{"id":396,"date":"2022-02-08T13:17:01","date_gmt":"2022-02-08T12:17:01","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&p=396"},"modified":"2022-03-21T10:21:26","modified_gmt":"2022-03-21T09:21:26","slug":"ern-ithaca-rennes-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/fr\/about-us\/expert-centers\/ern-ithaca-rennes-center\/","title":{"rendered":"ERN-ITHACA \u2013 Centre de Rennes"},"content":{"rendered":"
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Service de g\u00e9n\u00e9tique clinique<\/strong>
P\u00f4le de p\u00e9diatrie m\u00e9dico-chirurgicale et de g\u00e9n\u00e9tique clinique
CHU de Rennes \u2013 H\u00f4pital Sud
16, boulevard de Bulgarie
35203 RENNES CEDEX 2
FRANCE<\/p>\n\n\n\n

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Site web<\/a><\/div>\n<\/div>\n\n\n\n
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Plomb<\/h2>\n\n\n\n
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Professeure Sylvie Odent<\/strong><\/p>\n\n\n\n

T\u00e9l\u00e9phone<\/strong>: +33 (0) 2 99 26 67 44<\/p>\n\n\n\n

Fax<\/strong>:\u00a0 33 (0)2 99 26 67 45<\/p>\n\n\n\n

e-mail : <\/strong>sylvie.odent@chu-rennes.fr<\/p>\n<\/div>\n<\/div>\n\n\n\n

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

Champ d'application<\/h2>\n\n\n\n

En tant que membre du R\u00e9seau europ\u00e9en de r\u00e9f\u00e9rence (ERN) ITHACA, notre centre est sp\u00e9cialis\u00e9 dans tous les syndromes se caract\u00e9risant par des anomalies du d\u00e9veloppement et\/ou une d\u00e9ficience intellectuelle (DI). Environ 1 nouveau-n\u00e9 sur 40 pr\u00e9sente une malformation cong\u00e9nitale (261 pour 10 000 f\u0153tus et nouveau-n\u00e9s selon les rapports EuroCAt), et 1 sur 40 est atteint de d\u00e9ficience intellectuelle. Par cons\u00e9quent, 3 \u00e0 5 % de toutes les naissances humaines pr\u00e9sentent ou d\u00e9velopperont une anomalie du d\u00e9veloppement, parmi lesquelles au moins 25 \u00e0 50 % sont d\u2019origine g\u00e9n\u00e9tique ou g\u00e9nomique. Cette population consid\u00e9rable repr\u00e9sente en r\u00e9alit\u00e9 la juxtaposition d\u2019un tr\u00e8s grand nombre de troubles individuellement rares pr\u00e9sentant une extr\u00eame diversit\u00e9 de causes et de ph\u00e9notypes. Le champ d\u2019action et le p\u00e9rim\u00e8tre d\u2019expertise de ce centre ITHACA comprennent :<\/p>\n\n\n\n

  • plus de 5 500 syndromes dysmorphiques et anomalies cong\u00e9nitales multiples (MCA) (r\u00e9pertori\u00e9s dans la base de donn\u00e9es de dysmorphologie de Londres), parmi lesquels plus de 3 000 maladies monog\u00e9niques, toutes les anomalies chromosomiques (dont la plupart ne sont d\u00e9tectables que gr\u00e2ce aux technologies de puces \u00e0 ADN), des anomalies dysmorphologiques multifactorielles et sporadiques, ainsi que des embryof\u00e9topathies d\u2019origine environnementale<\/li>
  • >1 500 formes monog\u00e9niques et plusieurs centaines de formes chromosomiques de d\u00e9ficience intellectuelle, associ\u00e9es ou non \u00e0 un trouble du spectre autistique (TSA)<\/li><\/ul>\n\n\n\n
    <\/div>\n\n\n\n

