{"id":541,"date":"2022-02-13T14:03:49","date_gmt":"2022-02-13T13:03:49","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&p=541"},"modified":"2022-02-23T11:39:00","modified_gmt":"2022-02-23T10:39:00","slug":"ern-ithaca-barcelona-san-joan-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/fr\/about-us\/expert-centers\/ern-ithaca-barcelona-san-joan-center\/","title":{"rendered":"ERN-ITHACA \u2013 Centre San Joan de Deu de Barcelone"},"content":{"rendered":"
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D\u00e9partement de m\u00e9decine g\u00e9n\u00e9tique et du d\u00e9veloppement et IPER
SJD \u2013 H\u00f4pital p\u00e9diatrique Sant Joan de D\u00e9u, Universit\u00e9 de Barcelone
2, Passeig Sant Joan de D\u00e9u
08950 Esplugues de Llobregat, BARCELONE
ESPAGNE<\/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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Professeur Francesc Palau, docteur \u00e8s sciences <\/p>\n\n\n\n

T\u00e9l\u00e9phone<\/strong>: +33 (0)123 45 6789<\/p>\n\n\n\n

Fax<\/strong>: +33 (0)123 45 6780<\/p>\n\n\n\n

E-mail :<\/strong> lorem.ipsum@aphp.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 les syndromes se caract\u00e9risant par une d\u00e9ficience intellectuelle (DI) et\/ou des malformations cong\u00e9nitales rares, avec un int\u00e9r\u00eat particulier pour les diff\u00e9rentes formes de malformations craniofaciales. Environ 1 nouveau-n\u00e9 sur 40 pr\u00e9sente une malformation cong\u00e9nitale et jusqu\u2019\u00e0 2% souffrent ou pr\u00e9senteront une d\u00e9ficience intellectuelle, caus\u00e9es par diff\u00e9rentes maladies rares prises individuellement, parmi lesquelles jusqu\u2019\u00e0 50% sont d\u2019origine g\u00e9n\u00e9tique ou g\u00e9nomique. Le champ d\u2019action et le p\u00e9rim\u00e8tre d\u2019expertise du Centre de D\u00fcsseldorf ITHACA comprennent :<\/p>\n\n\n\n

  • plus de 5 500 syndromes dysmorphologiques et d\u2019anomalies cong\u00e9nitales multiples (MCA) (r\u00e9pertori\u00e9s dans la base de donn\u00e9es de dysmorphologie de Londres), comprenant des maladies monog\u00e9niques, des anomalies chromosomiques (d\u00e9tectables par analyse chromosomique conventionnelle et\/ou par la technologie CGH-Array), des anomalies multifactorielles ou sporadiques ainsi que des embryof\u00e9topathies d\u2019origine environnementale<\/li>
  • >1 500 formes monog\u00e9niques et des 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
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    Service aux patients<\/h2>\n\n\n\n

    L'h\u00f4pital p\u00e9diatrique Sant Joan de D\u00e9u de Barcelone (SJD) propose deux services coordonn\u00e9s destin\u00e9s \u00e0 la prise en charge des enfants atteints de maladies rares et g\u00e9n\u00e9tiques : le Service de m\u00e9decine g\u00e9n\u00e9tique et du d\u00e9veloppement et l'Institut p\u00e9diatrique des maladies rares. Nous nous concentrons sur le diagnostic, la prise en charge et le traitement des maladies non diagnostiqu\u00e9es et rares (URD), en \u00e9troite collaboration avec d\u2019autres services cliniques au sein d\u2019un vaste r\u00e9seau couvrant l\u2019ensemble du SJD et m\u00eame au-del\u00e0.<\/p>\n\n\n\n

    Le service de m\u00e9decine g\u00e9n\u00e9tique et du d\u00e9veloppement (GeneDevo) propose aux enfants divers services, notamment des consultations diagnostiques, des consultations g\u00e9n\u00e9tiques, des laboratoires de diagnostic en g\u00e9n\u00e9tique et en g\u00e9nomique, ainsi que des d\u00e9pistages pr\u00e9nataux.\u00a0 Actuellement, l'\u00e9quipe se compose de trois g\u00e9n\u00e9ticiens cliniciens, d'un neurologue p\u00e9diatrique sp\u00e9cialis\u00e9 en neurog\u00e9n\u00e9tique, d'un interne en g\u00e9n\u00e9tique clinique et dysmorphologie, de deux conseillers en g\u00e9n\u00e9tique, d'un gestionnaire de cas, de huit chercheurs cliniques sp\u00e9cialis\u00e9s en g\u00e9n\u00e9tique et g\u00e9nomique de laboratoire, de deux bioinformaticiens cliniques et d'un biologiste sp\u00e9cialis\u00e9 en biologie cellulaire et en imagerie m\u00e9dicale.<\/p>\n\n\n\n

