{"id":366,"date":"2022-02-08T11:28:47","date_gmt":"2022-02-08T10:28:47","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&p=366"},"modified":"2025-06-11T12:53:59","modified_gmt":"2025-06-11T10:53:59","slug":"ern-ithaca-university-hospital-leuven","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/fr\/about-us\/expert-centers\/ern-ithaca-university-hospital-leuven\/","title":{"rendered":"ERN-ITHACA \u2013 Centre de Louvain"},"content":{"rendered":"
\"\"<\/figure>\n\n\n\n

Departement Menselijke Erfelijkheid
University Hospitals Leuven \u2013 Gasthuisberg<\/strong>
Herestraat 49
3000\u00a0LEUVEN
Belgique<\/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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\"\"<\/figure>\n<\/div>\n\n\n\n
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Pr Hilde Van Esch<\/strong><\/p>\n\n\n\n

T\u00e9l\u00e9phone<\/strong>: +32 (0)16 33 22 11<\/p>\n\n\n\n

Fax<\/strong>: +32 (0)16 34 60 60<\/p>\n\n\n\n

Courrier<\/strong>: mailto:cme@uzleuven.be<\/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

    \n
  • plus de 5 500 syndromes dysmorphiques et anomalies cong\u00e9nitales multiples (MCA), parmi lesquels plus de 3 000 maladies monog\u00e9niques, toutes les anomalies chromosomiques (dont la plupart ne sont d\u00e9tectables qu\u2019\u00e0 l\u2019aide de technologies de puces \u00e0 ADN), les anomalies dysmorphologiques multifactorielles et sporadiques, ainsi que les embryof\u00e9topathies d\u2019origine environnementale<\/li>\n\n\n\n
  • >3 000 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>\n<\/ul>\n\n\n\n
    <\/div>\n\n\n\n

    Service aux patients<\/h2>\n\n\n\n

    The regional population covered by CME-Leuven counts more than 6 million inhabitants. We provide about 4700 consultations\/year within UZLeuven. In addition, we also provide out-patient genetic clinics in 12 peripheral hospitals in Flanders and institutions for children and adults with intellectual disability and multiple disabilities, accounting for another 5200 consultations\/year. Our diagnostics laboratories perform about 56.000 genetic tests per annum.<\/p>\n\n\n\n

    The Centre contributes to the care to patients by offering clinical diagnosis, genetic testing, familial screening, genetic counseling, neuropsychological and neuropsychiatric evaluation, prenatal diagnosis, follow up and coordination of the day care and reeducation of patients, and therapeutic assays in the field of intellectual disability (Fragile X syndrome; Neurofibromatosis).<\/p>\n\n\n\n

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

    Organisation du Centre<\/h2>\n\n\n\n

    UZLeuven is the largest hospital in Belgium, counting over 128 pediatric beds, over 1764beds for adults, and with over 2220 births\/year.<\/p>\n\n\n\n

    The general expertise of CME-UZLeuven in the field of rare diseases has been recognized at the national level.<\/p>\n\n\n\n

    As a center, we are involved in more than 30 \u201ccare-paths\u201d within the hospital. Full technical support, including classic medical laboratories, medical imaging, biological investigations, electrophysiology, genetic and genomic investigations including arrays and NGS, and fetal pathology, is present.<\/p>\n\n\n\n

    We are involved in and\/or organizers of the following multidisciplinary clinics:<\/p>\n\n\n\n

      \n
    • Specific syndromes (Down syndrome, Williams syndrome, Rett syndrome, Fragile X syndrome, VCFS)<\/li>\n\n\n\n
    • Autism<\/li>\n\n\n\n
    • Congenital malformations of the limbs- Skeletal dysplasia\u2019s<\/li>\n\n\n\n
    • Fetal medicine \u2013 Prenatal diagnosis \u2013 Fetal pathology<\/li>\n\n\n\n
    • Child neurology \u2013 Center for developmental disorders (COS)<\/li>\n\n\n\n
    • Congenital malformations of the heart<\/li>\n\n\n\n
    • Neuromuscular diseases (child + adults)<\/li>\n\n\n\n
    • Epilepsy (child + adults)<\/li>\n\n\n\n
    • Neurocutaneous disorders (Neurofibromatose Type 1 en 2, Cowden syndroom, Nevoid Basaal Cel Carcinoom syndroom, Tubereuze sclerosis complex)<\/li>\n\n\n\n
    • Schizis<\/li>\n\n\n\n
    • Hereditary deafness<\/li>\n<\/ul>\n\n\n\n

      We are embedded within the Department of Human Genetics, consisting on several top research teams covering all aspects of human genetics (Neurogenetics, Developmental Genetics, Behavioral Genetics, Cancer genetics, Population Genetics, Epigenetics etc..).<\/p>\n\n\n\n

      All clinical geneticists and lab supervisors have an academic position and are also involved in teaching in the Faculty of Medicine.<\/p>","protected":false},"featured_media":0,"template":"","tags":[],"country":[14],"center-status":[15],"class_list":["post-366","expert-centers","type-expert-centers","status-publish","hentry","country-belgium","center-status-full-member"],"acf":{"name-city":"University Hospital Leuven","representative":"Pr Hilde Van Esch","latitude":"50.879830 ","longitude":"4.700540","keywords-search":""},"yoast_head":"\nERN-ITHACA \u2013 Leuven 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-university-hospital-leuven\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ERN-ITHACA \u2013 Leuven Center - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Departement Menselijke ErfelijkheidUniversity Hospitals Leuven \u2013 GasthuisbergHerestraat 493000\u00a0LEUVENBelgium Lead Pr Hilde Van Esch Telephone: +32 (0)16 33 22 11 Fax: +32 (0)16 34 60 60 Mail: mailto:cme@uzleuven.be 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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