{"id":426,"date":"2022-02-08T20:36:23","date_gmt":"2022-02-08T19:36:23","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&p=426"},"modified":"2022-03-07T11:51:06","modified_gmt":"2022-03-07T10:51:06","slug":"ern-ithaca-naples-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/de\/about-us\/expert-centers\/ern-ithaca-naples-center\/","title":{"rendered":"ERN-ITHACA \u2013 Zentrum Neapel"},"content":{"rendered":"
\"\"<\/figure>\n\n\n\n

Genetica Medica<\/strong>
DAI f\u00fcr Mutter und Kind
Universit\u00e4tsklinikum \u201cFederico II\u201d
Via Sergio Pansini 5
80131 NEAPEL
ITALIEN<\/p>\n\n\n\n

<\/p>\n\n\n\n

<\/div>\n\n\n\n

Blei<\/h2>\n\n\n\n
\n
\n
\"\"<\/figure>\n<\/div>\n\n\n\n
\n

Dr. Prof. Nicola Brunetti-Pierri<\/strong><\/p>\n\n\n\n

Telefon<\/strong>: +39 081 746 3288<\/p>\n\n\n\n

Fax<\/strong>: +39 081 746 3116<\/p>\n\n\n\n

E-Mail<\/strong>:\u00a0nicola.brunetti@unina.it<\/a><\/p>\n<\/div>\n<\/div>\n\n\n\n

<\/div>\n\n\n\n

Geltungsbereich<\/h2>\n\n\n\n

Das Fachgebiet unseres Zentrums als Mitglied des europ\u00e4ischen Referenznetzwerks (ERN) \u201eITHACA\u201c umfasst alle Syndrome, die mit Entwicklungsst\u00f6rungen und\/oder einer geistigen Behinderung (ID) einhergehen. Etwa 1 von 40 Neugeborenen weist eine angeborene Fehlbildung auf (261 von 10.000 F\u00f6ten und Neugeborenen laut EuroCAt-Berichten), und 1 von 40 leidet unter einer geistigen Behinderung. Daher weisen 3 bis 5 von % aller Geburten eine Entwicklungsanomalie auf oder werden eine solche entwickeln, von denen mindestens 25\u201350 von % genetischen oder genomischen Ursprungs sind. Diese riesige Population stellt in Wirklichkeit eine Ansammlung einer sehr gro\u00dfen Anzahl von einzeln seltenen Erkrankungen dar, die eine extreme Vielfalt an Ursachen und Ph\u00e4notypen aufweisen. Der Zust\u00e4ndigkeitsbereich und das Fachgebiet dieses ITHACA-Zentrums umfassen:<\/p>\n\n\n\n

  • \u00fcber 5.500 dysmorphe und multiple angeborene Anomalien (MCA) (aufgef\u00fchrt in der London Dysmorphology Database), darunter \u00fcber 3.000 monogene Erkrankungen, alle Chromosomenanomalien (von denen die meisten nur mittels Array-Technologien nachweisbar sind), multifaktorielle, sporadische dysmorphologische Anomalien sowie Embryo-Fetopathien umweltbedingten Ursprungs<\/li>
  • >1.500 monogene und Hunderte chromosomale Formen der geistigen Behinderung mit oder ohne begleitende Autismus-Spektrum-St\u00f6rung (ASD)<\/li><\/ul>\n\n\n\n
    <\/div>\n\n\n\n

    Organisation des Zentrums<\/h2>\n\n\n\n

    Das HCP ist Teil der Abteilung f\u00fcr Kinder- und M\u00fcttergesundheit des Universit\u00e4tsklinikums Federico II in Neapel, eines der gr\u00f6\u00dften Universit\u00e4tskliniken S\u00fcditaliens. Kinder werden aus verschiedenen Gr\u00fcnden an unsere Abteilung \u00fcberwiesen, darunter Entwicklungsverz\u00f6gerungen, multiple angeborene Anomalien und Fehlbildungen. Das HCP-Team befasst sich mit der Diagnose, der Betreuung und der Therapie genetischer Erkrankungen. Das Team ist zudem in der Lehre t\u00e4tig. Wir verf\u00fcgen \u00fcber Erfahrung sowohl mit h\u00e4ufigen Erkrankungen als auch mit sehr seltenen genetischen Syndromen, von denen weltweit manchmal nur eine geringe Anzahl von Kindern betroffen ist. Wenn verf\u00fcgbare Gentests negativ oder nicht aussagekr\u00e4ftig sind, sind wir darauf spezialisiert, mithilfe neuer Technologien Antworten auf komplexe und schwer zu diagnostizierende genetische Erkrankungen zu finden. Wir laden unsere Patienten h\u00e4ufig ein, an Forschungsstudien teilzunehmen, um uns dabei zu helfen, die Genetik und die grundlegende Biologie von Erkrankungen besser zu verstehen, wie beispielsweise im Rahmen des \u201eTelethon Undiagnosed Disease Program\u201c:<\/p>\n\n\n\n

    \nhttps:\/\/www.telethon.it\/cosa-facciamo\/terapie-e-diagnosi\/programma-malattie-senza-diagnosi\/\n<\/div><\/figure>\n\n\n\n

    Wir pflegen eine enge Zusammenarbeit mit dem Telethon-Institut f\u00fcr Genetik und Medizin, einem f\u00fchrenden Forschungsinstitut f\u00fcr genetische Erkrankungen:<\/p>\n\n\n\n

    \nhttps:\/\/www.tigem.it\/\n<\/div><\/figure>\n\n\n\n

    Unser Team ist au\u00dferdem an der Entwicklung neuer Behandlungsmethoden beteiligt, darunter Gentherapien f\u00fcr seltene genetische Erkrankungen.<\/p>","protected":false},"featured_media":0,"template":"","tags":[],"country":[59],"center-status":[15],"class_list":["post-426","expert-centers","type-expert-centers","status-publish","hentry","country-italy","center-status-full-member"],"acf":{"name-city":"Naples Center","representative":"Dr. Prof. Nicola Brunetti-Pierri","latitude":"40.839981","longitude":"14.252540","keywords-search":""},"yoast_head":"\nERN-ITHACA \u2013 Naples Center - ERN ITHACA<\/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:\/\/ern-ithaca.eu\/de\/about-us\/expert-centers\/ern-ithaca-naples-center\/\" \/>\n<meta property=\"og:locale\" content=\"de_DE\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ERN-ITHACA \u2013 Naples Center - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Genetica MedicaDAI Materno-InfantileAzienda Ospedaliera Universitaria \u201cFederico II\u201dVia Sergio Pansini 580131\u00a0NAPOLIITALY Lead Dr. Prof. Nicola Brunetti-Pierri Telephone: +39 081 746 3288 Fax: +39 081 746 3116 Mail:\u00a0nicola.brunetti@unina.it Scope The area of expertise of our Centre, as member of the ITHACA European Reference Network (ERN), covers all syndromes exhibiting developmental anomalies and\/or intellectual disability (ID). 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