{"id":407,"date":"2022-02-08T13:43:37","date_gmt":"2022-02-08T12:43:37","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&p=407"},"modified":"2026-04-24T14:56:40","modified_gmt":"2026-04-24T12:56:40","slug":"ern-ithaca-hamburg-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/de\/about-us\/expert-centers\/ern-ithaca-hamburg-center\/","title":{"rendered":"ERN-ITHACA \u2013 Hamburg Center"},"content":{"rendered":"

Institute of Human Genetics
<\/strong>UKE Hamburg-Eppendorf
Martinistr. 52
D-20246 Hamburg\u00a0Germany<\/p>\n\n\n\n

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

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

Dr Amelie van der Ven<\/strong><\/p>\n\n\n\n

Tel.<\/strong>: +49 (0)40\/7410-53125<\/p>\n\n\n\n

E-Mail<\/strong>:<\/p>\n\n\n\n


<\/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 und multiple angeborene Anomalien (MCA) (aufgef\u00fchrt in der London Dysmorphology Database), darunter \u00fcber 3.000 monogene Erkrankungen, alle Chromosomenanomalien (von denen die meisten nur mittels Array-Technologien nachweisbar sind), multifaktorielle, sporadische dysmorphologische Anomalien sowie Embryo-Fetopathien umweltbedingten Ursprungs<\/li>\n\n\n\n
  • >1500 monogenic and hundreds chromosomal forms of ID with or without associated autism spectrum disorder (ASD)<\/li>\n<\/ul>\n\n\n\n
    <\/div>\n\n\n\n

    Dienst am Patienten<\/h2>\n\n\n\n

    Die Bev\u00f6lkerung der Region<\/p>","protected":false},"featured_media":0,"template":"","tags":[],"country":[56],"center-status":[15],"class_list":["post-407","expert-centers","type-expert-centers","status-publish","hentry","country-germany","center-status-full-member"],"acf":{"name-city":"Institute of Human Genetics (Hamburg)","representative":"Dr Amelie van der Ven","latitude":"53.551085 ","longitude":"9.993682","keywords-search":""},"yoast_head":"\nERN-ITHACA \u2013 Hamburg 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-hamburg-center\/\" \/>\n<meta property=\"og:locale\" content=\"de_DE\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ERN-ITHACA \u2013 Hamburg Center - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Institute of Human GeneticsUKE Hamburg-EppendorfMartinistr. 52D-20246 Hamburg\u00a0Germany Lead Dr Amelie van der Ven Tel: +49 (0)40\/7410-53125 Mail: 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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