    Service aux patients<\/h2>\n\n\n\n

    Le service de g\u00e9n\u00e9tique clinique de l'h\u00f4pital universitaire de Rennes couvre une grande partie de la r\u00e9gion Bretagne et des d\u00e9partements limitrophes, ce qui correspond \u00e0 une population d'environ 3 millions d'habitants. Le Centre de r\u00e9f\u00e9rence de Rennes pour les troubles du d\u00e9veloppement et les troubles intellectuels (CLAD-Ouest)<\/strong> est situ\u00e9 au Centre hospitalier universitaire de Rennes, rattach\u00e9 au service de g\u00e9n\u00e9tique clinique, et a \u00e9t\u00e9 agr\u00e9\u00e9 en France en 2010. Le Centre apporte son expertise dans les domaines du diagnostic, des soins, de l'enseignement et de la recherche, et participe \u00e0 la surveillance \u00e9pid\u00e9miologique dans le domaine des anomalies du d\u00e9veloppement, de l'enfance \u00e0 l'\u00e2ge adulte, ainsi que pendant la p\u00e9riode f\u0153tale. Les patients peuvent b\u00e9n\u00e9ficier des technologies de diagnostic les plus r\u00e9centes, notamment le s\u00e9quen\u00e7age de l\u2019exome entier et du g\u00e9nome entier. Le service de g\u00e9n\u00e9tique clinique comprend 1 g\u00e9n\u00e9ticien titulaire d\u2019un doctorat en m\u00e9decine (MD-PhD), 6 g\u00e9n\u00e9ticiens titulaires d\u2019un doctorat en m\u00e9decine (MD), 1 neurologue titulaire d\u2019un doctorat en m\u00e9decine (MD), 1 p\u00e9diatre titulaire d\u2019un doctorat en m\u00e9decine (MD), 1 neurop\u00e9diatre sp\u00e9cialis\u00e9 en m\u00e9tabolisme titulaire d\u2019un doctorat en m\u00e9decine (MD), 2 conseillers en g\u00e9n\u00e9tique, 2 infirmi\u00e8res, 1 psychologue, 2 neuropsychologues, 1 di\u00e9t\u00e9ticien et 1 assistant social. Les patients sont pris en charge au sein de l\u2019unit\u00e9 de consultation m\u00e9dicale ou dans le service de hospitalisation de jour. Des liens \u00e9troits unissent le service au Centre de r\u00e9f\u00e9rence pour les d\u00e9ficiences intellectuelles d\u2019origine rare, \u00e9galement soutenu par le service de g\u00e9n\u00e9tique clinique, au service de neurologie p\u00e9diatrique et au Centre multidisciplinaire de diagnostic pr\u00e9natal.<\/p>\n\n\n\n

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

    Organisation du centre<\/h2>\n\n\n\n

    Le Centre de r\u00e9f\u00e9rence de Rennes pour les troubles du d\u00e9veloppement et les troubles intellectuels (CLAD-Ouest),<\/strong> Cr\u00e9\u00e9 en 2010 puis r\u00e9organis\u00e9 en 2017, il est coordonn\u00e9 par le professeur Sylvie ODENT (Service de g\u00e9n\u00e9tique clinique, Centre hospitalier universitaire de Rennes, France) et rassemble une \u00e9quipe m\u00e9dicale pluridisciplinaire et hautement sp\u00e9cialis\u00e9e, organis\u00e9e en centre multisite dans la r\u00e9gion Ouest. Le CLAD-Ouest s'\u00e9tend sur le Centre hospitalier universitaire de Rennes (site coordinateur), les centres de r\u00e9f\u00e9rence des centres hospitaliers universitaires d'Angers, de Nantes et de Tours, ainsi que le centre de comp\u00e9tence du centre hospitalier universitaire de Brest, du centre hospitalier de Vannes et du centre hospitalier du Mans.<\/p>\n\n\n\n

    Les experts de ces sept centres collaborent depuis plusieurs ann\u00e9es, notamment au sein du groupe de g\u00e9n\u00e9tique de l'Ouest (R\u00e9seau GEM-EXCELL)<\/strong> et maintenant, le F\u00e9d\u00e9ration des h\u00f4pitaux universitaires<\/strong> GenOMedS<\/strong>,<\/strong> r\u00e9cemment accr\u00e9dit\u00e9 et coordonn\u00e9 par le professeur Sylvie ODENT. GenOMedS se consacre au d\u00e9veloppement des soins, de la recherche et de l\u2019enseignement\/formation dans le domaine des maladies g\u00e9n\u00e9tiques, en s\u2019appuyant sur les sciences humaines et sociales. Ce projet innovant s\u2019appuie sur un r\u00e9seau interr\u00e9gional int\u00e9gr\u00e9 en m\u00e9decine multi-omique (g\u00e9nomique, transcriptomique, m\u00e9tabolomique, prot\u00e9omique) et introduit la notion de \u201c personomique \u201d, qui consiste \u00e0 faire de la personne un acteur de son parcours de soins.<\/p>\n\n\n\n

