{"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\/it\/about-us\/expert-centers\/ern-ithaca-naples-center\/","title":{"rendered":"ERN-ITHACA \u2013 Naples Center"},"content":{"rendered":"
\"\"<\/figure>\n\n\n\n

Genetica Medica<\/strong>
DAI Materno-Infantile
Azienda Ospedaliera Universitaria \u201cFederico II\u201d
Via Sergio Pansini 5
80131\u00a0NAPOLI
ITALIA<\/p>\n\n\n\n

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

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

Piombo<\/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

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

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

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

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

Ambito di applicazione<\/h2>\n\n\n\n

L\u2019area di competenza del nostro Centro, in qualit\u00e0 di membro della Rete di Riferimento Europea (ERN) ITHACA, copre tutte le sindromi caratterizzate da anomalie dello sviluppo e\/o disabilit\u00e0 intellettiva (DI). Circa 1 neonato su 40 presenta una malformazione congenita (261 su 10.000 feti e neonati secondo i dati EuroCAt) e 1 su 40 presenta una disabilit\u00e0 intellettiva. Pertanto, da 3 a 5 % di tutte le nascite umane presentano o svilupperanno un\u2019anomalia dello sviluppo, tra cui almeno 25-50% sono di origine genetica o genomica. Questa vasta popolazione rappresenta in realt\u00e0 la giustapposizione di un numero molto elevato di disturbi, singolarmente rari, che presentano un\u2019estrema diversit\u00e0 di cause e fenotipi. La competenza e l\u2019ambito di specializzazione di questo Centro ITHACA comprendono:<\/p>\n\n\n\n

  • oltre 5.500 sindromi dismorfiche e di anomalie congenite multiple (MCA) (elencate nel London Dysmorphology Database), tra cui oltre 3.000 malattie monogeniche, tutte le anomalie cromosomiche (la maggior parte delle quali rilevabili solo tramite tecnologie di array), anomalie dismorfologiche multifattoriali e sporadiche ed embriopatie di origine ambientale<\/li>
  • >1.500 forme monogeniche e centinaia di forme cromosomiche di ritardo mentale, con o senza disturbo dello spettro autistico (ASD) associato<\/li><\/ul>\n\n\n\n
    <\/div>\n\n\n\n

    Organizzazione del Centro<\/h2>\n\n\n\n

    The HCP is within the Department of Pediatric and Maternal Health of Federico II University Hospital in Naples, one of largest University Hospital in Southern Italy. Children are referred to our unit for several reasons, including developmental delay, multiple congenital anomalies, and malformations. The HCP team is involved in diagnosis, management, and therapies of genetic diseases. The team is also involved in teaching activities. We have experience with both common conditions and very rare genetic syndromes affecting sometimes just a small number of children worldwide. When available genetic tests are negative or inconclusive, we specialize in finding answers for complex and hard-to-diagnose genetic conditions, applying new technologies. We often invite our patients to participate in research studies to help us understand the genetics and basic biology of disease, such as the Telethon Undiagnosed Disease Program:<\/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

    We have strong collaborations with the Telethon Institute of Genetics and Medicine, a leading institute for research in genetic diseases:<\/p>\n\n\n\n

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

    Our team is also involved in the development of new treatments, including gene therapies for rare genetic diseases.<\/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\/it\/about-us\/expert-centers\/ern-ithaca-naples-center\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\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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