{"id":405,"date":"2022-02-08T13:40:20","date_gmt":"2022-02-08T12:40:20","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&p=405"},"modified":"2022-03-04T12:06:23","modified_gmt":"2022-03-04T11:06:23","slug":"ern-ithaca-essen-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/de\/about-us\/expert-centers\/ern-ithaca-essen-center\/","title":{"rendered":"ERN-ITHACA \u2013 Essen Center"},"content":{"rendered":"
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Institut f\u00fcr Humangenetik<\/strong>
Universit\u00e4tsklinikum Essen
Universit\u00e4t Duisburg-Essen
Hufelandstra\u00dfe 55
D-45122 Essen
DEUTSCHLAND<\/p>\n\n\n\n

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

Blei<\/h2>\n\n\n\n
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\"\"<\/figure>\n<\/div>\n\n\n\n
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Prof. Dr. Frank Kaiser<\/strong><\/p>\n\n\n\n

Telefon<\/strong>: +49 (201) 723 4560<\/p>\n\n\n\n

Fax:<\/strong> +49 (201) 723 5900<\/p>\n\n\n\n

E-Mail:<\/strong> frank.kaiser@uk-essen.de<\/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) ITHACA umfasst Syndrome, die mit einer geistigen Behinderung (ID) und\/oder seltenen angeborenen Fehlbildungen einhergehen, wobei ein besonderer Schwerpunkt auf verschiedenen Formen kraniofazialer Fehlbildungen liegt. Etwa 1 von 40 Neugeborenen weist eine angeborene Fehlbildung auf, und bis zu 2% weisen eine geistige Behinderung auf oder werden diese entwickeln, verursacht durch verschiedene, f\u00fcr sich genommen seltene Erkrankungen, von denen bis zu 50% genetischen oder genomischen Ursprungs sind. Der Zust\u00e4ndigkeitsbereich und das Fachgebiet des D\u00fcsseldorfer ITHACA-Zentrums umfassen:<\/p>\n\n\n\n

  • \u00fcber 5.500 Syndrome mit dysmorphologischen Merkmalen und multiplen angeborenen Anomalien (MCA) (aufgef\u00fchrt in der London Dysmorphology Database), darunter monogene Erkrankungen, Chromosomenanomalien (nachweisbar durch konventionelle Chromosomenanalyse und\/oder CGH-Array-Technologie), multifaktorielle oder sporadische Anomalien sowie umweltbedingte Embryo-Fetopathien<\/li>
  • >1.500 monogene und Hunderte chromosomale Formen der geistigen Behinderung mit oder ohne begleitende Autismus-Spektrum-St\u00f6rung (ASD).<\/li><\/ul>\n\n\n\n
    <\/div>\n\n\n\n

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

    Text folgt<\/p>\n\n\n\n

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

    Organisation des Zentrums<\/h2>\n\n\n\n

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