{"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\/fr\/about-us\/expert-centers\/ern-ithaca-genoa-center\/","title":{"rendered":"ERN-ITHACA \u2013 Centre de G\u00eanes"},"content":{"rendered":"

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

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Site web<\/a><\/div>\n<\/div>\n\n\n\n
<\/div>\n\n\n\n

Plomb<\/h2>\n\n\n\n
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Dr Valeria Capra<\/strong><\/p>\n\n\n\n

T\u00e9l\u00e9phone<\/strong>: \u00a0+39 010 56361<\/a><\/p>\n\n\n\n

E-mail :<\/strong> lorem.ipsum@aphp.fr<\/p>\n<\/div>\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

    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

    Service aux patients<\/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\/fr\/about-us\/expert-centers\/ern-ithaca-genoa-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 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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