{"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\/de\/about-us\/expert-centers\/ern-ithaca-university-hospital-leuven\/","title":{"rendered":"ERN-ITHACA \u2013 Zentrum Leuven"},"content":{"rendered":"
\"\"<\/figure>\n\n\n\n

Departement Menselijke Erfelijkheid
University Hospitals Leuven \u2013 Gasthuisberg<\/strong>
Herestraat 49
3000\u00a0LEUVEN
Belgien<\/p>\n\n\n\n

\n
Website<\/a><\/div>\n<\/div>\n\n\n\n
<\/div>\n\n\n\n

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

Pr Hilde Van Esch<\/strong><\/p>\n\n\n\n

Telefon<\/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

E-Mail<\/strong>: mailto:cme@uzleuven.be<\/a><\/p>\n<\/div>\n<\/div>\n\n\n\n

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

Geltungsbereich<\/h2>\n\n\n\n

Das Fachgebiet unseres Zentrums als Mitglied des europ\u00e4ischen Referenznetzwerks (ERN) \u201eITHACA\u201c umfasst alle Syndrome, die mit Entwicklungsst\u00f6rungen und\/oder einer geistigen Behinderung (ID) einhergehen. Etwa 1 von 40 Neugeborenen weist eine angeborene Fehlbildung auf (261 von 10.000 F\u00f6ten und Neugeborenen laut EuroCAt-Berichten), und 1 von 40 leidet unter einer geistigen Behinderung. Daher weisen 3 bis 5 von % aller Geburten eine Entwicklungsanomalie auf oder werden eine solche entwickeln, von denen mindestens 25\u201350 von % genetischen oder genomischen Ursprungs sind. Diese riesige Population stellt in Wirklichkeit eine Ansammlung einer sehr gro\u00dfen Anzahl von einzeln seltenen Erkrankungen dar, die eine extreme Vielfalt an Ursachen und Ph\u00e4notypen aufweisen. Der Zust\u00e4ndigkeitsbereich und das Fachgebiet dieses ITHACA-Zentrums umfassen:<\/p>\n\n\n\n

    \n
  • \u00fcber 5.500 dysmorphe Syndrome und Syndrome mit multiplen angeborenen Anomalien (MCA), darunter \u00fcber 3.000 monogene Erkrankungen, alle Chromosomenanomalien (von denen die meisten nur mittels Array-Technologien nachweisbar sind), multifaktorielle und sporadische dysmorphe Anomalien sowie Embryo-Fetopathien umweltbedingten Ursprungs<\/li>\n\n\n\n
  • >3.000 monogene und Hunderte chromosomale Formen der geistigen Behinderung mit oder ohne begleitende Autismus-Spektrum-St\u00f6rung (ASD)<\/li>\n<\/ul>\n\n\n\n
    <\/div>\n\n\n\n

    Dienst am Patienten<\/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 des Zentrums<\/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\/de\/about-us\/expert-centers\/ern-ithaca-university-hospital-leuven\/\" \/>\n<meta property=\"og:locale\" content=\"de_DE\" \/>\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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