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

Departement Menselijke Erfelijkheid
University Hospitals Leuven \u2013 Gasthuisberg<\/strong>
Herestraat 49
3000\u00a0LEUVEN
B\u00e9lgica<\/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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Pr Hilde Van Esch<\/strong><\/p>\n\n\n\n

Tel\u00e9fono<\/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

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

    \n
  • m\u00e1s de 5.500 s\u00edndromes dism\u00f3rficos y de anomal\u00edas cong\u00e9nitas m\u00faltiples (MCA), entre los que se incluyen m\u00e1s de 3.000 enfermedades monog\u00e9nicas, todas las anomal\u00edas cromos\u00f3micas (la mayor\u00eda de ellas detectables \u00fanicamente mediante tecnolog\u00edas de microarrays), anomal\u00edas dism\u00f3rficas multifactoriales y espor\u00e1dicas, y embriopat\u00edas de origen ambiental<\/li>\n\n\n\n
  • >3.000 formas monog\u00e9nicas y cientos de formas cromos\u00f3micas de discapacidad intelectual, con o sin trastorno del espectro autista (TEA) asociado<\/li>\n<\/ul>\n\n\n\n
    <\/div>\n\n\n\n

    Atenci\u00f3n a los pacientes<\/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

    Organizaci\u00f3n del Centro<\/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\/es\/about-us\/expert-centers\/ern-ithaca-university-hospital-leuven\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\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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