{"id":389,"date":"2022-02-08T13:10:49","date_gmt":"2022-02-08T12:10:49","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&#038;p=389"},"modified":"2022-02-13T15:15:20","modified_gmt":"2022-02-13T14:15:20","slug":"ern-ithaca-lyon-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/es\/about-us\/expert-centers\/ern-ithaca-lyon-center\/","title":{"rendered":"ERN-ITHACA \u2013 Centro de Lyon"},"content":{"rendered":"<figure class=\"wp-block-image size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Logo-HCL.jpeg\" alt=\"\" class=\"wp-image-390\" width=\"225\" height=\"225\"\/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">Servicio de Gen\u00e9tica<br>Hospital de la Mujer, la Madre y el Ni\u00f1o<br>59, bulevar Pinel<br>69677 BRON CEDEX<br>Francia<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Centro de Referencia para Anomal\u00edas del Desarrollo y Malformaciones:<\/strong><\/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-lyon.fr\/fr\/centre-de-reference-des-anomalies-du-developpement-et-syndromes-malformatifs-du-sud-est\">P\u00e1gina web<\/a><\/div>\n<\/div>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Centro de derivaci\u00f3n para personas con discapacidad intelectual:<\/strong><\/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-lyon.fr\/fr\/centre-de-reference-des-deficiences-intellectuelles-de-causes-rares\">P\u00e1gina web 2<\/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=\"184\" height=\"204\" src=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/02\/Dr-Massimiliano-Rossi.png\" alt=\"\" class=\"wp-image-391\"\/><\/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>Dr. Massimiliano ROSSI<\/strong><\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Tel\u00e9fono<\/strong>: +33 (0)4 27 85 55 73<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Fax<\/strong>: +33 (0)4 27 85 52 45<\/p>\n\n\n\n<p class=\"wp-block-paragraph\"><strong>Correo<\/strong>:&nbsp;<a href=\"mailto:ghe.genetiquehfme@chu-lyon.fr\">ghe.genetiquehfme@chu-lyon.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 Lyon de la Red de Referencia Europea (ERN) ITHACA abarca todos los s\u00edndromes que presentan anomal\u00edas del desarrollo, incluidos los s\u00edndromes de malformaci\u00f3n y\/o discapacidad intelectual (DI), desde la etapa fetal hasta la edad adulta. Esto incluye anomal\u00edas f\u00edsicas, alteraciones neurol\u00f3gicas, trastornos del comportamiento y deficiencias neurosensoriales.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">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 padece discapacidad intelectual. 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 que, considerados individualmente, son raros y que presentan una diversidad extrema de causas y fenotipos.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">El \u00e1mbito de actuaci\u00f3n del Centro Lyon ITHACA abarca:<\/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), afecciones dism\u00f3rficas multifactoriales y espor\u00e1dicas, y embriopat\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\">Este centro de atenci\u00f3n sanitaria est\u00e1 situado en Lyon, la tercera ciudad m\u00e1s grande de Francia, en el departamento del R\u00f3dano, con una poblaci\u00f3n de m\u00e1s de 1,8 millones de personas. Ofrece atenci\u00f3n multidisciplinar a los pacientes y sus familias, mediante el diagn\u00f3stico cl\u00ednico, pruebas gen\u00e9ticas prenatales y posnatales, cribado familiar, asesoramiento gen\u00e9tico, evaluaci\u00f3n neurol\u00f3gica y neuropsicol\u00f3gica, gesti\u00f3n, tratamientos y seguimiento.<\/p>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"organization-of-the-ithaca-ern-lyon-centre\">Organizaci\u00f3n de la Red Europea de Excelencia (ERN) ITHACA \u2013 Centro de Lyon<\/h2>\n\n\n\n<p class=\"wp-block-paragraph\">El HCP es un consorcio formado por el Centro de Referencia para Anomal\u00edas del Desarrollo y S\u00edndromes de Malformaci\u00f3n del Servicio de Gen\u00e9tica y el Centro de Referencia para la Discapacidad Intelectual del Servicio de Neurolog\u00eda Infantil del hospital Femme-M\u00e8re-Enfant de Lyon, que forma parte del 2.