{"id":423,"date":"2022-02-08T20:26:42","date_gmt":"2022-02-08T19:26:42","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&p=423"},"modified":"2022-02-23T14:25:16","modified_gmt":"2022-02-23T13:25:16","slug":"ern-ithaca-genoa-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/es\/about-us\/expert-centers\/ern-ithaca-genoa-center\/","title":{"rendered":"ERN-ITHACA \u2013 Genoa Center"},"content":{"rendered":"

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

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IRCCS Istituto Giannina Gaslini
Via Gerolamo Gaslini, 5
16147 Genova
ITALIA<\/p>\n\n\n\n

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P\u00e1gina web<\/a><\/div>\n<\/div>\n\n\n\n
<\/div>\n\n\n\n

Plomo<\/h2>\n\n\n\n
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\"\"<\/figure>\n<\/div>\n\n\n\n
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Dr Valeria Capra<\/strong><\/p>\n\n\n\n

Tel\u00e9fono<\/strong>: \u00a0+39 010 56361<\/a><\/p>\n\n\n\n

Correo electr\u00f3nico:<\/strong> lorem.ipsum@aphp.fr<\/p>\n<\/div>\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

    National Pubblic Children\u2019s Hospital and Reseach Institute Giannina Gaslini Children\u2019s Hospital (IGG) meets the international excellence standards for safe health care deliver. The Institute has 20 interconnected buildings distributed over a 73,000 square meter area. The hospital staff members are over 1,800, including 270 physicians and 850 nurses. Beds available for ward hospitalization, for day hospital admissions and for day surgery are over 300. On average, hospitalizations are over 30,000\/year and outpatient admissions over 540,000\/year. Emergency Dept. admissions are over 33,000\/year. More than 42% of patients come from all regions of Italy and 4,4% of patients come from abroad. Through more than 250 collaboration agreements with institutions and health care facilities all over the world, the Institute promotes continuing education and training of staff of local children\u2019s hospitals and is actively involved in many humanitarian projects. IGG is an academic medical Institute specialized in paediatrics, that develops biomedical Research and is recognized by the Italian Ministry of Health as Scientific Institute of excellence. Since its foundation in 1938, the hospital has been dedicated to children\u2019s healthcare and to finding new and better ways to treat childhood illnesses.<\/p>\n\n\n\n

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

    Atenci\u00f3n a los pacientes<\/h2>\n\n\n\n

    IGG, at the Medical Genetics Department in Genoa Italy have a group of specialists that collaborate within the different clinical Departments of the Institute and collaborate with different international groups.<\/p>\n\n\n\n

    The Department of Medical Genetics offers consultations for children and adults including diagnostic consultations, carrier screening, genetic counselling and prenatal testing.  Currently, there are three clinical geneticists and three residents in genetics working at the department.<\/p>\n\n\n\n

    Multidisciplinary medical needs of patients are addressed to all the other specialists like neurologist, endocrinologist, neurosurgeon etc. If needed the patients are also referred to physiotherapists, social workers, nutritionists, and rehabilitation counsellors. Follow-up of the patients with congenital malformations and ID is performed in collaboration with the different specialists.<\/p>\n\n\n\n

    When needed, we refer patients to psychological or psychiatric consultations and often genetic consultation is performed together with a psychologist. Psycho\u2010social support is present in the hospital with special expertise on rare disorders with ID. To cover the social need brought on by a rare disease, patients are provided with written information and contact detail of available patient organizations. Certification for Rare Diseases are offered for Public Health Care.<\/p>","protected":false},"featured_media":0,"template":"","tags":[],"country":[59],"center-status":[15],"class_list":["post-423","expert-centers","type-expert-centers","status-publish","hentry","country-italy","center-status-full-member"],"acf":{"name-city":"Genoa Center","representative":"Dr Valeria Capra","latitude":"44.405650","longitude":"8.946256","keywords-search":""},"yoast_head":"\nERN-ITHACA \u2013 Genoa 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-genoa-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 Genoa Center - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"IRCCS Istituto Giannina GasliniVia Gerolamo Gaslini, 516147 GenovaITALIA Lead Dr Valeria Capra Telephone: \u00a0+39 010 56361 Mail: lorem.ipsum@aphp.fr 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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