{"id":2538,"date":"2022-12-29T12:35:22","date_gmt":"2022-12-29T11:35:22","guid":{"rendered":"https:\/\/f101g.org\/2023-rumbo-al-manana\/"},"modified":"2026-08-11T14:10:13","modified_gmt":"2026-08-11T12:10:13","slug":"2023-rumbo-al-manana","status":"publish","type":"post","link":"https:\/\/f101g.org\/es\/2023-rumbo-al-manana\/","title":{"rendered":"2023: Rumbo al ma\u00f1ana"},"content":{"rendered":"<p style=\"text-align: justify;\">Estimados seguidores,<\/p>\n<p style=\"text-align: justify;\">Ante todo, queremos desearle unas felices fiestas y un pr\u00f3spero a\u00f1o 2023.<\/p>\n<h4 style=\"text-align: justify;\"><strong>De cara a 2022<\/strong><\/h4>\n<p style=\"text-align: justify;\">Tambi\u00e9n nos gustar\u00eda compartir con ustedes algunos de los principales hitos alcanzados por la Fundaci\u00f3n 101 Genomas en 2022.<\/p>\n<p style=\"text-align: justify;\">Este a\u00f1o hemos obtenido el acuerdo del comit\u00e9 de \u00e9tica de Erasme y de la FAMHP para abrir nuestro \u00abBioB\u00bb, nuestro propio biobanco para la conservaci\u00f3n a largo plazo del ADN biol\u00f3gico, que ya est\u00e1 operativo.<\/p>\n<p style=\"text-align: justify;\">Hemos finalizado nuestra \u00abNube Gen\u00f3mica\u00bb, es decir, nuestro biobanco-bioinform\u00e1tica para la conservaci\u00f3n y exploraci\u00f3n del ADN digitalizado (=secuenciado en WGS, Illumina, 30x), que ya es seguro y operativo.<\/p>\n<p style=\"text-align: justify;\">Hemos desarrollado nuestra \u00abGEMS App\u00bb, es decir, nuestra interfaz de gesti\u00f3n del consentimiento, que ahora permite a cualquier persona con s\u00edndrome de Marfan unirse al estudio GEMS y participar en la b\u00fasqueda de genes protectores (si le preocupa, no dude en unirse a GEMS hoy mismo:<strong> <a href=\"https:\/\/www.101gems.be\/\" target=\"_blank\" rel=\"noopener\">https:\/\/www.101gems.be\/<\/a><\/strong>).<\/p>\n<p style=\"text-align: justify;\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-2829 aligncenter\" src=\"https:\/\/f101g.org\/wp-content\/uploads\/2022\/12\/101genome_circle-1.png\" alt=\"\" width=\"530\" height=\"353\"><\/p>\n<h4 style=\"text-align: justify;\"><strong>La mayor cohorte WGS de Marfan<\/strong><\/h4>\n<p style=\"text-align: justify;\">En el momento de escribir estas l\u00edneas, 60 pacientes de Marfan de toda Europa se han unido ya al estudio GEMS. \u00a1Nuestra&nbsp;Genomic Cloud&nbsp;alberga actualmente 60 genomas completos (WGS), 111 exomas (WES) y 300 paneles, lo que la convierte en una de las mayores cohortes de pacientes de Marfan del mundo&nbsp;! <\/p>\n<p style=\"text-align: justify;\">Este recurso permite a los investigadores a\u00f1adir a las dimensiones tradicionales de la investigaci\u00f3n de laboratorio (modelos animales y c\u00e9lulas humanas reprogramadas (IPSC)) una tercera v\u00eda <em>in silico <\/em>que les permite explorar computacionalmente la forma en que los genes interact\u00faan entre s\u00ed. Este enfoque, basado en <em>pruebas<\/em> del mundo real, ayuda a validar (o invalidar) las observaciones realizadas en el laboratorio. <\/p>\n<p style=\"text-align: justify;\"><img loading=\"lazy\" decoding=\"async\" class=\"wp-image-2830 aligncenter\" src=\"https:\/\/f101g.org\/wp-content\/uploads\/2022\/12\/20221125-F101G-ABSM-3-flux-1.png\" alt=\"\" width=\"472\" height=\"318\"><\/p>\n<p style=\"text-align: justify;\">El ciclo que hemos puesto en marcha ya est\u00e1 operativo. Ya permite trabajar juntos a equipos de la UZA, la UZ de Gante, ERASME, el <em>Grupo de Aprendizaje Autom\u00e1tico<\/em> de la ULB y el<em>Instituto Interuniversitario de Bioinform\u00e1tica de Bruselas<\/em> (ib)\u00b2. <\/p>\n<p style=\"text-align: justify;\">Nuestro proyecto est\u00e1 ahora listo para crecer y reunir la mayor cohorte posible de Marfan y ampliarlo a otras enfermedades raras que podr\u00e1n beneficiarse de la experiencia adquirida y de los datos ya recogidos.