{"id":7076,"date":"2026-09-30T19:22:20","date_gmt":"2026-09-30T17:22:20","guid":{"rendered":"https:\/\/f101g.org\/?p=7076"},"modified":"2026-10-01T22:29:28","modified_gmt":"2026-10-01T20:29:28","slug":"101-genomes-da-la-bienvenida-a-alienor-y-amplia-su-enfoque-de-investigacion-para-incluir-el-sindrome-de-loeys-dietz","status":"publish","type":"post","link":"https:\/\/f101g.org\/es\/101-genomes-da-la-bienvenida-a-alienor-y-amplia-su-enfoque-de-investigacion-para-incluir-el-sindrome-de-loeys-dietz\/","title":{"rendered":"101 Genomes da la bienvenida a Ali\u00e9nor y ampl\u00eda su enfoque de investigaci\u00f3n para incluir el s\u00edndrome de Loeys-Dietz"},"content":{"rendered":"<p>Desde su fundaci\u00f3n, 101 Genome Foundation se ha centrado principalmente en el s\u00edndrome de Marfan. Hoy nos complace anunciar que ahora tambi\u00e9n incluiremos el s\u00edndrome de Loeys-Dietz (SLD), un trastorno hereditario del tejido conectivo estrechamente relacionado. <\/p>\n<p><strong>Comprender el s\u00edndrome de Loeys-Dietz<\/strong><\/p>\n<p>Descrito por primera vez en 2005, el s\u00edndrome de Loeys-Dietz es una afecci\u00f3n gen\u00e9tica rara que afecta al tejido conectivo del organismo. Comparte muchas caracter\u00edsticas con el s\u00edndrome de Marfan, en particular su efecto sobre el sistema cardiovascular. El SLD est\u00e1 causado por variantes en genes implicados en la v\u00eda de se\u00f1alizaci\u00f3n TGF-beta, y su presentaci\u00f3n puede variar ampliamente de una persona a otra. Al igual que el s\u00edndrome de Marfan, sigue siendo un \u00e1rea en la que se necesita urgentemente m\u00e1s investigaci\u00f3n gen\u00e9tica para desarrollar tratamientos eficaces.   <\/p>\n<p><strong>Damos la bienvenida a Ali\u00e9nor Lecomte<\/strong><\/p>\n<p>Esta ampliaci\u00f3n es posible gracias a la llegada de Ali\u00e9nor Lecomte, que se incorpora a 101 Genome Foundation como responsable de la comunidad de pacientes con SLD. Ali\u00e9nor aporta una combinaci\u00f3n poco com\u00fan de perspectivas a este puesto. Actualmente estudia medicina y tambi\u00e9n vive con el s\u00edndrome de Loeys-Dietz, lo que le proporciona tanto conocimientos cl\u00ednicos como una comprensi\u00f3n personal de los desaf\u00edos a los que se enfrentan los pacientes y sus familias.  <\/p>\n<p><strong>Qu\u00e9 significa esto para nuestro trabajo<\/strong><\/p>\n<p>Nuestro enfoque del SLD seguir\u00e1 el modelo que hemos desarrollado para el s\u00edndrome de Marfan. Trabajaremos para crear y movilizar comunidades de pacientes que viven con SLD y, a trav\u00e9s de nuestra plataforma de consentimiento din\u00e1mico GEMS, conectarlas con cient\u00edficos que realizan investigaci\u00f3n gen\u00f3mica. <\/p>\n<p><strong>Primera aparici\u00f3n en la reuni\u00f3n de Marfan Europe Network<\/strong><\/p>\n<p>El primer compromiso de Ali\u00e9nor en su nuevo puesto tuvo lugar el pasado fin de semana en la reuni\u00f3n de Marfan Europe Network (MEN) en Luxemburgo. El encuentro reuni\u00f3 a organizaciones de pacientes, familias y profesionales de toda Europa, y brind\u00f3 una valiosa oportunidad para presentar nuestra misi\u00f3n ampliada a la comunidad en general. Estamos orgullosos de formar parte de esta red en crecimiento, unidos por un compromiso compartido de encontrar tratamientos para el s\u00edndrome de Marfan y enfermedades raras relacionadas.  <\/p>\n<p><img loading=\"lazy\" decoding=\"async\" class=\"size-medium wp-image-7067 aligncenter\" src=\"https:\/\/f101g.org\/wp-content\/uploads\/2026\/09\/Marfan-Europe-Network-2026-420x315.jpg\" alt=\"\" width=\"420\" height=\"315\" srcset=\"https:\/\/f101g.org\/wp-content\/uploads\/2026\/09\/Marfan-Europe-Network-2026-420x315.jpg 420w, https:\/\/f101g.org\/wp-content\/uploads\/2026\/09\/Marfan-Europe-Network-2026-768x576.jpg 768w, https:\/\/f101g.org\/wp-content\/uploads\/2026\/09\/Marfan-Europe-Network-2026-1536x1152.jpg 1536w, https:\/\/f101g.org\/wp-content\/uploads\/2026\/09\/Marfan-Europe-Network-2026.jpg 1600w\" sizes=\"auto, (max-width: 420px) 100vw, 420px\" \/><\/p>\n<p><strong>\u00danase a nosotros<\/strong><\/p>\n<p>Si vive con el s\u00edndrome de Loeys-Dietz o el s\u00edndrome de Marfan, su participaci\u00f3n puede ayudar a impulsar la investigaci\u00f3n. Al unirse a nuestra comunidad a trav\u00e9s de la plataforma GEMS, puede contribuir a estudios que nos acercan a la comprensi\u00f3n de estas afecciones y al desarrollo de nuevos tratamientos, manteniendo al mismo tiempo el control total sobre c\u00f3mo se comparte su informaci\u00f3n. <\/p>\n<p>Para unirse a GEMS, visite: <a href=\"https:\/\/www.101gems.be\/\" target=\"_blank\" rel=\"noopener\">https:\/\/www.101gems.be\/<\/a><\/p>\n<div style=\"width: 960px;\" class=\"wp-video\"><video class=\"wp-video-shortcode\" id=\"video-7076-1\" width=\"960\" height=\"960\" preload=\"metadata\" controls=\"controls\"><source type=\"video\/mp4\" src=\"https:\/\/f101g.org\/wp-content\/uploads\/2026\/09\/Alienor-announcement.mp4?_=1\" \/><a href=\"https:\/\/f101g.org\/wp-content\/uploads\/2026\/09\/Alienor-announcement.mp4\">https:\/\/f101g.org\/wp-content\/uploads\/2026\/09\/Alienor-announcement.mp4<\/a><\/video><\/div>\n","protected":false},"excerpt":{"rendered":"<p>Desde su fundaci\u00f3n, 101 Genome Foundation se ha centrado principalmente en el s\u00edndrome de Marfan. Hoy nos complace anunciar que &hellip;<\/p>\n","protected":false},"author":2,"featured_media":7062,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_feature_clip_id":0,"_jetpack_memberships_contains_paid_content":false,"footnotes":"","jetpack_publicize_message":"{title}\r\n\r\n{excerpt}\r\n\r\n{url}","jetpack_publicize_feature_enabled":true,"jetpack_social_post_already_shared":true,"jetpack_social_options":{"image_generator_settings":{"template":"highway","default_image_id":0,"font":"","enabled":false},"version":2},"_wpas_customize_per_network":false,"jetpack_post_was_ever_published":false},"categories":[185,68],"tags":[],"class_list":["post-7076","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-enfermedades-raras","category-gems-es"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>101 Genomes da la bienvenida a Ali\u00e9nor y ampl\u00eda su enfoque de investigaci\u00f3n para incluir el s\u00edndrome de Loeys-Dietz - Fundaci\u00f3n 101 Genomas - Gen\u00f3mica para las Enfermedades Raras<\/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:\/\/f101g.org\/es\/101-genomes-da-la-bienvenida-a-alienor-y-amplia-su-enfoque-de-investigacion-para-incluir-el-sindrome-de-loeys-dietz\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"101 Genomes da la bienvenida a Ali\u00e9nor y ampl\u00eda su enfoque de investigaci\u00f3n para incluir el s\u00edndrome de Loeys-Dietz - Fundaci\u00f3n 101 Genomas - Gen\u00f3mica para las Enfermedades Raras\" \/>\n<meta property=\"og:description\" content=\"Desde su fundaci\u00f3n, 101 Genome Foundation se ha centrado principalmente en el s\u00edndrome de Marfan. 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