{"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":"zusammenfassung-der-us-familienkonferenz-2022","status":"publish","type":"post","link":"https:\/\/dupmecp2.eu\/el\/zusammenfassung-der-us-familienkonferenz-2022\/","title":{"rendered":"Zusammenfassung der US-Familienkonferenz 2022"},"content":{"rendered":"

Die zweij\u00e4hrliche Familienkonferenz fand vom 23. bis 24. \u03a3\u03b5\u03c0\u03c4\u03b5\u03bc\u03b2\u03c1\u03af\u03bf\u03c5 2022 \u03c3\u03c4\u03bf \u03a7\u03b9\u03bf\u03cd\u03c3\u03c4\u03bf\u03bd (\u03a4\u03ad\u03be\u03b1\u03c2, \u0397\u03a0\u0391) statt. \u0394\u03b9\u03bf\u03c1\u03b3\u03b1\u03bd\u03ce\u03b8\u03b7\u03ba\u03b5 \u03b1\u03c0\u03cc \u03c4\u03bf\u03bd \u03ba\u03b1\u03b8\u03b7\u03b3\u03b7\u03c4\u03ae Huda Zoghbi vom Neurologischen Forschungsinstitut (NRI, Houston, Texas). Das Programm war dicht gef\u00fcllt und umfasste Pr\u00e4sentationen \u00fcber die wissenschaftlichen Fortschritte des Syndroms. <\/p>\n\n

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

David Covini, Vizepr\u00e4sident der Franz\u00f6sischen Verein \" Les petits Mec P2 \", Pr\u00e4sident der \u00d6sterreichischen Verein \" Lasst uns MDS heilen\" \u03ba\u03b1\u03b9 Teil unseres wissenschaftlichen Ausschusses, besuchte die Veranstaltung vor Ort. Er traf sich mit den anwesenden Familien, den Vorsitzenden und aktiven \u00b5\u03ad\u03bb\u03b7 der US-amerikanischen Verb\u00e4nde und den Forschern.<\/p>\n\n

\u03a3\u03c4\u03b7 \u03c3\u03c5\u03bd\u03ad\u03c7\u03b5\u03b9\u03b1, \u03bf David \u03b1\u03c0\u03cc \u03c4\u03bf\u03bd \u03ba\u03b1\u03b8\u03b7\u03b3\u03b7\u03c4\u03ae Huda Zoghbi \u03ba\u03b1\u03b9 \u03c4\u03b7\u03bd \u03bf\u03bc\u03ac\u03b4\u03b1 \u03c4\u03bf\u03c5 \u03ad\u03bb\u03b1\u03b2\u03b5 \u03c4\u03b7\u03bd \u03b5\u03c1\u03b3\u03b1\u03c3\u03af\u03b1 \u03c4\u03bf\u03c5. \u039a\u03b1\u03c4\u03ac \u03c4\u03b7 \u03b4\u03b9\u03ac\u03c1\u03ba\u03b5\u03b9\u03b1 \u03b1\u03c5\u03c4\u03ae\u03c2 \u03c4\u03b7\u03c2 \u03c4\u03b5\u03bb\u03b9\u03ba\u03ae\u03c2 \u03c6\u03ac\u03c3\u03b7\u03c2, \u03ba\u03b1\u03b8\u03bf\u03c1\u03af\u03c3\u03c4\u03b7\u03ba\u03b1\u03bd \u03bf\u03b9 \u03b1\u03c0\u03b1\u03b9\u03c4\u03ae\u03c3\u03b5\u03b9\u03c2 \u03c4\u03bf\u03c5 \u03ad\u03c1\u03b3\u03bf\u03c5 \u03ba\u03b1\u03b9 \u03c0\u03c1\u03bf\u03c3\u03b4\u03b9\u03bf\u03c1\u03af\u03c3\u03c4\u03b7\u03ba\u03b1\u03bd \u03c4\u03b1 \u03bc\u03ad\u03c4\u03c1\u03b1 \u03c0\u03bf\u03c5 \u03b8\u03b1 \u03bc\u03b1\u03c2 \u03b5\u03c0\u03ad\u03c4\u03c1\u03b5\u03c0\u03b1\u03bd \u03bd\u03b1 \u03b2\u03bf\u03b7\u03b8\u03ae\u03c3\u03bf\u03c5\u03bc\u03b5 \u03ba\u03b1\u03b9 \u03bd\u03b1 \u03c3\u03c5\u03bd\u03b5\u03b9\u03c3\u03c6\u03ad\u03c1\u03bf\u03c5\u03bc\u03b5.<\/p>\n\n