<\/p>\n<h4 style=\"text-align: justify;\"><strong>En el camino hacia el ma\u00f1ana<\/strong><\/h4>\n<p style=\"text-align: justify;\">Para ponernos \u00aben camino hacia el ma\u00f1ana\u00bb, necesitamos tu apoyo hoy.<\/p>\n<p style=\"text-align: justify;\">Al apoyar nuestro proyecto, no est\u00e1 apoyando a un solo ni\u00f1o, un solo proyecto de investigaci\u00f3n o una sola enfermedad rara, sino que est\u00e1 apoyando un proyecto que tiene el potencial de beneficiar a muchas enfermedades raras, a muchos equipos de investigaci\u00f3n y a muchos pacientes y sus familias.<\/p>\n<p style=\"text-align: justify;\">Al apoyar a la Fundaci\u00f3n 101 Genomas, est\u00e1 poniendo la gen\u00f3mica al servicio de las enfermedades raras.<\/p>\n<p style=\"text-align: justify;\">Como nuestro fondo est\u00e1 acogido a la Fundaci\u00f3n Rey Balduino, sus donaciones son deducibles de impuestos en casi cualquier parte del mundo, dependiendo del r\u00e9gimen fiscal vigente en su pa\u00eds de residencia. Y un a\u00f1o m\u00e1s, un generoso donante duplica las donaciones realizadas a la Fundaci\u00f3n 101 Genomas, hasta un total de 35.000 euros. <\/p>\n<p style=\"text-align: justify;\">As\u00ed que no espere m\u00e1s, done ahora mismo haciendo una donaci\u00f3n o estableciendo una orden permanente a favor del <strong>Fondo 101 Genomas<\/strong> alojado por la Fundaci\u00f3n Rey Balduino en la cuenta <strong>BE10 0000 0000 0404<\/strong> (BIC: BPOTBEB1) con la comunicaci\u00f3n estructurada: <strong>***017\/1730\/00036***<\/strong> (no olvide indicar esta comunicaci\u00f3n estructurada para asegurarse de que su donaci\u00f3n llegue al Fondo 101 Genomas).<\/p>\n<p style=\"text-align: justify;\">O done a trav\u00e9s de <strong><br \/>\n  <a href=\"https:\/\/donate.kbs-frb.be\/Fonds101Genomes\/~mon-don\" target=\"_blank\" rel=\"noopener\">la interfaz de donaciones en l\u00ednea proporcionada por la Fundaci\u00f3n Rey Balduino<\/a><br \/>\n<\/strong>.<\/p>\n<p style=\"text-align: justify;\">Gracias de nuevo por su apoyo.<\/p>\n<p style=\"text-align: justify;\">Michel, Ludivine y Romain<\/p>\n<p style=\"text-align: justify;\"><img loading=\"lazy\" decoding=\"async\" class=\"size-medium wp-image-2832 aligncenter\" src=\"https:\/\/f101g.org\/wp-content\/uploads\/2022\/12\/20221228-FRB-Logo-EN-1.png\" alt=\"\" width=\"300\" height=\"136\"><\/p>\n<p style=\"text-align: justify;\">&nbsp;<\/p>\n<h4 style=\"text-align: justify;\"><strong>Para saber m\u00e1s&#8230;<\/strong><\/h4>\n<p style=\"text-align: justify;\">Si quiere saber m\u00e1s, aprovechamos la ocasi\u00f3n para compartir con usted algunos enlaces:<\/p>\n<ul style=\"text-align: justify;\">\n<li style=\"text-align: left;\">Podcast en el que Ludivine y Romain explican el trabajo de la Fundaci\u00f3n 101 Genomas (FR):&nbsp;<a href=\"https:\/\/www.podcastics.com\/podcast\/episode\/lesprit-contre-la-maladie-a3p-human-207676\/?s=1777\" target=\"_blank\" rel=\"noopener\">https:\/\/www.podcastics.com\/podcast\/episode\/lesprit-contre-la-maladie-a3p-human-207676\/?s=1777<\/a><\/li>\n<li style=\"text-align: left;\">Publicaci\u00f3n de Colby Ford, Cloud Architect Azure, que describe la implementaci\u00f3n y las caracter\u00edsticas de la Nube Gen\u00f3mica de la 101 Genomes Foundation&nbsp;: <a href=\"https:\/\/tuplexyz.medium.com\/case-study-scaling-rare-disease-research-in-the-azure-cloud-3232e9d6074f\" target=\"_blank\" rel=\"noopener\">https:\/\/tuplexyz.medium.com\/case-study-scaling-rare-disease-research-in-the-azure-cloud-3232e9d6074f<\/a><\/li>\n<li