{"id":428,"date":"2022-02-08T20:43:47","date_gmt":"2022-02-08T19:43:47","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?post_type=expert-centers&p=428"},"modified":"2022-04-01T12:29:36","modified_gmt":"2022-04-01T10:29:36","slug":"ern-ithaca-reggio-emilia-center","status":"publish","type":"expert-centers","link":"https:\/\/ern-ithaca.eu\/fr\/about-us\/expert-centers\/ern-ithaca-reggio-emilia-center\/","title":{"rendered":"ERN-ITHACA \u2013 Centre de Reggio Emilia"},"content":{"rendered":"
\"\"<\/figure>\n\n\n\n

Unit\u00e9 complexe de g\u00e9n\u00e9tique m\u00e9dicale<\/strong>
D\u00e9partement de sant\u00e9 maternelle et infantile
Azienda USL \u2013 IRCCS de Reggio Emilia
Viale Risorgimento, 80
42123 Reggio Emilia, Italie<\/p>\n\n\n\n

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Site web<\/a><\/div>\n<\/div>\n\n\n\n
<\/div>\n\n\n\n

Plomb<\/h2>\n\n\n\n
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\"\"<\/figure>\n<\/div>\n\n\n\n
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Dr Livia Garavelli<\/strong><\/p>\n\n\n\n

T\u00e9l\u00e9phone<\/strong>: +39 0522 296244 \/ 295463<\/p>\n\n\n\n

Fax<\/strong>: +39 0522 296266<\/p>\n\n\n\n

Courrier<\/strong>:\u00a0livia.garavelli@ausl.re.it<\/a> <\/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 qu\u2019\u00e0 l\u2019aide de technologies de puces \u00e0 ADN), des anomalies dysmorphologiques multifactorielles et sporadiques, ainsi que des embryo-f\u0153topathies d\u2019origine environnementale <\/p>\n\n\n\n

* >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) <\/p>\n\n\n\n

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

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

Le service de g\u00e9n\u00e9tique m\u00e9dicale propose des consultations pour les enfants et les adultes, notamment des \u00e9valuations diagnostiques, des tests g\u00e9n\u00e9tiques, des consultations g\u00e9n\u00e9tiques et des d\u00e9pistages pr\u00e9nataux. Le service est divis\u00e9 en deux sections : une section clinique et une section laboratoire.<\/p>\n\n\n\n

Le service clinique est compos\u00e9 de six g\u00e9n\u00e9ticiens cliniciens, chacun dot\u00e9 d'une expertise sp\u00e9cifique, d'un biotechnologiste et d'une infirmi\u00e8re sp\u00e9cialis\u00e9e en g\u00e9n\u00e9tique. En collaboration avec l'ensemble du service de sant\u00e9 maternelle et infantile, il propose un service de consultation externe d\u00e9di\u00e9 au suivi des maladies g\u00e9n\u00e9tiques rares chez l'enfant.<\/p>\n\n\n\n

Nous proposons \u00e9galement des consultations pluridisciplinaires avec des n\u00e9onatologistes et un large \u00e9ventail de sp\u00e9cialistes en p\u00e9diatrie, notamment des neurologues et des neurophysiologistes, des endocrinologues, des n\u00e9phrologues, des rhumatologues, des gastro-ent\u00e9rologues et des sp\u00e9cialistes en r\u00e9\u00e9ducation. Nous collaborons \u00e9troitement avec divers th\u00e9rapeutes afin de r\u00e9pondre aux besoins m\u00e9dicaux pluridisciplinaires des patients, notamment des kin\u00e9sith\u00e9rapeutes, des assistants sociaux, des nutritionnistes et des orthophonistes. De plus, le service dispose d'une unit\u00e9 de soutien psychologique.<\/p>\n\n\n\n

Le service clinique travaille en \u00e9troite collaboration avec le laboratoire de diagnostic mol\u00e9culaire, qui propose des analyses cytog\u00e9n\u00e9tiques et mol\u00e9culaires \u00e0 la pointe de la technologie. Le service de laboratoire est compos\u00e9 de 6 biologistes, 6 techniciens et une secr\u00e9taire.<\/p>\n\n\n\n

Chaque mois, nous \u00e9valuons les progr\u00e8s r\u00e9alis\u00e9s en mati\u00e8re d'am\u00e9lioration de la qualit\u00e9 et organisons des discussions pluridisciplinaires autour de cas concrets.<\/p>\n\n\n\n

Notre service m\u00e8ne des recherches portant sur un large \u00e9ventail d'entit\u00e9s cliniques, principalement li\u00e9es aux syndromes associ\u00e9s \u00e0 une atteinte de l'art\u00e8re c\u00e9r\u00e9brale moyenne (MCA) et \u00e0 une d\u00e9ficience intellectuelle.<\/p>\n\n\n\n

