{"id":45,"date":"2022-01-25T17:14:53","date_gmt":"2022-01-25T16:14:53","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?page_id=45"},"modified":"2024-10-31T10:11:43","modified_gmt":"2024-10-31T09:11:43","slug":"who-we-are","status":"publish","type":"page","link":"https:\/\/ern-ithaca.eu\/fr\/about-us\/who-we-are\/","title":{"rendered":"Qui sommes-nous ?"},"content":{"rendered":"

Qu'est-ce que le ERN-ITHACA ?<\/h2>\n\n\n\n

Le ERN ITHACA<\/strong> est le R\u00e9seau europ\u00e9en de r\u00e9f\u00e9rence<\/a> (ERN) pour les malformations rares, les d\u00e9ficiences intellectuelles et les troubles neurod\u00e9veloppementaux.<\/p>\n\n\n\n

Il a \u00e9t\u00e9 cr\u00e9\u00e9 en 2017 par la professeure Jill Clayton-Smith et le Manchester University NHS Foundation Trust. Apr\u00e8s un d\u00e9veloppement fructueux du r\u00e9seau, sa coordination a \u00e9t\u00e9 transf\u00e9r\u00e9e \u00e0 Assistance publique \u2013 H\u00f4pitaux de Paris (APHP) <\/strong>en novembre 2018, en pr\u00e9vision du Brexit. Le professeur Alain Verloes, directeur du service de g\u00e9n\u00e9tique clinique Robert Debr\u00e9, a ainsi \u00e9t\u00e9 \u00e9lu nouveau coordinateur du r\u00e9seau.<\/p>\n\n\n\n

Le r\u00e9seau compte aujourd\u2019hui 71 centres cliniques sp\u00e9cialis\u00e9s et 45 groupes europ\u00e9ens de d\u00e9fense des patients (EPAG) (voir la liste de nos centres sp\u00e9cialis\u00e9s et des ePAG). En partageant son expertise, son exp\u00e9rience et ses ressources, notre communaut\u00e9 vise \u00e0 faire progresser les soins aux patients, la recherche et l'acc\u00e8s \u00e0 l'information concernant les malformations cong\u00e9nitales rares et la d\u00e9ficience intellectuelle.<\/p>\n\n\n\n

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Le nom ITHACA<\/strong> signifie I<\/strong>d\u00e9ficience intellectuelle, T<\/strong>eleHealth, A<\/strong>l'autisme et C<\/strong>cong\u00e9nital A<\/strong>anomalies. Ce terme d\u00e9signe \u00e9galement le Odyss\u00e9e<\/strong> ce que repr\u00e9sente, pour de nombreuses familles, le parcours diagnostique d\u2019un enfant atteint d\u2019une maladie rare du d\u00e9veloppement.<\/p>\n<\/div>\n\n\n\n

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En r\u00e9sum\u00e9, nous sommes un r\u00e9seau centr\u00e9 sur le patient qui vise \u00e0 r\u00e9pondre aux besoins en mati\u00e8re de soins de sant\u00e9 hautement sp\u00e9cialis\u00e9s des patients atteints de syndromes de malformations rares et de troubles intellectuels ou neurod\u00e9veloppementaux rares, d\u2019origine tant g\u00e9n\u00e9tique (g\u00e9nomique ou chromosomique) qu\u2019environnementale, qu\u2019ils aient \u00e9t\u00e9 diagnostiqu\u00e9s ou non.<\/strong><\/p>\n\n\n\n

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ERN-ITHACA : R\u00e9seau et gouvernance<\/h2>\n\n\n\n
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Les membres de notre r\u00e9seau<\/h3>\n\n\n\n