    Le CLAD-Ouest fait partie du r\u00e9seau national. Il s'agit de l'un des six centres de r\u00e9f\u00e9rence de coordination des maladies rares qui font partie du AnDDI-Rares<\/strong> r\u00e9seau (un r\u00e9seau national consacr\u00e9 aux maladies rares caract\u00e9ris\u00e9es par des anomalies somatiques et cognitives du d\u00e9veloppement).<\/p>\n\n\n\n

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

    Centre de r\u00e9f\u00e9rence pour les malformations de Chiari, les malformations vert\u00e9brales et m\u00e9dullaires \u2013 dysraphisme spinal (C-MAVEM)<\/h2>\n\n\n\n

    Un deuxi\u00e8me centre national de r\u00e9f\u00e9rence op\u00e8re au sein de la structure du HCP et intervient dans la prise en charge du dysraphisme spinal. Ce centre \u00e9tait jusqu\u2019\u00e0 pr\u00e9sent coordonn\u00e9 par le Dr Andrea Manunta et sera coordonn\u00e9 \u00e0 partir de cette ann\u00e9e 2022 par le Dr Benoit Peyronnet, urologue. Il existe diff\u00e9rentes formes de dysraphisme spinal ; dans la plupart d\u2019entre elles, le handicap ne se limite pas au syst\u00e8me nerveux et a un impact majeur sur les syst\u00e8mes musculo-squelettique, urinaire et gastro-intestinal. Le handicap li\u00e9 au dysraphisme spinal est donc variable d\u2019un patient \u00e0 l\u2019autre. Le Centre national de r\u00e9f\u00e9rence pour le spina bifida propose une approche multidisciplinaire et une expertise dans la prise en charge des patients adultes et p\u00e9diatriques. Vingt-cinq professionnels (m\u00e9decins et personnels param\u00e9dicaux) assurent une prise en charge compl\u00e8te de tous les diff\u00e9rents aspects de cette pathologie complexe. Le conseil g\u00e9n\u00e9tique est assur\u00e9 au sein de ce centre par le conseiller en g\u00e9n\u00e9tique du CLAD-Ouest.<\/p>","protected":false},"featured_media":0,"template":"","tags":[],"country":[6],"center-status":[15],"class_list":["post-396","expert-centers","type-expert-centers","status-publish","hentry","country-france","center-status-full-member"],"acf":{"name-city":"Rennes Center","representative":"Pr Sylvie Odent","latitude":"48.111778 ","longitude":"-1.680260","keywords-search":""},"yoast_head":"\nERN-ITHACA \u2013 Rennes 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\/fr\/about-us\/expert-centers\/ern-ithaca-rennes-center\/\" \/>\n<meta property=\"og:locale\" content=\"fr_FR\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"ERN-ITHACA \u2013 Rennes Center - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Service de g\u00e9n\u00e9tique cliniqueP\u00f4le de p\u00e9diatrie m\u00e9dico-chirurgicale et g\u00e9n\u00e9tique cliniqueCHU de Rennes \u2013 H\u00f4pital Sud16 Boulevard de Bulgarie35203 RENNES CEDEX 2FRANCE Lead Pr Sylvie Odent Telephone: +33 (0) 2 99 26 67 44 Fax:\u00a0 33 (0)2 99 26 67 45 e-mail: sylvie.odent@chu-rennes.fr Scope The area of expertise of our Centre, as member of the ITHACA European Reference […]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/ern-ithaca.eu\/fr\/about-us\/expert-centers\/ern-ithaca-rennes-center\/\" \/>\n<meta property=\"og:site_name\" content=\"ERN ITHACA\" \/>\n<meta property=\"article:modified_time\" content=\"2022-03-21T09:21:26+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/ern-ithaca.eu\/wp-content\/uploads\/2022\/03\/Rennes_Hopital_Sud.jpg\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:site\" content=\"@ERNIthaca\" \/>\n<meta name=\"twitter:label1\" content=\"Dur\u00e9e de lecture estim\u00e9e\" \/>\n\t<meta name=\"twitter:data1\" content=\"4 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/ern-ithaca-rennes-center\\\/\",\"url\":\"https:\\\/\\\/ern-ithaca.eu\\\/about-us\\\/expert-centers\\\/ern-ithaca-rennes-center\\\/\",\"name\":\"ERN-ITHACA \u2013 Rennes Center - 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