\"\"
\u0391\u03c0\u03cc \u03b1\u03c1\u03b9\u03c3\u03c4\u03b5\u03c1\u03ac \u03c0\u03c1\u03bf\u03c2 \u03c4\u03b1 \u03b4\u03b5\u03be\u03b9\u03ac: Dr. Pehlivan, Prof. Zoghbi, David, Ak Muharrem, Dr. Suter<\/figcaption><\/figure>\n\n

<\/p>\n\n

\u039f \u03ba\u03b1\u03b8\u03b7\u03b3\u03b7\u03c4\u03ae\u03c2 Huda Zoghbi, \u03bf \u0394\u03c1 Davut Pehlivan \u03ba\u03b1\u03b9 \u03bf \u0394\u03c1 Bernhard Suter \u03b8\u03b1 \u03b5\u03c3\u03c4\u03b9\u03ac\u03c3\u03bf\u03c5\u03bd \u03b1\u03c1\u03b3\u03cc\u03c4\u03b5\u03c1\u03b1 \u03c3\u03c4\u03b1 \u03b2\u03b1\u03c3\u03b9\u03ba\u03ac \u03c3\u03b7\u03bc\u03b5\u03af\u03b1 \u03c4\u03bf\u03c5 \u03c3\u03c5\u03bd\u03b5\u03b4\u03c1\u03af\u03bf\u03c5 \u03b3\u03b9\u03b1 \u03b5\u03bc\u03ac\u03c2:<\/p>\n\n

