{"id":7361,"date":"2022-10-01T20:29:21","date_gmt":"2022-10-01T20:29:21","guid":{"rendered":"http:\/\/carola.wwwnl1-sr12.supercp.com\/2022\/10\/01\/zusammenfassung-der-us-familienkonferenz-2022\/"},"modified":"2022-12-14T15:57:04","modified_gmt":"2022-12-14T15:57:04","slug":"resumen-de-la-conferencia-familiar-de-ee-uu-de-2022","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/es\/resumen-de-la-conferencia-familiar-de-ee-uu-de-2022\/","title":{"rendered":"Resumen de la Conferencia Familiar Estadounidense de 2022"},"content":{"rendered":"

La segunda Conferencia Familiar se celebrar\u00e1 del 23 al 24 de septiembre de 2022 en Houston (Texas, EE.UU.). September 2022 in Houston (Texas, USA) statt. Fue organizada por el Prof. Huda Zoghbi del Neurologischen Forschungsinstitut (NRI, Houston, Texas). El programa fue muy bien acogido e incluy\u00f3 presentaciones sobre los fundamentos cient\u00edficos del s\u00edndrome. <\/p>\n\n

\"\"
David y Prof. Huda Zoghbi<\/figcaption><\/figure>\n\n

David Covini, Vicepresidente de la Asociaci\u00f3n Francesa \"Les petits Mec P2\", Presidente de la Asociaci\u00f3n Austriaca \"Lasst uns MDS heilen\" y miembro de nuestro Comit\u00e9 Cient\u00edfico, asisti\u00f3 a la conferencia. Acudi\u00f3 con las familias de los participantes, los patrocinadores, los miembros activos de las asociaciones estadounidenses y los patrocinadores.<\/p>\n\n

Anschlie\u00dfend wurde David von Prof. Huda Zoghbi und ihrem Team empfangen. Durante esta fase final se definieron los requisitos del proyecto y se determinaron las medidas que nos permitir\u00edan ayudar y contribuir.<\/p>\n\n

\"\"
Von links nach rechts: Dr. Pehlivan, Prof. Zoghbi, David, Ak Muharrem, Dr. Suter<\/figcaption><\/figure>\n\n

<\/p>\n\n

El Prof. Huda Zoghbi, el Dr. Davut Pehlivan y el Dr. Bernhard Suter se centrar\u00e1n m\u00e1s tarde en los puntos clave de la conferencia para nosotros:<\/p>\n\n

    \n
  • Ionis Pharmaceuticals ha anunciado la realizaci\u00f3n de un estudio bioqu\u00edmico o de historia natural para obtener m\u00e1s informaci\u00f3n sobre la causa natural del s\u00edndrome de hiperplasia de c\u00e9lulas mitocondriales MECP2 (SMD) en 2023. El estudio sobre la incidencia natural del s\u00edndrome de Guillain-Barr\u00e9 se llevar\u00e1 a cabo en los Estados Unidos y abarcar\u00e1 un n\u00famero aproximado de 40 personas con SMD. Por lo tanto, el estudio sobre la evoluci\u00f3n natural de la enfermedad en el 1er. Jahr viertelj\u00e4hrliche Besuche, gefolgt von halbj\u00e4hrlichen Besuchen im 2. Jahr. Jahr. Ionis Pharmaceuticals tiene previsto ponerse en contacto con la FDA en 2023. Es ist jedoch wichtig klarzustellen, dass es hierbei nicht um eine Einreichung oder Genehmigung einer IND (Investitional new drug application).<\/li>\n<\/ul>\n\n
      \n
    • El Dr. Davut Pehlivan y Sameer Bajikar hablan sobre los estudios gen\u00f3micos. Genomische Studien zeigen weiterhin, dass verschiedene Arten von Duplikationen (d.h. einfache - komplexe - Verdreifachung) und Messungen der Konzentration des MeCP2-Proteins werden die ASO-Dosierung bestimmen. La b\u00fasqueda de estudios gen\u00e9ticos est\u00e1 en marcha y usted puede participar desde cualquier parte del mundo.<\/li>\n<\/ul>\n\n
        \n
      • Dr. Mirjana Maletic-Savatic sprach \u00fcber die Biomarker-Studien. Actualmente se est\u00e1n llevando a cabo estudios sobre el desarrollo de biomarcadores. Se han identificado un gran n\u00famero de candidatos a biomarcadores que se encuentran entre los SMD, el Rett y las personas sanas. Nuestro objetivo es mejorar la lista de candidatos a biomarcadores mediante el estudio del NHS e identificar uno o dos biomarcadores estrella que ampl\u00eden la progresi\u00f3n de la enfermedad y la repercusi\u00f3n en la ASO.<\/li>\n<\/ul>\n\n
          \n
        • La Dra. Sarika Peters y Jeff Neul hablan sobre el desarrollo de los resultados. Se ha desarrollado una base de datos multidisciplinar de pruebas cl\u00ednicas con el objetivo de utilizarla en los pr\u00f3ximos estudios cl\u00ednicos.<\/li>\n<\/ul>\n\n
            \n
          • El Dr. Zhenya Ivakine habl\u00f3 sobre un nuevo modelo de manipulaci\u00f3n, en el que tanto MECP2 como IRAK1 tienen como objetivo desarrollar un mejor modelo de manipulaci\u00f3n para los estudios de SMD. Tambi\u00e9n ofreci\u00f3 informaci\u00f3n actualizada sobre la edici\u00f3n del genoma basada en CRISPR\/Cas9 para los SMD. A pesar de que los resultados son concluyentes, es necesario realizar m\u00e1s estudios, antes de comenzar con estudios en seres humanos.<\/li>\n<\/ul>\n\n
              \n
            • La Dra. Ashley Anderson present\u00f3 los resultados de un estudio previo sobre la b\u00fasqueda de reguladores de MeCP2. El hallazgo de reguladores \u00fanicos puede conducir a nuevas posibilidades de tratamiento, pero estos estudios se encuentran todav\u00eda en la fase inicial y requieren m\u00e1s estudios.<\/li>\n<\/ul>\n\n
                \n
              • Los expertos cl\u00ednicos hablan tambi\u00e9n de muchos problemas (por ejemplo, problemas gastrointestinales, epilepsia, infecciones graves) en los SMD. Teniendo en cuenta que la epilepsia es el problema principal, que causa complicaciones en los SMD, y que no existen directrices claras para el tratamiento m\u00e9dico de los derrames cerebrales, tenemos previsto iniciar un estudio exhaustivo para encontrar la mejor soluci\u00f3n para el tratamiento de los derrames cerebrales en los SMD.<\/li>\n<\/ul>\n\n

                <\/p>","protected":false},"excerpt":{"rendered":"

                Die zweij\u00e4hrliche Familienkonferenz fand vom 23. bis 24. September 2022 in Houston (Texas, USA) statt. Sie wurde von Prof. Huda Zoghbi vom Neurologischen Forschungsinstitut (NRI, Houston, Texas) organisiert. Das Programm […]<\/p>","protected":false},"author":2,"featured_media":6915,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"elementor_theme","format":"standard","meta":{"footnotes":""},"categories":[57],"tags":[],"class_list":["post-7361","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-aktualitat"],"yoast_head":"\nZusammenfassung der US-Familienkonferenz 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-familiar-de-ee-uu-de-2022\/?lang=de\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Zusammenfassung der US-Familienkonferenz 2022 - DupMECP2\" \/>\n<meta property=\"og:description\" content=\"Die zweij\u00e4hrliche Familienkonferenz fand vom 23. bis 24. 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