Nous travaillons en \u00e9troite collaboration avec le service de neurologie p\u00e9diatrique, dirig\u00e9 par le Dr Carlo Fusco, repr\u00e9sentant suppl\u00e9ant, dans les domaines des malformations c\u00e9r\u00e9brales, de la neurophysiologie, de l'\u00e9pilepsie, ainsi que des maladies neuromusculaires et m\u00e9taboliques.<\/p>\n\n\n\n

Les patients atteints d'anomalies du tube neural sont pris en charge au \u2018 Centre de r\u00e9f\u00e9rence pour le spina bifida \u2019 du service de r\u00e9\u00e9ducation p\u00e9diatrique de niveau 3, dirig\u00e9 par le Dr Silvia Sassi.<\/p>\n\n\n\n

L'objectif est d'assurer une prise en charge pluridisciplinaire des patients atteints de maladies rares et d'approfondir les connaissances sur les manifestations de ces maladies, leur traitement et leur prise en charge, autour de trois axes principaux : les services m\u00e9dicaux, la recherche et la formation. Nous collaborons \u00e9troitement avec les associations de patients et d'autres centres de g\u00e9n\u00e9tique, dans le but principal d'am\u00e9liorer la qualit\u00e9 de vie des jeunes patients.<\/p>\n\n\n\n

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

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

L'Autorit\u00e9 sanitaire locale (AUSL) de Reggio Emilia est l'organisme charg\u00e9 de g\u00e9rer le Service national de sant\u00e9 dans la province.<\/p>\n\n\n\n

La mission consiste \u00e0 r\u00e9pondre aux besoins des citoyens en mati\u00e8re de sant\u00e9, en garantissant des interventions efficaces et opportunes en mati\u00e8re de promotion de la sant\u00e9, de pr\u00e9vention et de soins, accessibles sans barri\u00e8res culturelles, linguistiques ou socio-\u00e9conomiques, dans des conditions s\u00fbres et en utilisant efficacement les ressources disponibles.<\/p>\n\n\n\n

Il \u00e9tudie et encourage les formes d'int\u00e9gration, de participation et de collaboration, et promeut de nouvelles m\u00e9thodes de prestation de services adapt\u00e9es \u00e0 l'\u00e9volution de la demande et des besoins, \u00e0 la nouvelle culture de la sant\u00e9, ainsi qu'\u00e0 l'innovation continue et aux progr\u00e8s rapides des connaissances scientifiques et des technologies m\u00e9dicales.<\/p>\n\n\n\n

L'AUSL comprend un h\u00f4pital de recherche, l'IRCCS, reconnu par le ministre italien de la Sant\u00e9 dans le domaine des \u201c technologies de pointe et protocoles de soins en oncologie \u201c.<\/p>\n\n\n\n

Par ailleurs, l'AUSL-IRCCS a mis en place un programme de recherche dans le domaine de l'inflammation et de l'auto-immunit\u00e9.<\/p>\n\n\n\n

L'IRCCS soutient des projets de recherche dans le domaine de la pr\u00e9vention primaire et secondaire ainsi que de la m\u00e9decine personnalis\u00e9e, en accordant une attention particuli\u00e8re \u00e0 l'organisation et \u00e0 l'\u00e9valuation des parcours diagnostiques et th\u00e9rapeutiques.<\/p>\n\n\n\n

La Direction scientifique de l'IRCCS apporte son soutien aux chercheurs gr\u00e2ce \u00e0 l'unit\u00e9 \u201c Recherche sur les infrastructures et statistiques \u201d, compos\u00e9e des services suivants : secr\u00e9tariat du comit\u00e9 d'\u00e9thique ; bureau de coordination des essais cliniques de phase I ; unit\u00e9 m\u00e9thodologique et statistique ; biblioth\u00e8que m\u00e9dicale et bureau des subventions.<\/p>\n\n\n\n

Elle \u00e9labore des programmes de formation et de recherche, encourage l'innovation et d\u00e9finit les orientations de son syst\u00e8me de qualit\u00e9 afin de garantir que le public, de plus en plus qualifi\u00e9, b\u00e9n\u00e9ficie de services adapt\u00e9s, d'am\u00e9liorer les comp\u00e9tences et l'engagement de ses professionnels et de promouvoir la sant\u00e9 de la population locale de mani\u00e8re \u00e9quitable.<\/p>\n\n\n\n

L'h\u00f4pital Santa Maria Nuova est l'un des \u00e9tablissements hospitaliers les plus importants et les plus sp\u00e9cialis\u00e9s de la r\u00e9gion d'\u00c9milie-Romagne. Il compte 2 900 collaborateurs qui dispensent chaque jour des soins de r\u00e9f\u00e9rence de haut niveau \u00e0 10 500 patients en consultation externe. 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