{"id":21299,"date":"2023-11-03T21:49:09","date_gmt":"2023-11-03T21:49:09","guid":{"rendered":"https:\/\/dupmecp2.eu\/riassunto-della-conferenza-delle-famiglie-mds-a-manchester\/"},"modified":"2025-12-01T14:57:47","modified_gmt":"2025-12-01T13:57:47","slug":"riassunto-conferenza-manchester","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/es\/riassunto-conferenza-manchester\/","title":{"rendered":"Informe de la Conferencia de Familias del MDS en Manchester"},"content":{"rendered":"

A finales de la semana pasada se celebr\u00f3 en Manchester la reuni\u00f3n de familias de SMD, en la que participaron varios miembros de nuestro equipo: Ana (miembro de la junta directiva), Caroline (miembro de la junta directiva y vicepresidenta) y la Dra. Gundrun Gr\u00f6ppel (experta m\u00e9dica en SMD). Gundrun Gr\u00f6ppel (experta m\u00e9dica en SMD).<\/p>\n\n

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La tavola di DupMECP2 - da sinistra a destra Jasmin, Ana, Caroline, H\u00e9l\u00e8ne, Gudrun<\/figcaption><\/figure>\n<\/figure>\n\n

Se trata de una oportunidad extraordinaria para que los familiares de las personas afectadas por el SMD y los cient\u00edficos se re\u00fanan con el fin de compartir experiencias y aprender formas de mejorar la calidad de vida de los pacientes, obtener novedades sobre la investigaci\u00f3n y las perspectivas de las pruebas cl\u00ednicas previstas para 2024.<\/p>\n\n

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

Este es un resumen de los principales argumentos debatidos durante la presentaci\u00f3n:<\/p>\n\n

- Dott. Pehlivan present\u00f3 los resultados de un estudio gen\u00e9tico que identific\u00f3 la correlaci\u00f3n entre la mutaci\u00f3n gen\u00e9tica y la manifestaci\u00f3n del s\u00edndrome en los pacientes. Este estudio representa un avance crucial en nuestra comprensi\u00f3n del s\u00edndrome. Los participantes tambi\u00e9n han tenido la oportunidad de donar muestras de sangre al Dr. Pehlivan para contribuir a futuros estudios gen\u00e9ticos. Pehlivan para contribuir a futuras investigaciones gen\u00e9ticas. El Dott. Pehlivan tambi\u00e9n ha proporcionado muestras para los campos de sangre. Si est\u00e1 interesado en participar y contribuir a la investigaci\u00f3n, p\u00f3ngase en contacto con nosotros. Le enviaremos los kits de prueba con las instrucciones pertinentes.<\/p>\n\n

- La Dra. Christine Coquery de Ionis Pharmaceutical ha informado sobre su programa de investigaci\u00f3n del SMD con el ASO ION440. El reclutamiento de pacientes para el estudio de la historia natural (NHS) ha comenzado en los Estados Unidos. El estudio cl\u00ednico se llevar\u00e1 a cabo en Canad\u00e1, Espa\u00f1a, Reino Unido, Francia y Australia, as\u00ed como en los Estados Unidos, con la aprobaci\u00f3n de las autoridades sanitarias competentes. Inicialmente, la administraci\u00f3n de ION440 tendr\u00e1 como objetivo evaluar la seguridad y la tolerabilidad de ION440 en un peque\u00f1o grupo de pacientes. Se facilitar\u00e1n m\u00e1s detalles cuando el protocolo del estudio haya sido aprobado por las autoridades.<\/p>\n\n

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Dr. Gudrun Gr\u00f6ppel, Caroline e Ana<\/figcaption><\/figure>\n\n\n\n
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Prevenci\u00f3n de la hemorragia con la Dra. Hilde Van Esch<\/figcaption><\/figure>\n\n\n\n
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Dr. Pehlivan, Dr. Coquery, Caroline e Ana<\/figcaption><\/figure>\n<\/figure>\n\n

Especialistas del Texas Children's Hospital de Houston han ofrecido valiosos consejos sobre c\u00f3mo tratar los s\u00edntomas t\u00edpicos del s\u00edndrome, como infecciones recurrentes, problemas de desarrollo y alteraciones gastrointestinales.<\/p>\n\n

- Il Dott. Santosh (King's College, Londra) present\u00f3 un estudio de caso que puso de relieve el potencial de la IA como herramienta \u00fatil para evaluar la relaci\u00f3n entre beneficios y riesgos en el tratamiento de pacientes j\u00f3venes que no son capaces de hablar, con especial atenci\u00f3n a los pacientes que padecen el s\u00edndrome de Rett.<\/p>\n\n

- La Prof. ssa Huda Zoghbi clausur\u00f3 la reuni\u00f3n expresando su gratitud a todas las familias, investigadores y simpatizantes que han contribuido a este proyecto y a sus avances en la b\u00fasqueda de una cura. Su mensaje de esperanza ha calado hondo en los corazones de la comunidad de SMD: \"Sono molto ottimista per il futuro e molto grata a tutti voi\".<\/p>\n\n

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

Al final de la jornada de trabajo, los representantes de las asociaciones presentes se reunieron en una comida patrocinada por Ionis. Fue un momento especial que reuni\u00f3 a todos, d\u00e1ndoles la oportunidad de continuar los importantes debates durante la comida.<\/p>\n\n

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Cena de despedida con Ionis<\/figcaption><\/figure>\n\n\n\n
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Caroline (DupMECP2) y Helen Coles-Harrington (MECP2 duplicaci\u00f3n Reino Unido)<\/figcaption><\/figure>\n<\/figure>\n\n

Gracias a \"MECP2 duplication UK\" por organizar el evento. Ya se ha realizado el registro de todas las ponencias en 13 idiomas. Si tiene alguna pregunta, no dude en ponerse en contacto con nosotros.<\/p>","protected":false},"excerpt":{"rendered":"

Lo scorso fine settimana si \u00e8 tenuto a Manchester il meeting delle famiglie MDS e alcuni membri del nostro team vi hanno partecipato: Ana (membro del consiglio), Caroline (membro del […]<\/p>","protected":false},"author":1,"featured_media":21279,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[137],"tags":[],"class_list":["post-21299","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-notizie"],"yoast_head":"\nRiassunto della conferenza delle famiglie MDS a Manchester - DupMECP2<\/title>\n<meta name=\"description\" content=\"E\u2019 stata un\u2019opportunit\u00e0 straordinaria per famigliari delle persone affette da MDS e scienziati di riunirsi allo scopo di condividere esperienze e apprendere modi per migliorare la qualit\u00e0 di vita dei pazienti, avere aggiornamenti sulla ricerca e prospettive sui test clinici.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/dupmecp2.eu\/es\/riassunto-conferenza-manchester\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Riassunto della conferenza delle famiglie MDS a Manchester - 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