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Nos membres sont Professionnels de sant\u00e9 europ\u00e9ens (HCP)<\/strong>, plus pr\u00e9cis\u00e9ment Centres hospitaliers universitaires sp\u00e9cialis\u00e9s dans les syndromes de malformations rares et les troubles neurod\u00e9veloppementaux<\/strong>. \u00c0 ce jour, l'ERN compte 71 centres r\u00e9partis dans 25 des 27 \u00c9tats membres de l'UE, ainsi qu'en Norv\u00e8ge. Notre r\u00e9seau de professionnels de sant\u00e9 dispense chaque ann\u00e9e les soins n\u00e9cessaires \u00e0 environ 51 500 nouveaux patients.<\/strong> chez qui on a diagnostiqu\u00e9 une anomalie rare du d\u00e9veloppement. L\u2019ERN ITHACA regroupe \u00e9galement le plus grand nombre d\u2019entit\u00e9s, ce qui lui conf\u00e8re la plus grande port\u00e9e et la plus large couverture des maladies parmi tous les ERN.<\/p>\n<\/div>\n\n\n\n

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Outre ces centres d'expertise, le r\u00e9seau ITHACA compte \u00e9galement parmi ses membres notre grand Communaut\u00e9 ePAGs<\/strong>: en 2024, 45 groupes de d\u00e9fense des int\u00e9r\u00eats europ\u00e9ens, \u00e9galement appel\u00e9s associations de patients, ont rejoint le r\u00e9seau ERN afin de collaborer avec nos cliniciens et nos chercheurs. Pour en savoir plus sur notre r\u00e9seau ePAGs, vous pouvez consulter notre page web d\u00e9di\u00e9e<\/a>.<\/p>\n\n\n\n

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Conseil d'administration <\/h3>\n\n\n\n

Le conseil d'administration de ITHACA<\/strong> Il est compos\u00e9 des repr\u00e9sentants des 71 membres, des membres du Comit\u00e9 ex\u00e9cutif qui ne sont pas d\u00e9j\u00e0 repr\u00e9sentants d\u2019un HCP, ainsi que des 5 membres du Conseil consultatif des patients. Il s\u2019agit de la plus haute instance d\u00e9cisionnelle de l\u2019ERN ITHACA ; \u00e0 ce titre, il d\u00e9finit les missions et l\u2019orientation strat\u00e9gique du r\u00e9seau : comment les activit\u00e9s du r\u00e9seau doivent-elles se d\u00e9velopper et s\u2019\u00e9tendre, comment collaborer avec d\u2019autres initiatives et partenaires europ\u00e9ens. Le Conseil se r\u00e9unit deux fois par an pour d\u00e9battre de ces questions strat\u00e9giques.<\/p>\n\n\n\n

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R\u00e9union du conseil d'administration de l'ERN ITHACA 2022 \u00e0 Madrid<\/em><\/p>\n\n\n\n

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Comit\u00e9 ex\u00e9cutif <\/h3>\n\n\n\n

Le Comit\u00e9 ex\u00e9cutif <\/strong>(ExCom) facilite la diffusion des informations provenant de l'UE vers les 71 centres de calcul haute performance (HPC) du r\u00e9seau. Il diffuse \u00e9galement les derni\u00e8res actualit\u00e9s concernant les groupes de travail et assure la communication entre eux. Les membres de l'ExCom sont : <\/p>\n\n\n\n

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  • Le coordinateur du programme ERN-ITHACA <\/li>\n\n\n\n
  • Tous les chefs de projet de l'\u00e9quipe de coordination<\/li>\n\n\n\n
  • Le pr\u00e9sident et l'un des copr\u00e9sidents de chaque groupe de travail<\/li>\n\n\n\n
  • Le pr\u00e9sident et le copr\u00e9sident du Conseil consultatif des patients<\/li>\n\n\n\n
  • Un repr\u00e9sentant de Orphanet, de l'EJP-RD et de Solve RD <\/li>\n<\/ul>\n\n\n\n

