{"id":400,"date":"2022-02-08T13:34:13","date_gmt":"2022-02-08T12:34:13","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&#038;p=400"},"modified":"2022-02-13T15:15:55","modified_gmt":"2022-02-13T14:15:55","slug":"ern-ithaca-montpellier-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/es\/about-us\/expert-centers\/ern-ithaca-montpellier-center\/","title":{"rendered":"ERN-ITHACA \u2013 Centro de Montpellier"},"content":{"rendered":"<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"500\" height=\"318\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/HCP-Montpellier-Center-Hospital.jpeg\" alt=\"\" class=\"wp-image-402\"\/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">CENTRO HOSPITALARIO UNIVERSITARIO DE MONTPELLIER<br>191, avenida del Doyen Giraud<br>34295 Montpellier Cedex 5<\/p>\n\n\n\n<div class=\"wp-block-buttons is-layout-flex wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link\" href=\"https:\/\/www.chu-montpellier.fr\/fr\/offre-de-soins\/medecins\/david-genevieve-46868\">P\u00e1gina web<\/a><\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"lead\">Plomo<\/h2>\n\n\n\n<div class=\"wp-block-columns is-layout-flex wp-container-core-columns-is-layout-8f761849 wp-block-columns-is-layout-flex\">\n<div class=\"wp-block-column is-vertically-aligned-center is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:15%\">\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"548\" height=\"768\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Pr-David-Genevieve.jpeg\" alt=\"\" class=\"wp-image-401\" srcset=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Pr-David-Genevieve.jpeg 548w, https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Pr-David-Genevieve-428x600.jpeg 428w\" sizes=\"auto, (max-width: 548px) 100vw, 548px\" \/><\/figure>\n<\/div>\n\n\n\n<div class=\"wp-block-column is-vertically-aligned-center is-layout-flow wp-block-column-is-layout-flow\" style=\"flex-basis:85%\">\n<p class=\"wp-block-paragraph\"><strong>Prof. David GENEVIEVE<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Tel\u00e9fono<\/strong>: 0033 4 67 33 67 33<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Correo<\/strong>: <a href=\"mailto:d-genevieve@chu-montpellier.fr\">d-genevieve@chu-montpellier.fr<\/a><\/p>\n<\/div>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"scope\">\u00c1mbito de aplicaci\u00f3n<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">El \u00e1mbito de especializaci\u00f3n del Centro de Montpellier de la Red Europea de Referencia (ERN) ITHACA abarca todos los s\u00edndromes que presentan anomal\u00edas del desarrollo y\/o discapacidad intelectual (DI). \u00a0Aproximadamente 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. La competencia y el \u00e1mbito de especializaci\u00f3n del Centro de Burdeos ITHACA incluyen:<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>m\u00e1s de 5.500 s\u00edndromes dism\u00f3rficos y de anomal\u00edas cong\u00e9nitas m\u00faltiples (MCA) (recogidos en la Base de Datos de Dismorfolog\u00eda de Londres), entre los que se incluyen m\u00e1s de 3.000 enfermedades monog\u00e9nicas, todas las anomal\u00edas cromos\u00f3micas (la mayor\u00eda de ellas solo detectables mediante tecnolog\u00edas de microarrays), anomal\u00edas dism\u00f3rficas multifactoriales y espor\u00e1dicas, y embriopat\u00edas y fetopat\u00edas de origen ambiental<\/li><li>&gt;1.500 formas monog\u00e9nicas y cientos de formas cromos\u00f3micas de discapacidad intelectual, con o sin trastorno del espectro autista (TEA) asociado.<\/li><\/ul>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"service-to-patients\">Atenci\u00f3n a los pacientes<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">La poblaci\u00f3n regional atendida por el Centro de Montpellier asciende a m\u00e1s de 5,893 millones de habitantes (Occitania). El HCP es uno de los dos hospitales de la regi\u00f3n de Occitania que cuenta con un departamento de gen\u00e9tica y es el \u00fanico HCP de la red ERN ITHACA de esta regi\u00f3n.