{"id":15960,"date":"2022-10-01T20:29:21","date_gmt":"2022-10-01T20:29:21","guid":{"rendered":"https:\/\/dupmecp2.eu\/riassunto-della-conferenza-delle-famiglie-a-houston-2022\/"},"modified":"2023-04-17T15:31:25","modified_gmt":"2023-04-17T15:31:25","slug":"resumen-de-la-conferencia-de-familias-en-houston-2022","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/es\/resumen-de-la-conferencia-de-familias-en-houston-2022\/","title":{"rendered":"Actas de la conferencia familiar de Houston, 2022"},"content":{"rendered":"<p>La conferencia bienal de las familias se celebrar\u00e1 en Houston (Texas, EE.UU.) del 23 al 24 de septiembre de 2022. Est\u00e1 organizada por el Profesor Zoghbi del Instituto de Investigaci\u00f3n Neurol\u00f3gica de Houston, Texas. El programa fue muy intenso y se centr\u00f3 en los avances cient\u00edficos del s\u00edndrome. <\/p>\n\n<figure class=\"wp-block-image size-large is-resized\"><img fetchpriority=\"high\" decoding=\"async\" src=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022_2-edited.jpg\" alt=\"\" class=\"wp-image-8778\" width=\"413\" height=\"551\" srcset=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022_2-edited.jpg 800w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022_2-edited-225x300.jpg 225w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022_2-edited-768x1024.jpg 768w\" sizes=\"(max-width: 413px) 100vw, 413px\" \/><figcaption class=\"wp-element-caption\">David e Prof. Huda Zoghbi<\/figcaption><\/figure>\n\n<p>David Covini, vicepresidente de la asociaci\u00f3n \"Les petits Mec P2\", presidente de la asociaci\u00f3n austriaca \"Lasst uns MDS heilen\" y miembro del comit\u00e9 cient\u00edfico de estas dos asociaciones, particip\u00f3 en el acto. Ha incontrato le altre famiglie, i membri delle associazioni americane e i ricercatori.<\/p>\n\n<p>David tambi\u00e9n se reuni\u00f3 con la Prof.ssa Zoghbi y su equipo. En esta reuni\u00f3n se habl\u00f3 de la marcha de los proyectos en curso con el fin de determinar los aspectos que requieren el apoyo y la contribuci\u00f3n de la asociaci\u00f3n.<\/p>\n\n<figure class=\"wp-block-image size-large is-resized\"><img decoding=\"async\" data-src=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022-1024x768.jpg\" alt=\"\" class=\"wp-image-8770 lazyload\" width=\"636\" height=\"477\" data-srcset=\"https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022-1024x768.jpg 1024w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022-300x225.jpg 300w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022-768x576.jpg 768w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022-1536x1152.jpg 1536w, https:\/\/dupmecp2.eu\/wp-content\/uploads\/2022\/11\/Houston2022.jpg 1600w\" data-sizes=\"(max-width: 636px) 100vw, 636px\" src=\"data:image\/svg+xml;base64,PHN2ZyB3aWR0aD0iMSIgaGVpZ2h0PSIxIiB4bWxucz0iaHR0cDovL3d3dy53My5vcmcvMjAwMC9zdmciPjwvc3ZnPg==\" style=\"--smush-placeholder-width: 636px; --smush-placeholder-aspect-ratio: 636\/477;\" \/><figcaption class=\"wp-element-caption\">Da sinistra a destra MD Pehlivan, Prof.ssa Zoghbi, David, Ak Muharrem, MD Suter<\/figcaption><\/figure>\n\n<p><\/p>\n\n<p>La Prof. ssa Huda Zoghbi, el Dr. Davut Pehlivan y el Dr. Bernhard Suter nos resumen los puntos clave que surgieron durante la conferencia:<\/p>\n\n<ul class=\"wp-block-list\">\n<li>Ionis Pharmaceuticals planea lanzar un estudio para monitorizar la evoluci\u00f3n natural de la enfermedad MDS en 2023. Este estudio se llevar\u00e1 a cabo en los Estados Unidos e incluir\u00e1 a unas 40 personas afectadas por el SMD. Este estudio realizar\u00e1 visitas trimestrales el primer a\u00f1o y semestrales el segundo. Ionis tiene intenci\u00f3n de empezar a colaborar con la FDA en 2023. Non si tratterebbe comunque di una vera e propria richiesta di approvazione IND (Investitional New Drug application). Los cambios futuros ser\u00e1n realizados por Ionis Pharmaceuticals.