    Chaque membre du Comit\u00e9 ex\u00e9cutif dispose d'une voix, \u00e0 l'exception de l'\u00e9quipe de coordination qui en d\u00e9tient deux au total. Tous les copr\u00e9sidents des groupes de travail, qui ne disposent pas du droit de vote, peuvent \u00eatre invit\u00e9s aux r\u00e9unions du Conseil par le coordinateur. En cas d'\u00e9galit\u00e9 des voix, celle du coordinateur de l'ERN est pr\u00e9pond\u00e9rante. <\/p>\n\n\n\n

    Le comit\u00e9 ex\u00e9cutif se r\u00e9unit six fois par an, tous les deux mois : cinq r\u00e9unions en ligne (tous les deux mois) et une r\u00e9union en pr\u00e9sentiel qui se tient lors du congr\u00e8s de la Soci\u00e9t\u00e9 europ\u00e9enne de g\u00e9n\u00e9tique humaine (ESHG). L'ordre du jour et les comptes rendus sont pr\u00e9par\u00e9s par les chefs de projet.<\/p>\n\n\n\n

    \"\"<\/figure>\n\n\n\n

    R\u00e9union en pr\u00e9sentiel du Comit\u00e9 ex\u00e9cutif \u00e0 Berlin, dans le cadre du congr\u00e8s 2024 de l'ESHG<\/em><\/p>\n\n\n\n

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    Lots de travail<\/h3>\n\n\n\n

    Les activit\u00e9s de l'ERN ITHACA s'articulent autour de 10 lots de travail<\/strong>. Les six premiers suivent les recommandations de la Commission europ\u00e9enne visant \u00e0 harmoniser la structure organisationnelle de tous les r\u00e9seaux europ\u00e9ens d'excellence (ERN). \u00c0 cette structure de base, ITHACA a ajout\u00e9 quatre lots de travail : deux consacr\u00e9s \u00e0 des activit\u00e9s \u00e9troitement li\u00e9es \u00e0 la recherche clinique (lot de travail \u00ab Recherche \u00bb et groupe de travail \u00ab Registre \u00bb), et les deux autres couvrant les activit\u00e9s ax\u00e9es sur les patients (partage, prise en charge et traitement) dans les deux domaines d\u2019expertise de ITHACA : les troubles neurod\u00e9veloppementaux et les syndromes de malformations.<\/p>\n\n\n\n

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    Groupes de travail et groupes d'action <\/h3>\n\n\n\n

    Les groupes de travail sont les moteur<\/strong> derri\u00e8re les actions de l\u2019ERN : ils traduisent les axes strat\u00e9giques d\u00e9finis par le Conseil d\u2019administration et le Comit\u00e9 ex\u00e9cutif en projets et actions concrets. Un \u00ab Workpackage \u00bb peut impliquer plusieurs \u00ab Workgroups \u00bb, et l\u2019affectation d\u2019un \u00ab Workgroup \u00bb \u00e0 un \u00ab Workpackage \u00bb peut \u00e9voluer au fil du temps. Chaque groupe de travail est dirig\u00e9 par un pr\u00e9sident, qui est membre d\u2019un HCP ITHACA et est choisi pour son expertise dans le domaine. Le pr\u00e9sident met ensuite le groupe de travail en place en r\u00e9unissant plusieurs autres experts afin de collaborer sur un sujet donn\u00e9.<\/p>\n\n\n\n

    Les activit\u00e9s au sein d'un groupe de travail se r\u00e9partissent en plusieurs groupes de travail<\/strong>, chacune \u00e9tant supervis\u00e9e par un responsable de groupe de travail, qui fait office de copr\u00e9sident du groupe de travail. Une m\u00eame personne peut diriger plusieurs groupes de travail et le pr\u00e9sident lui-m\u00eame est responsable d\u2019au moins un groupe de travail. Les copr\u00e9sidents sont nomm\u00e9s en fonction de leur expertise personnelle et ne doivent pas n\u00e9cessairement \u00eatre membres d\u2019un HCP.<\/p>\n\n\n\n

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    Organigramme de ERN-ITHACA<\/em><\/p>\n\n\n\n

    <\/div>","protected":false},"excerpt":{"rendered":"

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