    \n
  • Ionis Pharmaceuticals beabsichtigt, eine Beobachtungs- oder Natural-History-Studie durchzuf\u00fchren, um mehr \u00fcber den nat\u00fcrlichen Krankheitsverlauf von MECP2-Genduplikation Syndrome (MDS) im Jahr 2023. Die Studie zum nat\u00fcrlichen Krankheitsverlauf wird voraussichtlich in den Vereinigten Staaten durchzuf\u00fchren werden und wird eine begrenzte Anzahl von etwa 40 Personen mit MDS umfassen. Es wird davon ausgegangen, dass die Studie zum nat\u00fcrlichen Krankheitsverlauf im 1. Jahr viertelj\u00e4hrliche Besuche, gefolgt von halbj\u00e4hrlichen Besuchen im 2. Jahr. Ionis Pharmaceuticals beabsichtigt im Jahr 2023 mit der FDA in Kontakt zu treten. Es ist jedoch wichtig klarzustellen, dass es sich dies nicht um eine Einreichung oder Genehmigung einer IND (Investitional new drug application).<\/li>\n<\/ul>\n\n
      \n
    • \u039f\u03b9 Dr. Davut Pehlivan \u03ba\u03b1\u03b9 Sameer Bajikar \u03bc\u03b9\u03bb\u03bf\u03cd\u03bd \u03b3\u03b9\u03b1 \u03c4\u03b9\u03c2 genomischen Studien. Genomische Studien zeigen weiterhin, dass diverse Arten von Duplikationen (d.h. einfache - komplexe - Verdreifachung) und Messungen der Konzentration des MeCP2-Proteins werden die ASO-Dosierung bestimmen. \u0397 \u03b1\u03bd\u03b1\u03b6\u03ae\u03c4\u03b7\u03c3\u03b7 \u03b3\u03b5\u03bd\u03b5\u03c4\u03b9\u03ba\u03ce\u03bd \u03bc\u03b5\u03bb\u03b5\u03c4\u03ce\u03bd \u03c3\u03c5\u03bd\u03b5\u03c7\u03af\u03b6\u03b5\u03c4\u03b1\u03b9 \u03ba\u03b1\u03b9 \u03bc\u03c0\u03bf\u03c1\u03b5\u03af\u03c4\u03b5 \u03bd\u03b1 \u03c3\u03c5\u03bc\u03bc\u03b5\u03c4\u03ac\u03c3\u03c7\u03b5\u03c4\u03b5 \u03b1\u03c0\u03cc \u03bf\u03c0\u03bf\u03c5\u03b4\u03ae\u03c0\u03bf\u03c4\u03b5 \u03c3\u03c4\u03bf\u03bd \u03ba\u03cc\u03c3\u03bc\u03bf.<\/li>\n<\/ul>\n\n
        \n
      • \u0397 Dr. Mirjana Maletic-Savatic sprach \u00fcber die Biomarker-Studien. \u039f\u03b9 \u03bc\u03b5\u03bb\u03ad\u03c4\u03b5\u03c2 \u03b3\u03b9\u03b1 \u03c4\u03b7\u03bd \u03b1\u03bd\u03ac\u03c0\u03c4\u03c5\u03be\u03b7 \u03b2\u03b9\u03bf\u03b4\u03b5\u03b9\u03ba\u03c4\u03ce\u03bd \u03b2\u03c1\u03af\u03c3\u03ba\u03bf\u03bd\u03c4\u03b1\u03b9 \u03c3\u03b5 \u03b5\u03be\u03ad\u03bb\u03b9\u03be\u03b7. Eine Handvoll Biomarker-Kandidaten, die sich zwischen MDS, Rett und gesunden Menschen unterscheiden, wurden gefunden. Unser Ziel ist es, die Liste der Biomarker-Kandidaten durch die NHS-Studie einzugrenzen und ein oder zwei starke Biomarker zu identifizieren, die den Schweregrad der Krankheit und das Ansprechen auf ASO widerspiegeln.<\/li>\n<\/ul>\n\n
          \n
        • Dr. Sarika Peters und Jeff Neul sprachen \u00fcber die Entwicklung von Ergebnismessungen. Es wird eine Entwicklung einer multizentrischen Skala f\u00fcr klinische Eindr\u00fccke mit dem Ziel, die Skala in der kommenden klinischen Studie zu verwenden.<\/li>\n<\/ul>\n\n
            \n