style=\"text-align: left;\">Publicaci\u00f3n de Lotte Van Den Heuvel, estudiante de doctorado del Centro de Gen\u00e9tica M\u00e9dica de Amberes, que describe la investigaci\u00f3n de GEMS&nbsp;: <a href=\"https:\/\/biovox.eu\/marfan-patients-team-up-with-researchers-to-catch-their-silent-killer\/\" target=\"_blank\" rel=\"noopener\">https:\/\/biovox.eu\/marfan-patients-team-up-with-researchers-to-catch-their-silent-killer\/<\/a><\/li>\n<li style=\"text-align: left;\">Presentaci\u00f3n de la GEMS App durante la reuni\u00f3n de la Marfan Europe Network (FR\/EN\/NL): <a href=\"https:\/\/f101g.org\/es\/marfan-europe-network-que-hay-de-nuevo-desde-drammen\/\" target=\"_blank\" rel=\"noopener\">https:\/\/f101g.org\/marfan-europe-network-whats-new-since-drammen\/<\/a><\/li>\n<li style=\"text-align: left;\">Grabaci\u00f3n en Youtube de parte de la intervenci\u00f3n de Romain en la jornada \u00bb&nbsp;Marfan &#038; Innovation&nbsp;\u00bb organizada por la ABSM el 26 de noviembre en el Museo Belvue (FR)&nbsp;: <a href=\"https:\/\/youtu.be\/H99AZ-U92b8\">https:\/\/youtu.be\/H99AZ-U92b8<\/a><\/li>\n<li style=\"text-align: left;\">Publicaci\u00f3n de la red europea de referencia VASCERN, que menciona, en particular, la presentaci\u00f3n de la aplicaci\u00f3n GEMS durante los VASCERN Days 2022 (EN)&nbsp;: <a href=\"https:\/\/vascern.eu\/everything-you-wanted-to-know-about-vascern-days-2022\/\" target=\"_blank\" rel=\"noopener\">https:\/\/vascern.eu\/everything-you-wanted-to-know-about-vascern-days-2022\/<\/a><\/li>\n<li style=\"text-align: left;\">Publicaci\u00f3n de Sofia Papadimitriou, Bioinform\u00e1tica, Investigadora Postdoctoral F.R.S.-FNRS en la Universit\u00e9 libre de Bruxelles, cuyo trabajo se realiz\u00f3 en el marco de la acci\u00f3n F101G (EN)&nbsp;: <a href=\"https:\/\/www.sciencedirect.com\/science\/article\/pii\/S2666247722000823\" target=\"_blank\" rel=\"noopener\">https:\/\/www.sciencedirect.com\/science\/article\/pii\/S2666247722000823<\/a><\/li>\n<li style=\"text-align: left;\">P\u00e1gina web del grupo espejo belga del proyecto europeo 1 mill\u00f3n + de genomas, al que la Fundaci\u00f3n 101 Genomas ha sido invitada a unirse para compartir la experiencia adquirida en el \u00e1mbito de la gen\u00f3mica desde 2016 (EN): http: <a href=\"http:\/\/www.1mgbelgium.be\/workings-groups\" target=\"_blank\" rel=\"noopener\">\/\/www.1mgbelgium.be\/workings-groups<\/a><\/li>\n<\/ul>\n<p style=\"text-align: justify;\">&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Estimados seguidores, Ante todo, queremos desearle unas felices fiestas y un pr\u00f3spero a\u00f1o 2023. De cara a 2022 Tambi\u00e9n nos &hellip;<\/p>\n","protected":false},"author":2,"featured_media":3878,"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":"","jetpack_publicize_feature_enabled":true,"jetpack_social_post_already_shared":false,"jetpack_social_options":{"image_generator_settings":{"template":"highway","default_image_id":0,"font":"","enabled":false},"version":2},"jetpack_post_was_ever_published":false},"categories":[187],"tags":[],"class_list":["post-2538","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-evento"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.2 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>2023: Rumbo al ma\u00f1ana - 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\/2023-rumbo-al-manana\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"2023: Rumbo al ma\u00f1ana - Fundaci\u00f3n 101 Genomas - Gen\u00f3mica para las Enfermedades Raras\" \/>\n<meta property=\"og:description\" content=\"Estimados seguidores, Ante todo, queremos desearle unas felices fiestas y un pr\u00f3spero a\u00f1o 2023. 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