{"id":21240,"date":"2023-11-03T21:49:09","date_gmt":"2023-11-03T21:49:09","guid":{"rendered":"https:\/\/dupmecp2.eu\/?p=21240"},"modified":"2025-12-01T14:57:54","modified_gmt":"2025-12-01T13:57:54","slug":"conferencia-manchester","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/es\/conferencia-manchester\/","title":{"rendered":"Resumen de la conferencia familiar de Manchester"},"content":{"rendered":"

El 28 de octubre, miembros de nuestro equipo: Ana (miembro de la Junta Directiva), Caroline (miembro de la Junta Directiva, Vicepresidenta), Jasmin (Embajadora en Alemania) y la Dra. Gudrun Gr\u00f6ppel (experta m\u00e9dica en SMD) asistieron a la reuni\u00f3n familiar de SMD en Manchester.<\/p>\n\n\n\n

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

Fue una gran oportunidad para que las familias afectadas y los cient\u00edficos se reunieran para compartir sus experiencias y escuchar las formas de mejorar la calidad de vida de los afectados, 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 un resumen de los principales temas tratados 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 los s\u00edntomas del s\u00edndrome en los pacientes. Este estudio representa un importante paso adelante en nuestra comprensi\u00f3n de este s\u00edndrome. Los asistentes tambi\u00e9n tuvieron la oportunidad de donar sangre al Dr. Pehlivan para contribuir a la investigaci\u00f3n gen\u00e9tica. El Dr. Pehlivan nos dej\u00f3 tubos para las muestras de sangre. Si desea participar y contribuir a su investigaci\u00f3n, p\u00f3ngase en contacto con nosotros y le proporcionaremos los tubos y las instrucciones necesarias.<\/p>\n\n\n\n

- La Dra. Christine Coquery, de Ionis Pharmaceutical, present\u00f3 informaci\u00f3n actualizada sobre el proyecto de SMD con el oligonucle\u00f3tido en antisentido (ASO) denominado ION440. El Estudio de Historia Natural (Natural History Study, NHS), realizado exclusivamente en EE.UU., ha comenzado a reclutar pacientes. Est\u00e1 previsto que el ensayo cl\u00ednico de ION440 se lleve a cabo en Estados Unidos, Canad\u00e1, Espa\u00f1a, Reino Unido, Francia y Australia, previa aprobaci\u00f3n de las autoridades pertinentes. En la primera fase, se administrar\u00e1 ION440 para evaluar la seguridad y tolerabilidad de 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 reglamentaria.<\/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 valiosos consejos para tratar diversos s\u00edntomas relacionados con el s\u00edndrome, como infecciones recurrentes, retrasos generales en el desarrollo y problemas gastrointestinales.<\/p>\n\n\n\n

- El Dr. Santosh (King's College, Londres) present\u00f3 un estudio de caso que pone de relieve el potencial de la IA como herramienta \u00fatil para evaluar la relaci\u00f3n beneficio-riesgo del tratamiento en pacientes j\u00f3venes no verbales, en particular los que padecen el s\u00edndrome de Rett.<\/p>\n\n\n\n

- La profesora Huda Zoghbi clausur\u00f3 la conferencia expresando su gratitud a todas las familias, investigadores y donantes que han contribuido a este proyecto y a su avance hacia el descubrimiento de f\u00e1rmacos. Su mensaje de esperanza resuena profundamente en la comunidad de SMD: \"Soy muy optimista sobre el futuro y estoy muy agradecida.\"<\/p>\n\n\n\n

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

Al final de la jornada, los representantes de las asociaciones se reunieron en una cena organizada por Ionis. Fue un momento especial que reuni\u00f3 a todos y nos permiti\u00f3 continuar nuestros 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 por organizar el acto. Las presentaciones del d\u00eda se han grabado y se compartir\u00e1n en breve con subt\u00edtulos en 13 idiomas diferentes. <\/p>\n\n\n\n

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

Le 28 Octobre, des membres de notre \u00e9quipe : Ana (membre du conseil d’administration), Caroline (membre du conseil d’administration, vice-pr\u00e9sidente), Jasmin (Ambassadrice en allemagne) et le Dr. Gudrun Gr\u00f6ppel (expert […]<\/p>","protected":false},"author":1,"featured_media":21276,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[7],"tags":[],"class_list":["post-21240","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-actualite"],"yoast_head":"\nR\u00e9sum\u00e9 de la conf\u00e9rence des familles \u00e0 Manchester - DupMECP2<\/title>\n<meta name=\"description\" content=\"C'\u00e9tait une superbe occasion pour les familles touch\u00e9es et les scientifiques de se r\u00e9unir pour partager leurs exp\u00e9riences et entendre parler des moyens d'am\u00e9liorer la qualit\u00e9 de vie des personnes touch\u00e9es, des mises \u00e0 jour de la recherche et de la perspective de l'essai clinique d'Ionis.\" \/>\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\/conferencia-manchester\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"R\u00e9sum\u00e9 de la conf\u00e9rence des familles \u00e0 Manchester - 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