          • \u039f Dr. Zhenya Ivakine \u03b1\u03bd\u03b1\u03c6\u03ad\u03c1\u03b8\u03b7\u03ba\u03b5 \u03c3\u03b5 \u03ad\u03bd\u03b1 \u03bd\u03ad\u03bf \u03bc\u03bf\u03bd\u03c4\u03ad\u03bb\u03bf Mausmodell, \u03c3\u03c4\u03bf \u03bf\u03c0\u03bf\u03af\u03bf \u03c4\u03cc\u03c3\u03bf \u03b7 MECP2 \u03cc\u03c3\u03bf \u03ba\u03b1\u03b9 \u03b7 IRAK1 \u03ad\u03c7\u03bf\u03c5\u03bd \u03c9\u03c2 \u03c3\u03c4\u03cc\u03c7\u03bf \u03c4\u03b7\u03bd \u03b1\u03bd\u03ac\u03c0\u03c4\u03c5\u03be\u03b7 \u03b5\u03bd\u03cc\u03c2 \u03ba\u03b1\u03bb\u03cd\u03c4\u03b5\u03c1\u03bf\u03c5 \u03bc\u03bf\u03bd\u03c4\u03ad\u03bb\u03bf\u03c5 \u03b3\u03b9\u03b1 MDS-\u03bc\u03b5\u03bb\u03ad\u03c4\u03b5\u03c2. \u03a0\u03b1\u03c1\u03b5\u03af\u03c7\u03b5 \u03b5\u03c0\u03af\u03c3\u03b7\u03c2 \u03bc\u03b9\u03b1 \u03b5\u03bd\u03b7\u03bc\u03ad\u03c1\u03c9\u03c3\u03b7 \u03c3\u03c7\u03b5\u03c4\u03b9\u03ba\u03ac \u03bc\u03b5 \u03c4\u03b7\u03bd \u03b5\u03c0\u03b5\u03be\u03b5\u03c1\u03b3\u03b1\u03c3\u03af\u03b1 \u03b3\u03bf\u03bd\u03b9\u03b4\u03b9\u03ce\u03bc\u03b1\u03c4\u03bf\u03c2 \u03bc\u03b5 \u03b2\u03ac\u03c3\u03b7 \u03c4\u03bf CRISPR\/Cas9 \u03b3\u03b9\u03b1 \u03c4\u03bf MDS. Obwohl die Ergebnisse ermutigend sind, sind jedoch weitere Laborstudien erforderlich, bevor mit Studien am Menschen begonnen werden kann.<\/li>\n<\/ul>\n\n
              \n
            • \u0397 Dr Ashley Anderson \u03c0\u03b1\u03c1\u03bf\u03c5\u03c3\u03af\u03b1\u03c3\u03b5 \u03c4\u03b1 \u03c0\u03c1\u03bf\u03b3\u03b5\u03bd\u03ad\u03c3\u03c4\u03b5\u03c1\u03b1 \u03b1\u03c0\u03bf\u03c4\u03b5\u03bb\u03ad\u03c3\u03bc\u03b1\u03c4\u03b1 \u03b5\u03bd\u03cc\u03c2 Screenings zur Suche nach Regulatoren von MeCP2 zu finden. Hemmung solcher Regulatoren k\u00f6nnte zu neuen Behandlungsm\u00f6glichkeiten f\u00fchren, aber diese Studien finden sich jedoch jedoch noch in der Anfangsphase und bed\u00fcrfen weiterer Untersuchungen.<\/li>\n<\/ul>\n\n
                \n
              • \u039f\u03b9 \u03ba\u03bb\u03b9\u03bd\u03b9\u03ba\u03bf\u03af \u03b5\u03bc\u03c0\u03b5\u03b9\u03c1\u03bf\u03b3\u03bd\u03ce\u03bc\u03bf\u03bd\u03b5\u03c2 \u03bc\u03b9\u03bb\u03bf\u03cd\u03bd \u03b5\u03c0\u03af\u03c3\u03b7\u03c2 \u03b3\u03b9\u03b1 \u03c3\u03c5\u03c7\u03bd\u03ad\u03c2 \u03b4\u03c5\u03c3\u03ba\u03bf\u03bb\u03af\u03b5\u03c2 (\u03c0.\u03c7. \u03b3\u03b1\u03c3\u03c4\u03c1\u03b5\u03bd\u03c4\u03b5\u03c1\u03b9\u03ba\u03ac \u03c0\u03c1\u03bf\u03b2\u03bb\u03ae\u03bc\u03b1\u03c4\u03b1, \u03b5\u03c0\u03b9\u03bb\u03b7\u03c8\u03af\u03b1, \u03c3\u03c5\u03c7\u03bd\u03ad\u03c2 \u03bb\u03bf\u03b9\u03bc\u03ce\u03be\u03b5\u03b9\u03c2) \u03c3\u03c4\u03bf \u039c\u0394\u03a3. Angesichts der Tatsache, dass Epilepsie das Hauptproblem ist, das zu R\u00fcckf\u00e4llen bei MDS und es keine klaren Leitlinien f\u00fcr die medikament\u00f6se Behandlung von Krampfanf\u00e4llen gibt, planen wir eine gro\u00df angelegte Studie zu start, um den g\u00fcnstigsten Ansatz f\u00fcr die Behandlung von Krampfanf\u00e4llen bei MDS zu ermitteln.<\/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\/el\/zusammenfassung-der-us-familienkonferenz-2022\/?lang=de\" \/>\n<meta property=\"og:locale\" content=\"el_GR\" \/>\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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