<\/li>\n<\/ul>\n\n<ul class=\"wp-block-list\">\n<li>El Dr. Davut Pehlivan y Sameer Bajikar han hecho balance de los estudios gen\u00f3micos. Estos estudios muestran la existencia de varios tipos de duplicaci\u00f3n (por ejemplo, semplice, complessa y triplicazione). La medici\u00f3n de los niveles de prote\u00edna MeCP2 determina las dosis de ASO (oligonucle\u00f3tido antisentido). Es posible acceder a este estudio desde cualquier parte del mundo.<\/li>\n<\/ul>\n\n<ul class=\"wp-block-list\">\n<li>La Dra. Mirjana Maletic-Savatic habl\u00f3 de los estudios sobre biomarcadores. Se est\u00e1n realizando estudios para identificar biomarcadores. Algunos de ellos parecen ser capaces de diferenciar entre MDS, Rett e individuos sanos. Nuestro objetivo es reducir la lista de candidatos a biomarcadores para identificar uno o dos biomarcadores muy fiables que puedan proporcionar informaci\u00f3n sobre la gravedad de la enfermedad y la respuesta a los ASO.<\/li>\n<\/ul>\n\n<ul class=\"wp-block-list\">\n<li>Dr.ssa. Sarika Peters y Jeff Neul hablaron de los progresos realizados en la medici\u00f3n de los resultados de un estudio cl\u00ednico. Si fara' lo sforzo di sviluppare una scala clinica multicentrica per poterla poi utilizzare nel successivo studio clinico.<\/li>\n<\/ul>\n\n<ul class=\"wp-block-list\">\n<li>El Dr. Zhenya Ivakine ha presentado un nuevo modelo de topo que representa tanto a MECP2 como a IRAK1 con el objetivo de proporcionar un mejor modelo animal para el estudio de los SMD. Tambi\u00e9n ha aportado una mejora sobre la edici\u00f3n del genoma basada en CRISPR\/Cas9 en el S\u00edndrome de Duplicaci\u00f3n de MECP2. Aunque los resultados son prometedores, ser\u00e1n necesarios m\u00e1s estudios de laboratorio antes de pasar a estudios en humanos.<\/li>\n<\/ul>\n\n<ul class=\"wp-block-list\">\n<li>El Dr. Ashley Anderson present\u00f3 los resultados de un cribado destinado a encontrar nuevos reguladores de MeCP2. La introducci\u00f3n de estos reguladores podr\u00eda conducir a nuevos tratamientos para curar esta enfermedad. Todos estos estudios se encuentran en su fase inicial y requieren m\u00e1s trabajo.<\/li>\n<\/ul>\n\n<ul class=\"wp-block-list\">\n<li>Los expertos cl\u00ednicos tambi\u00e9n han hablado de problemas comunes (por ejemplo, problemas gastrointestinales, epilepsia, infecciones frecuentes) en pacientes con duplicidad. Dado que la epilepsia es el principal problema que provoca la regresi\u00f3n de los pacientes y que no existen directrices claras para tratar las crisis, tienen intenci\u00f3n de poner en marcha una amplia encuesta.<\/li>\n<\/ul>\n\n<p><\/p>","protected":false},"excerpt":{"rendered":"<p>La conferenza biennale delle famiglie si e\u2019 tenuta a Houston (Texas, USA) dal 23 al 24 settembbre 2022. E\u2019 stata organizzata dal Prof. Zoghbi dell\u2019Istitituto di Ricerca Neurologico di Houston, [&hellip;]<\/p>","protected":false},"author":2,"featured_media":13135,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[137],"tags":[],"class_list":["post-15960","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-notizie"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v25.8 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Riassunto della conferenza delle famiglie a Houston, 2022 - DupMECP2<\/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:\/\/dupmecp2.eu\/es\/resumen-de-la-conferencia-de-familias-en-houston-2022\/?lang=it\" \/>\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 a Houston, 2022 - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"La conferenza biennale delle famiglie si e\u2019 tenuta a Houston (Texas, USA) dal 23 al 24 settembbre 2022. 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