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">El Centro de Referencia de Montpellier (CLAD-SOOR) est\u00e1 ubicado en el Hospital Universitario de Montpellier y obtuvo la certificaci\u00f3n en Francia en 2004. El CLAD-SOOR atiende a pacientes de cualquier edad, desde la etapa fetal hasta la edad adulta, as\u00ed como a mujeres embarazadas. El CLAD-SOOR agrupa todas las consultas de gen\u00e9tica, incluido el diagn\u00f3stico preimplantacional, del sur de Francia, y su actividad se centra en gran medida en las anomal\u00edas del desarrollo y en los s\u00edndromes de malformaci\u00f3n. El CLAD-SOOR asume las funciones de asesoramiento especializado y coordinaci\u00f3n de la atenci\u00f3n m\u00e9dica, param\u00e9dica, psicol\u00f3gica y social. El departamento de Gen\u00e9tica contribuye a la atenci\u00f3n ofreciendo diagn\u00f3stico gen\u00e9tico, pruebas gen\u00e9ticas, cribado familiar, asesoramiento gen\u00e9tico, evaluaci\u00f3n neuropsicol\u00f3gica, diagn\u00f3stico prenatal, seguimiento del diagn\u00f3stico preimplantacional y atenci\u00f3n a pacientes con MCA y DI, as\u00ed como ensayos terap\u00e9uticos en el \u00e1mbito de las anomal\u00edas del desarrollo. El departamento cl\u00ednico cuenta con 7 m\u00e9dicos genetistas, 1 asesor gen\u00e9tico, 2 enfermeros y 2 psic\u00f3logos. El centro de atenci\u00f3n sanitaria mantiene un estrecho contacto con una red dedicada a las enfermedades raras de la regi\u00f3n de Occitania.&nbsp;<a href=\"https:\/\/www.reseau-maladies-rares.fr\/\">https:\/\/www.reseau-maladies-rares.fr\/<\/a>. Esta red permite a los pacientes acceder f\u00e1cilmente a una atenci\u00f3n espec\u00edfica y a profesionales especializados en enfermedades raras fuera del HCP, es decir, en toda la regi\u00f3n de Occitania. Los pacientes son atendidos en consultas externas o en la unidad de hospitalizaci\u00f3n de d\u00eda. El departamento cuenta con tres laboratorios: de biolog\u00eda molecular (que incluye instalaciones de NGS), de citogen\u00e9tica (que incluye tecnolog\u00eda de microarrays) y de patolog\u00eda fetal. El departamento colabora con el departamento de neurolog\u00eda infantil, que contribuye a la atenci\u00f3n de los trastornos metab\u00f3licos y la epilepsia infantil. Dada la amplia zona geogr\u00e1fica que debe cubrir el CLAD-SOOR, tenemos previsto ofrecer teleconsultas.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"organization-of-the-center\">Organizaci\u00f3n del Centro<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">El CHU de Montpellier es uno de los hospitales m\u00e1s grandes de Francia (con m\u00e1s de 309 camas pedi\u00e1tricas y una maternidad con 3.900 partos). Ofrece una cobertura completa de atenci\u00f3n general y especializada para ni\u00f1os y mujeres embarazadas, en particular: un servicio de gen\u00e9tica m\u00e9dica que ofrece consultas gen\u00e9ticas para ni\u00f1os, adultos y mujeres embarazadas; un servicio de neurolog\u00eda infantil y trastornos metab\u00f3licos; un servicio de psiquiatr\u00eda infantil que ofrece diagn\u00f3stico y atenci\u00f3n multidisciplinares para ni\u00f1os con discapacidad intelectual; departamentos de pediatr\u00eda general, cardiolog\u00eda pedi\u00e1trica, nefrolog\u00eda, cirug\u00eda, ortopedia, otorrinolaringolog\u00eda, oftalmolog\u00eda\u2026; servicios de diagn\u00f3stico prenatal; apoyo t\u00e9cnico completo, que incluye laboratorios m\u00e9dicos cl\u00e1sicos, diagn\u00f3stico por imagen, an\u00e1lisis biol\u00f3gicos, electrofisiolog\u00eda, an\u00e1lisis gen\u00e9ticos (matrices, NGS) y patolog\u00eda fetal. La Unidad de Gen\u00e9tica, n\u00facleo de esta solicitud, se encarga del diagn\u00f3stico gen\u00e9tico, las pruebas gen\u00e9ticas, el cribado familiar, el asesoramiento gen\u00e9tico, el diagn\u00f3stico prenatal, el diagn\u00f3stico preimplantacional, el seguimiento y la atenci\u00f3n de pacientes con MCA y discapacidad intelectual, as\u00ed como de ensayos terap\u00e9uticos en el \u00e1mbito de las anomal\u00edas del desarrollo (s\u00edndrome del X fr\u00e1gil, trisom\u00eda 21, contacto con la empresa Takeda en relaci\u00f3n con el s\u00edndrome de Kabuki...).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">El coordinador del centro de referencia es el director de la red de enfermedades raras de la regi\u00f3n de Occitania.&nbsp;<a href=\"https:\/\/www.reseau-maladies-rares.fr\/\">https:\/\/www.reseau-maladies-rares.fr\/<\/a><\/p>\n\n\n\n<p class=\"wp-block-paragraph\">El HCP se dedica a las enfermedades raras, especialmente a los defectos cong\u00e9nitos con afectaci\u00f3n craneofacial, como el s\u00edndrome de Treacher-Coillins, as\u00ed como a las enfermedades debidas a variantes pat\u00f3genas en genes implicados en la regulaci\u00f3n de la cromatina (s\u00edndrome de Kabuki, CDK13, YY1, etc.).<\/p>","protected":false},"featured_media":0,"template":"","tags":[],"country":[6],"center-status":[15],"class_list":["post-400","expert-centers","type-expert-centers","status-publish","hentry","country-france","center-status-full-member"],"acf":{"name-city":"Montpellier Center","representative":"Pr David Genevieve","latitude":"43.610767 ","longitude":"3.876716","keywords-search":""},"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - 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