    L'Institut p\u00e9diatrique des maladies rares (IPER) propose des services de prise en charge clinique des enfants atteints de maladies rares et de pathologies complexes, en favorisant la mise en place de consultations coordonn\u00e9es par des \u00e9quipes m\u00e9dicales pluridisciplinaires. Les besoins de ce groupe de patients sont pris en charge gr\u00e2ce aux \u2018 plans fonctionnels \u2019 et aux \u2018 journ\u00e9es th\u00e9matiques \u2019, qui comprennent des consultations aupr\u00e8s d\u2019autres sp\u00e9cialistes, notamment des neurologues, des endocrinologues, des cardiologues, des ophtalmologues, des otologues, des dermatologues, des chirurgiens et des dentistes pour les patients p\u00e9diatriques. Si n\u00e9cessaire, les patients sont \u00e9galement orient\u00e9s vers des kin\u00e9sith\u00e9rapeutes, des travailleurs sociaux, des nutritionnistes et des conseillers en r\u00e9adaptation. Nous orientons les patients pr\u00e9sentant des malformations cong\u00e9nitales et un retard de d\u00e9veloppement vers les professionnels sp\u00e9cialis\u00e9s de la clinique o\u00f9 le suivi est assur\u00e9.<\/p>\n\n\n\n

    Nous collaborons \u00e9galement avec des psychologues et des p\u00e9dopsychiatres du Service de sant\u00e9 mentale infantile. Un accompagnement psychosocial est \u00e9galement propos\u00e9 par le biais du R\u00e9seau catalan des centres de sant\u00e9 mentale pour enfants et adolescents (CSMIJ). Afin de r\u00e9pondre aux besoins sociaux li\u00e9s \u00e0 une maladie rare, les patients re\u00e7oivent des informations \u00e9crites ainsi que les coordonn\u00e9es des associations de patients existantes.<\/p>\n\n\n\n

    La recherche translationnelle est men\u00e9e en collaboration avec le groupe de recherche en neurog\u00e9n\u00e9tique et m\u00e9decine g\u00e9nomique de l'Institut de recherche SJD, qui propose un programme de diagnostic translationnel (TDP) destin\u00e9 \u00e0 la validation fonctionnelle des variants g\u00e9n\u00e9tiques chez les patients atteints de maladies g\u00e9n\u00e9tiques rares.<\/p>\n\n\n\n

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

    Organisation du Centre <\/strong><\/h2>\n\n\n\n

    L'h\u00f4pital p\u00e9diatrique SJD de Barcelone vient en aide \u00e0 l'ensemble de la population, sans aucune exclusion, gr\u00e2ce \u00e0 l'accord conclu avec le Service de sant\u00e9 catalan (CatSalut) et le Syst\u00e8me national de sant\u00e9 espagnol. Avec plus de 2 200 collaborateurs, 314 lits et 161 salles de consultation externe, il figure parmi les plus grands h\u00f4pitaux p\u00e9diatriques et gyn\u00e9cologiques d\u2019Espagne et d\u2019Europe, offrant des services de pointe dans la plupart des sp\u00e9cialit\u00e9s de m\u00e9decine et de chirurgie p\u00e9diatriques. Le SJD dispose d\u2019un nombre suffisant de blocs op\u00e9ratoires, d\u2019unit\u00e9s de soins intensifs, de chambres d\u2019isolement, ainsi que de services disponibles 24 heures sur 24, 7 jours sur 7, et d\u2019un service de secours d\u2019urgence. Il est reconnu par 21 r\u00e9seaux europ\u00e9ens de r\u00e9f\u00e9rence pour les maladies rares et complexes, ainsi que par 42 services de r\u00e9f\u00e9rence en p\u00e9diatrie d\u00e9sign\u00e9s par le minist\u00e8re espagnol de la Sant\u00e9 et le gouvernement catalan. Ces accr\u00e9ditations attestent de l\u2019expertise clinique des services et des unit\u00e9s, de leur capacit\u00e9 \u00e0 mener des recherches, \u00e0 \u00e9changer des informations et \u00e0 travailler en r\u00e9seau, ainsi que de la formation de leurs professionnels et de la qualit\u00e9 de leurs installations. En tant qu\u2019h\u00f4pital territorial, nous offrons nos services \u00e0 350 000 habitants \u00e2g\u00e9s de moins de 18 ans sur une population totale de 1,9 million d\u2019habitants, et en tant qu\u2019h\u00f4pital de r\u00e9f\u00e9rence p\u00e9diatrique au sein du r\u00e9seau CatSalut, nous desservons 7,5 millions d\u2019habitants.<\/p>\n\n\n\n

