{"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\/pl\/zusammenfassung-der-us-familienkonferenz-2022\/","title":{"rendered":"Zusammenfassung der US-Familienkonferenz 2022"},"content":{"rendered":"

Die zweij\u00e4hrliche Familienkonferenz fand vom 23. bis 24. September 2022 in Houston, Texas, USA statt. wrze\u015bnia 2022 r. w Houston (Teksas, USA). Jej organizatorem by\u0142 prof. Huda Zoghbi z Neurologischen Forschungsinstitut (NRI, Houston, Teksas). Das Programm war dicht gef\u00fcllt und umfasste Pr\u00e4sentationen \u00fcber die wissenschaftlichen Fortschritte des Syndroms. <\/p>\n\n

\"\"
David i 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\" and Teil unseres wissenschaftlichen Ausschusses, besuchte die Veranstaltung vor Ort. Er podr\u00f3\u017cowa\u0142 wraz z rodzinami, sponsorami i aktywnymi cz\u0142onkami ameryka\u0144sko-ameryka\u0144skiego zwi\u0105zku oraz sponsorami.<\/p>\n\n

Anschlie\u00dfend wurde David von Prof. Huda Zoghbi und ihrem Team empfangen. Podczas tej ko\u0144cowej fazy zdefiniowano wymagania projektu i zidentyfikowano \u015brodki, kt\u00f3re umo\u017cliwi\u0142yby nam pomoc i wk\u0142ad.<\/p>\n\n

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

<\/p>\n\n

Prof. Huda Zoghbi, dr Davut Pehlivan i dr Bernhard Suter skupi\u0105 si\u0119 p\u00f3\u017aniej na kluczowych dla nas punktach konferencji:<\/p>\n\n

    \n
  • Firma Ionis Pharmaceuticals jest przekonana, \u017ce w 2023 r. zostanie przeprowadzone badanie dotycz\u0105ce naturalnego przebiegu choroby zwi\u0105zanej z zespo\u0142em enduplikacji MECP2 (MDS). Die Studie zum nat\u00fcrlichen Krankheitsverlauf wird voraussichtlich in den Vereinigten Staaten durchgef\u00fchrt 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 b\u0119dzie w 2023 r. w kontakcie z FDA. Wa\u017cne jest jednak, aby pami\u0119ta\u0107, \u017ce nie chodzi tu o opracowanie lub wygenerowanie wniosku IND (Investitional new drug application).<\/li>\n<\/ul>\n\n
      \n
    • Dr Davut Pehlivan i Sameer Bajikar wypowiadaj\u0105 si\u0119 na temat bada\u0144 genomicznych. 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. Trwaj\u0105 poszukiwania bada\u0144 genetycznych, w kt\u00f3rych mo\u017cna wzi\u0105\u0107 udzia\u0142 z dowolnego miejsca na \u015bwiecie.<\/li>\n<\/ul>\n\n
        \n
      • Dr Mirjana Maletic-Savatic m\u00f3wi o badaniach nad biomarkerami. Obecnie trwaj\u0105 badania nad rozwojem biomarker\u00f3w. Zosta\u0142a opracowana lista biomarker\u00f3w, kt\u00f3re s\u0105 zwi\u0105zane z MDS, Rett i zdrowymi lud\u017ami. Naszym celem jest rozszerzenie listy kandydat\u00f3w na biomarkery w ramach badania NHS i zidentyfikowanie jednego lub dw\u00f3ch znacz\u0105cych biomarker\u00f3w, kt\u00f3re przyczyni\u0105 si\u0119 do pogorszenia przebiegu choroby i zwi\u0119kszenia ryzyka ASO.<\/li>\n<\/ul>\n\n
          \n
        • Dr Sarika Peters i Jeff Neul wypowiadaj\u0105 si\u0119 na temat opracowywania wynik\u00f3w. Jest to opracowanie wieloo\u015brodkowej skali dla bada\u0144 klinicznych, kt\u00f3rej celem jest wykorzystanie tej skali w bie\u017c\u0105cych badaniach klinicznych.<\/li>\n<\/ul>\n\n
            \n
          • Dr Zhenya Ivakine opowiedzia\u0142 o nowo opracowanym modelu, w kt\u00f3rym zar\u00f3wno MECP2, jak i IRAK1 maj\u0105 na celu stworzenie lepszego modelu dla bada\u0144 nad MDS. Przedstawi\u0142 r\u00f3wnie\u017c aktualne informacje na temat edycji genomu opartej na CRISPR\/Cas9 dla MDS. Mimo \u017ce wyniki s\u0105 niezmienne, konieczne s\u0105 dalsze badania laboratoryjne, aby mo\u017cna by\u0142o rozpocz\u0105\u0107 badania na ludziach.<\/li>\n<\/ul>\n\n
              \n
            • Dr Ashley Anderson przedstawi\u0142a wcze\u015bniejsze wyniki bada\u0144 przesiewowych w celu znalezienia nowych regulator\u00f3w MeCP2. Hemmung solcher Regulatoren k\u00f6nnte zu neuen Behandlungsm\u00f6glichkeiten f\u00fchren, aber diese Studien befinden sich jedoch noch in der Anfangsphase und bed\u00fcrfen weiterer Untersuchungen.<\/li>\n<\/ul>\n\n
                \n
              • Eksperci kliniczni wypowiadaj\u0105 si\u0119 r\u00f3wnie\u017c na temat r\u00f3\u017cnych problem\u00f3w (m.in. problem\u00f3w \u017co\u0142\u0105dkowo-jelitowych, padaczki, ci\u0119\u017ckich zaburze\u0144 czynno\u015bciowych) w MDS. Bior\u0105c pod uwag\u0119 fakt, \u017ce padaczka jest g\u0142\u00f3wnym problemem, kt\u00f3ry prowadzi do nawrot\u00f3w w MDS i \u017ce nie istniej\u0105 \u017cadne jasne wytyczne dotycz\u0105ce medycznego leczenia raka szyjki macicy, planujemy rozpocz\u0119cie szeroko zakrojonego badania, aby opracowa\u0107 najlepsz\u0105 metod\u0119 leczenia raka szyjki macicy w MDS.<\/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\/pl\/zusammenfassung-der-us-familienkonferenz-2022\/?lang=de\" \/>\n<meta property=\"og:locale\" content=\"pl_PL\" \/>\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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