{"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\/fr\/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
ITALIE<\/p>\n\n\n\n

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

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

Plomb<\/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

T\u00e9l\u00e9phone<\/strong>: +39 081 746 3288<\/p>\n\n\n\n

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

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

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

Champ d'application<\/h2>\n\n\n\n

En tant que membre du R\u00e9seau europ\u00e9en de r\u00e9f\u00e9rence (ERN) ITHACA, notre centre est sp\u00e9cialis\u00e9 dans tous les syndromes se caract\u00e9risant par des anomalies du d\u00e9veloppement et\/ou une d\u00e9ficience intellectuelle (DI). Environ 1 nouveau-n\u00e9 sur 40 pr\u00e9sente une malformation cong\u00e9nitale (261 pour 10 000 f\u0153tus et nouveau-n\u00e9s selon les rapports EuroCAt), et 1 sur 40 est atteint de d\u00e9ficience intellectuelle. Par cons\u00e9quent, 3 \u00e0 5 % de toutes les naissances humaines pr\u00e9sentent ou d\u00e9velopperont une anomalie du d\u00e9veloppement, parmi lesquelles au moins 25 \u00e0 50 % sont d\u2019origine g\u00e9n\u00e9tique ou g\u00e9nomique. Cette population consid\u00e9rable repr\u00e9sente en r\u00e9alit\u00e9 la juxtaposition d\u2019un tr\u00e8s grand nombre de troubles individuellement rares pr\u00e9sentant une extr\u00eame diversit\u00e9 de causes et de ph\u00e9notypes. Le champ d\u2019action et le p\u00e9rim\u00e8tre d\u2019expertise de ce centre ITHACA comprennent :<\/p>\n\n\n\n

  • plus de 5 500 syndromes dysmorphiques et anomalies cong\u00e9nitales multiples (MCA) (r\u00e9pertori\u00e9s dans la base de donn\u00e9es de dysmorphologie de Londres), parmi lesquels plus de 3 000 maladies monog\u00e9niques, toutes les anomalies chromosomiques (dont la plupart ne sont d\u00e9tectables que gr\u00e2ce aux technologies de puces \u00e0 ADN), des anomalies dysmorphologiques multifactorielles et sporadiques, ainsi que des embryof\u00e9topathies d\u2019origine environnementale<\/li>
  • >1 500 formes monog\u00e9niques et plusieurs centaines de formes chromosomiques de d\u00e9ficience intellectuelle, associ\u00e9es ou non \u00e0 un trouble du spectre autistique (TSA)<\/li><\/ul>\n\n\n\n
    <\/div>\n\n\n\n

    Organisation du Centre<\/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\/fr\/about-us\/expert-centers\/ern-ithaca-naples-center\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\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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