\u00ba<sup>y<\/sup>&nbsp;el hospital universitario m\u00e1s grande de Francia (Hospices Civils de Lyon).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">Los departamentos de Neurolog\u00eda Gen\u00e9tica y Neurolog\u00eda Infantil incluyen:<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>Unidades cl\u00ednicas que ofrecen una caracterizaci\u00f3n fenot\u00edpica detallada en los \u00e1mbitos de la dismorfolog\u00eda, la neurolog\u00eda, la neuropsicolog\u00eda, la neurofisiolog\u00eda, la psiquiatr\u00eda y la pediatr\u00eda<\/li><li>Unidades de laboratorio, entre las que se incluyen un laboratorio de citogen\u00e9tica con una plataforma de CGH en matriz y un laboratorio de gen\u00e9tica molecular con diagn\u00f3stico prenatal no invasivo y una plataforma de secuenciaci\u00f3n de \u00faltima generaci\u00f3n y bioinform\u00e1tica. En 2017, de acuerdo con el plan nacional \u201cFrance M\u00e9decine G\u00e9nomique 2025\u201d, se cre\u00f3 en Lyon la plataforma gen\u00f3mica AURAGEN, que ofrece an\u00e1lisis del genoma completo en un entorno de diagn\u00f3stico rutinario (<a href=\"https:\/\/www.chu-lyon.fr\/en\/auragen-genome-sequencing-platform-very-high-speed\">https:\/\/www.chu-lyon.fr\/en\/auragen-genome-sequencing-platform-very-high-speed<\/a>).<\/li><\/ul>\n\n\n\n<p class=\"wp-block-paragraph\">El equipo del HCP se dedica especialmente al desarrollo de diagn\u00f3sticos, tratamientos y terapias personalizados en el \u00e1mbito de las enfermedades del desarrollo, as\u00ed como a actividades docentes, con una amplia oferta de cursos de formaci\u00f3n, prestando especial atenci\u00f3n a las cuestiones \u00e9ticas.<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">El departamento de Gen\u00e9tica cuenta con un equipo de investigaci\u00f3n especializado en trastornos del desarrollo neurol\u00f3gico (Equipo de Gen\u00e9tica del Desarrollo Neurol\u00f3gico\/GENDEV, Centro de Investigaci\u00f3n en Neurociencias de Lyon\/CRNL, INSERM U1028, CNRS UMR 5292, Universidad de Lyon 1). El departamento de Neurolog\u00eda Infantil est\u00e1 adscrito a un equipo de investigaci\u00f3n especializado en cognici\u00f3n (L2C2, Instituto de Ciencias Cognitivas, CNRS UMR 5304, Universidad de Lyon 1).<\/p>\n\n\n\n<p class=\"wp-block-paragraph\">A nivel regional y nacional:<\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>El CLAD de Lyon coordina el Centro de Referencia interregional y multisede SUD-EST PACA para las anomal\u00edas del desarrollo, que incluye los servicios de gen\u00e9tica de Grenoble, Saint-\u00c9tienne, Clermont-Ferrand, Marsella, Niza y Toulon. Adem\u00e1s, colabora activamente en la red nacional de atenci\u00f3n sanitaria AnDDI-Rares (<a href=\"http:\/\/www.andi-rares.org\/\">andi-rares.org<\/a>) en relaci\u00f3n con pacientes que presentan una arteria cerebral media (MCA) con o sin disfunci\u00f3n cerebral (ID).<\/li><li>El CRDI coordina la red nacional de asistencia sanitaria D\u00e9fiScience (<a href=\"https:\/\/www.defiscience.fr\/\">https:\/\/www.defiscience.fr<\/a>) relacionadas con enfermedades raras caracterizadas por anomal\u00edas en el desarrollo cerebral y\/o discapacidad intelectual.<\/li><\/ul>","protected":false},"featured_media":0,"template":"","tags":[],"country":[6],"center-status":[15],"class_list":["post-389","expert-centers","type-expert-centers","status-publish","hentry","country-france","center-status-full-member"],"acf":{"name-city":"Lyon Center","representative":"Dr Massimiliano ROSSI","latitude":"45.767310 ","longitude":"4.834310","keywords-search":""},"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.7 - 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