{"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\/es\/about-us\/expert-centers\/ern-ithaca-naples-center\/","title":{"rendered":"ERN-ITHACA \u2013 Centro de N\u00e1poles"},"content":{"rendered":"
\"\"<\/figure>\n\n\n\n

Gen\u00e9tica M\u00e9dica<\/strong>
DAI Materno-Infantil
Centro Hospitalario Universitario \u201cFederico II\u201d
Via Sergio Pansini, 5
80131 N\u00c1POLES
ITALIA<\/p>\n\n\n\n

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

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

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

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

Tel\u00e9fono<\/strong>: +39 081 746 3288<\/p>\n\n\n\n

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

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

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

\u00c1mbito de aplicaci\u00f3n<\/h2>\n\n\n\n

El \u00e1mbito de especializaci\u00f3n de nuestro centro, como miembro de la Red Europea de Referencia (ERN) ITHACA, abarca todos los s\u00edndromes que presentan anomal\u00edas del desarrollo y\/o discapacidad intelectual (DI). Aproximadamente 1 de cada 40 reci\u00e9n nacidos presenta una malformaci\u00f3n cong\u00e9nita (261 de cada 10 000 fetos y reci\u00e9n nacidos, seg\u00fan los informes de EuroCAt), y 1 de cada 40 presenta DI. Por lo tanto, entre 3 y 5 % de todos los nacimientos humanos presentan o desarrollar\u00e1n una anomal\u00eda del desarrollo, de las cuales al menos entre 25 y 50 % son de origen gen\u00e9tico o gen\u00f3mico. Esta enorme poblaci\u00f3n representa, en realidad, la yuxtaposici\u00f3n de un n\u00famero muy elevado de trastornos raros a nivel individual que presentan una diversidad extrema de causas y fenotipos. La competencia y el \u00e1mbito de especializaci\u00f3n de este centro ITHACA incluyen:<\/p>\n\n\n\n

  • m\u00e1s de 5.500 s\u00edndromes dism\u00f3rficos y de anomal\u00edas cong\u00e9nitas m\u00faltiples (MCA) (recogidos en la Base de Datos de Dismorfolog\u00eda de Londres), entre los que se incluyen m\u00e1s de 3.000 enfermedades monog\u00e9nicas, todas las anomal\u00edas cromos\u00f3micas (la mayor\u00eda de ellas solo detectables mediante tecnolog\u00edas de microarrays), anomal\u00edas dism\u00f3rficas multifactoriales y espor\u00e1dicas, y embriopat\u00edas de origen ambiental<\/li>
  • >1.500 formas monog\u00e9nicas y cientos de formas cromos\u00f3micas de discapacidad intelectual, con o sin trastorno del espectro autista (TEA) asociado<\/li><\/ul>\n\n\n\n
    <\/div>\n\n\n\n

    Organizaci\u00f3n del centro<\/h2>\n\n\n\n

    El HCP forma parte del Departamento de Salud Pedi\u00e1trica y Materna del Hospital Universitario Federico II de N\u00e1poles, uno de los hospitales universitarios m\u00e1s grandes del sur de Italia. Los ni\u00f1os son derivados a nuestra unidad por diversos motivos, entre los que se incluyen el retraso en el desarrollo, las anomal\u00edas cong\u00e9nitas m\u00faltiples y las malformaciones. El equipo del HCP se dedica al diagn\u00f3stico, el seguimiento y el tratamiento de enfermedades gen\u00e9ticas. El equipo tambi\u00e9n participa en actividades docentes. Contamos con experiencia tanto en afecciones comunes como en s\u00edndromes gen\u00e9ticos muy raros que, en ocasiones, solo afectan a un peque\u00f1o n\u00famero de ni\u00f1os en todo el mundo. Cuando las pruebas gen\u00e9ticas disponibles dan negativo o no son concluyentes, nos especializamos en encontrar respuestas para afecciones gen\u00e9ticas complejas y dif\u00edciles de diagnosticar, aplicando nuevas tecnolog\u00edas. A menudo invitamos a nuestros pacientes a participar en estudios de investigaci\u00f3n para ayudarnos a comprender la gen\u00e9tica y la biolog\u00eda b\u00e1sica de la enfermedad, como el Programa de Enfermedades Sin Diagnosticar de Telethon:<\/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

    Mantenemos una estrecha colaboraci\u00f3n con el Instituto Telethon de Gen\u00e9tica y Medicina, un centro puntero en la investigaci\u00f3n de enfermedades gen\u00e9ticas:<\/p>\n\n\n\n

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

    Nuestro equipo tambi\u00e9n participa en el desarrollo de nuevos tratamientos, entre los que se incluyen las terapias g\u00e9nicas para enfermedades gen\u00e9ticas raras.<\/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\/es\/about-us\/expert-centers\/ern-ithaca-naples-center\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\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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