiara<\/a><\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n","protected":false},"excerpt":{"rendered":"<p>La recogida de tapones de pl&aacute;stico financiar&aacute; el estudio de la ataxiaS. VALLEJO GRANADA | ACTUALIZADO 21.09.2013 &#8211; 01:00 Hay muchas iniciativas solidarias para ayudar a personas enfermas a conseguir recursos o a buscar tratamientos para sus patolog&iacute;as. Una de las &uacute;ltimas y m&aacute;s extendida es la recogida de tapones de pl&aacute;stico para venderlos a [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[809],"tags":[],"class_list":["post-1988","post","type-post","status-publish","format-standard","hentry","category-sin-categoria"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.2 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>En Espa\u00f1a hay solo 30 pacientes con esta patolog\u00eda y siete de ellos, el 23%, son de Granada - 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=\"En Espa\u00f1a hay solo 30 pacientes con esta patolog\u00eda y siete de ellos, el 23%, son de Granada - Aefat\" \/>\n<meta property=\"og:description\" content=\"La recogida de tapones de pl&aacute;stico financiar&aacute; el estudio de la ataxiaS. 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