{"id":229,"date":"2022-02-07T14:58:23","date_gmt":"2022-02-07T13:58:23","guid":{"rendered":"https:\/\/ern-ithaca.eu\/?page_id=229"},"modified":"2025-04-07T11:19:43","modified_gmt":"2025-04-07T09:19:43","slug":"neurodevelopmental-disorders","status":"publish","type":"page","link":"https:\/\/ern-ithaca.eu\/it\/our-workgroups\/neurodevelopmental-disorders\/","title":{"rendered":"Disturbi dello sviluppo neurologico (WG5)"},"content":{"rendered":"

Presidente e copresidente del gruppo di lavoro <\/h2>\n\n\n\n
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\"\"<\/figure>\n<\/div>\n\n\n\n
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Dott.ssa Tjitske Kleefstra<\/strong>
(Rotterdam)<\/p>\n<\/div>\n\n\n\n

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\"\"<\/figure>\n<\/div>\n\n\n\n
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Dott.ssa Christiane Zweier <\/strong>
(Berna)<\/p>\n<\/div>\n<\/div>\n\n\n\n

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

Questo gruppo di lavoro \u00e8 dedicato a miglioramento della conoscenza e della comprensione dei disturbi neuroevolutivi genetici rari<\/strong>, che sono migliaia ma di cui, per la maggior parte, si sa ben poco. <\/p>\n\n\n\n

\u00c8 suddiviso in 4 gruppi di lavoro<\/strong>: i primi due mirano a mettere in rete esperti nei rispettivi settori della disabilit\u00e0 intellettiva e della psichiatria; gli altri due sono dedicati a progetti specifici: l\u2019organizzazione di un congresso europeo senza precedenti sui disturbi neuroevolutivi rari e la creazione di una banca dati genetica specifica per i disturbi neuroevolutivi. <\/p>\n\n\n\n

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

Disabilit\u00e0 intellettive (ID) e disturbi dello spettro autistico (ASD) <\/h2>\n\n\n\n

La task force ID & ASD mira a riunire esperti e parti interessate del programma ERN-ITHACA impegnati a migliorare la gestione dell'assistenza per bambini con disabilit\u00e0 intellettiva grave e anziani, con particolare attenzione alla transizione e alla vita quotidiana<\/strong>. Il suo scopo \u00e8 quello di creare un ambiente collaborativo in cui i partecipanti possano condividere le proprie opinioni e idee su come affrontare le sfide che i pazienti con disabilit\u00e0 intellettiva grave e gli anziani devono affrontare nella gestione delle loro cure.  <\/p>\n\n\n\n

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

Psichiatria e genetica  <\/h2>\n\n\n\n

Questo gruppo di lavoro mira a riunire esperti nei campi della genetica e della psicopatologia per discutere dell\u2019attuale rete di scambio di conoscenze sul tema \u201cgenetica \u2013 psicopatologia\u201d e valutare l\u2019opportunit\u00e0 di istituire un piattaforma europea sostenibile per il dialogo in questi ambiti<\/strong>. Questa rete interna costituir\u00e0 la base per la condivisione delle migliori pratiche da un punto di vista multidisciplinare, compresa la prospettiva degli esperti per esperienza diretta, e per l\u2019individuazione di idee volte a migliorare le modalit\u00e0 di assistenza alle persone affette da disturbi neuroevolutivi genetici rari e che devono affrontare problemi psichiatrici<\/strong>.\u00a0<\/p>\n\n\n\n

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

EuroNDD <\/h2>\n\n\n\n

EuroNDD \u00e8 il primo workshop dell\u2019Unione Europea dedicato ai disturbi neuroevolutivi genetici rari. L'evento \u00e8 stato lanciato per la prima volta nel 2023 e ha riunito circa 250 esperti ad Amsterdam, dove sono stati discussi temi di ampio respiro relativi ai disturbi dello sviluppo neurologico (NDD), quali la disabilit\u00e0 intellettiva, la neuropsichiatria, la condivisione dei dati e i registri, la transizione assistenziale, gli sviluppi terapeutici e la ricerca preclinica nei sistemi modello. La seconda edizione del workshop si \u00e8 tenuta a Lisbona il 4 e 5 aprile 2024, mentre la terza edizione \u00e8 prevista per il 2026 a Varsavia.\u00a0<\/p>\n\n\n\n

Per saperne di pi\u00f9 sul workshop: https:\/\/ern-ithaca.eu\/events\/eurondd\/<\/a>  <\/p>\n\n\n\n

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Workshop EuroNDD 2024 \u2013 Lisbona, Portogallo<\/em><\/p>\n<\/div>\n\n\n\n

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

SysNDD <\/h2>\n\n\n\n

Il SysNDD \u00e8 un database genetico online che pu\u00f2 essere utilizzato a fini diagnostici. Contiene un catalogo curato manualmente di geni pubblicati implicati nei disturbi dello sviluppo neurologico (NDD) e classificati in geni primari e geni candidati in base al grado di evidenza scientifica a loro sostegno. Attraverso questa task force, il ITHACA intende sostenere lo sviluppo del database.  <\/p>\n\n\n\n

Per saperne di pi\u00f9 su SysNDD: https:\/\/ern-ithaca.eu\/documentation\/sysndd\/<\/a>  <\/p>\n\n\n\n

\"\"<\/figure>\n\n\n\n
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Workgroup Chair and Co-Chair Dr Tjitske Kleefstra(Rotterdam) Dr Christiane Zweier (Berne) This workgroup is dedicated to the improvement of the knowledge and understanding of rare genetic neurodevelomental disorders, which number in the thousands but are poorly known for the most part. 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