{"id":21284,"date":"2023-11-03T21:49:09","date_gmt":"2023-11-03T21:49:09","guid":{"rendered":"https:\/\/dupmecp2.eu\/summary-of-the-mds-family-conference-in-manchester\/"},"modified":"2023-11-12T14:12:22","modified_gmt":"2023-11-12T14:12:22","slug":"resumen-conferencia-manchester","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/es\/resumen-conferencia-manchester\/","title":{"rendered":"Resumen de la conferencia de familias MDS en Manchester"},"content":{"rendered":"

El 28 de octubre, miembros de nuestro equipo: Ana (miembro de la junta directiva), Caroline (miembro de la junta directiva, vicepresidenta) y la Dra. Gudrun Gr\u00f6ppel (experta m\u00e9dica en SMD) asistieron a la reuni\u00f3n de familias de SMD en Manchester.<\/p>\n\n\n\n

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Mesa DupMECP2 - de izquierda a derecha Jasmin, Ana, Caroline, H\u00e9l\u00e8ne, Gudrun<\/figcaption><\/figure>\n<\/figure>\n\n\n\n

Fue una oportunidad fant\u00e1stica para que las familias afectadas y los cient\u00edficos se reunieran para compartir experiencias y escuchar sobre las formas de mejorar la calidad de vida de las personas afectadas, las actualizaciones de la investigaci\u00f3n y la perspectiva del ensayo cl\u00ednico de Ionis en 2024.<\/p>\n\n\n\n

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

He aqu\u00ed los puntos clave abordados durante las presentaciones:<\/p>\n\n\n\n

- El Dr. Pehlivan present\u00f3 los resultados de un estudio gen\u00e9tico que identific\u00f3 correlaciones entre las mutaciones gen\u00e9ticas y la forma en que el s\u00edndrome se manifiesta en los pacientes. Esta investigaci\u00f3n es un paso crucial en nuestra comprensi\u00f3n de este s\u00edndrome. Los asistentes tambi\u00e9n tuvieron la oportunidad de entregar muestras de sangre al Dr. Pehlivan para contribuir a futuras investigaciones gen\u00e9ticas. El Dr. Pehlivan nos dej\u00f3 tubos para muestras de sangre. Si est\u00e1 interesado en participar y contribuir a su investigaci\u00f3n, p\u00f3ngase en contacto con nosotros y le proporcionaremos los tubos y las directrices necesarias.<\/p>\n\n\n\n

- La Dra. Christine Coquery, de Ionis Pharmaceutical, present\u00f3 informaci\u00f3n actualizada sobre el programa de SMD con el oligonucle\u00f3tido en antisentido (ASO) denominado ION440. El estudio de historia natural (NHS) se llevar\u00e1 a cabo exclusivamente en EE.UU. y ha comenzado a reclutar pacientes. El ensayo intervencionista de ION440 est\u00e1 previsto en EE.UU., Canad\u00e1, Espa\u00f1a, Reino Unido, Francia y Australia, dependiendo de la aprobaci\u00f3n de las respectivas autoridades sanitarias. La administraci\u00f3n de ION440 en una fase inicial tendr\u00e1 por objeto evaluar la seguridad y tolerabilidad del ASO en un peque\u00f1o grupo de pacientes. Se facilitar\u00e1n m\u00e1s detalles una vez que el protocolo del estudio haya recibido la aprobaci\u00f3n de las autoridades.<\/p>\n\n\n\n

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Dra. Gudrun Gr\u00f6ppel, Caroline y Ana<\/figcaption><\/figure>\n\n\n\n
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Toma de muestras de sangre con la Dra. Hilde Van Esch<\/figcaption><\/figure>\n\n\n\n
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Dr. Pehlivan, Dr. Coquery, Caroline y Ana<\/figcaption><\/figure>\n<\/figure>\n\n\n\n

- Especialistas del Texas Children's Hospital de Houston ofrecieron una valiosa orientaci\u00f3n para tratar diversos s\u00edntomas relacionados con el s\u00edndrome, como controlar las infecciones recurrentes, tratar los retrasos globales en el desarrollo y abordar los problemas gastrointestinales.<\/p>\n\n\n\n

- El Dr. Santosh (King's College, Londres) present\u00f3 un estudio de caso que destaca el poder de la IA como herramienta \u00fatil para evaluar la relaci\u00f3n beneficio-riesgo de un tratamiento en pacientes j\u00f3venes no verbales, centr\u00e1ndose en los pacientes con Rett.<\/p>\n\n\n\n

- La Prof. Huda Zoghbi clausur\u00f3 la reuni\u00f3n expresando su gratitud a todas las familias, investigadores y donantes que han contribuido a este proyecto y a su progreso hacia la b\u00fasqueda de una cura. Su mensaje de esperanza resuena profundamente en la comunidad de SMD: \"Soy muy optimista sobre el futuro y os estoy muy agradecida.<\/p>\n\n\n\n

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

Al final del d\u00eda, los representantes de los grupos de defensa se reunieron en una cena ofrecida por Ionis. Fue un momento especial que reuni\u00f3 a todos, permiti\u00e9ndonos continuar nuestros importantes debates durante una comida.<\/p>\n\n\n\n

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Cena de clausura<\/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\n\n

Muchas gracias a MECP2 duplication UK, que organiz\u00f3 el acto. Las grabaciones de todas las presentaciones se compartir\u00e1n en breve con subt\u00edtulos en 13 idiomas diferentes. Muchas gracias a MECP2 duplication UK, organizador del acto. <\/p>\n\n\n\n

No dude en ponerse en contacto con nosotros si tiene alguna pregunta.<\/p>","protected":false},"excerpt":{"rendered":"

On the 28th of October, members of our team: Ana (board member), Caroline (board member, vice president) and Dr. Gudrun Gr\u00f6ppel (MDS Medical expert) attended the MDS family meeting in […]<\/p>","protected":false},"author":1,"featured_media":21277,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[87],"tags":[],"class_list":["post-21284","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news"],"yoast_head":"\nSummary of the MDS family conference in Manchester - DupMECP2<\/title>\n<meta name=\"description\" content=\"The conference was a fantastic opportunity for affected families and scientists to come together to share experiences and listen about ways to enhance the quality of life of affected people, research updates and perspective on Ionis\u2019 clinical trial.\" \/>\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\/resumen-conferencia-manchester\/?lang=en\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Summary of the MDS family conference in Manchester - 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