    Le laboratoire SJD, notre laboratoire accr\u00e9dit\u00e9 et certifi\u00e9 appartenant au groupement hospitalier, r\u00e9alise plus de 2,8 millions d'analyses par an. Les laboratoires GeneDevo et le laboratoire de g\u00e9n\u00e9tique mol\u00e9culaire du cancer r\u00e9alisent environ 25 000 tests g\u00e9n\u00e9tiques par an, notamment des analyses g\u00e9nomiques \u00e0 l'aide d'\u00e9quipements de s\u00e9quen\u00e7age de nouvelle g\u00e9n\u00e9ration (NGS), des tests de g\u00e9n\u00e9tique mol\u00e9culaire, des tests cytog\u00e9nomiques (arrayCGH) et des \u00e9tudes cytog\u00e9n\u00e9tiques. Le service de diagnostic par imagerie m\u00e9dicale du SJD propose des prestations (par exemple : radiographies, scanners, \u00e9chographies, tomodensitom\u00e9trie, IRM, TEP-TDM) couvrant les besoins de toutes les sp\u00e9cialit\u00e9s.<\/p>\n\n\n\n

    L'Institut de recherche SJD propose des programmes dans ces domaines, en mettant particuli\u00e8rement l'accent sur la m\u00e9decine de pr\u00e9cision pour les maladies rares, la g\u00e9n\u00e9tique humaine et la g\u00e9nomique, les neurosciences, le cancer p\u00e9diatrique et du d\u00e9veloppement, l'endocrinologie, l'immunologie et les maladies infectieuses, ainsi que sur les groupes cliniques associ\u00e9s en cardiologie, orthop\u00e9die et m\u00e9decine intensive et d'urgence.<\/p>\n\n\n\n

    L'h\u00f4pital p\u00e9diatrique SJD de Barcelone est un h\u00f4pital universitaire rattach\u00e9 \u00e0 l'Universit\u00e9 de Barcelone. Son activit\u00e9 d'enseignement comprend des formations de troisi\u00e8me cycle en m\u00e9decine et en soins infirmiers (p\u00e9diatrie, obst\u00e9trique et gyn\u00e9cologie), diverses sp\u00e9cialit\u00e9s m\u00e9dicales et infirmi\u00e8res, ainsi que des formations de troisi\u00e8me cycle, notamment des masters dans diverses sous-sp\u00e9cialit\u00e9s p\u00e9diatriques et des programmes MD\/PhD et de doctorat.<\/p>","protected":false},"featured_media":0,"template":"","tags":[],"country":[89],"center-status":[15],"class_list":["post-541","expert-centers","type-expert-centers","status-publish","hentry","country-spain","center-status-full-member"],"acf":{"name-city":"Barcelona San Joan de D\u00e9u Center","representative":"Pr Dr Francesc Palau ","latitude":"41.528953 ","longitude":"2.181548","keywords-search":""},"yoast_head":"\nERN-ITHACA \u2013 Barcelona San Joan de Deu 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-barcelona-san-joan-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 Barcelona San Joan de Deu Center - ERN ITHACA\" \/>\n<meta property=\"og:description\" content=\"Department of Genetic and Developmental Medicine and IPERSJD \u2013 Sant Joan de D\u00e9u Children\u2019s Hospital, University of BarcelonaPasseig Sant Joan de D\u00e9u 208950 Esplugues de Llobregat, BARCELONASPAIN Lead Pr. 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