{"id":10192,"date":"2023-07-05T15:30:53","date_gmt":"2023-07-05T13:30:53","guid":{"rendered":"https:\/\/www.tauli.cat\/institut\/?p=10192"},"modified":"2023-07-05T16:51:42","modified_gmt":"2023-07-05T14:51:42","slug":"el-parc-tauli-organitza-la-primera-jornada-europea-de-sindrome-dangelman-a-catalunya","status":"publish","type":"post","link":"https:\/\/www.tauli.cat\/institut\/actualitat\/noticies\/2023\/07\/el-parc-tauli-organitza-la-primera-jornada-europea-de-sindrome-dangelman-a-catalunya\/","title":{"rendered":"El Parc Taul\u00ed organitza la primera jornada europea de S\u00edndrome d\u2019Angelman a Catalunya","gt_translate_keys":[{"key":"rendered","format":"text"}]},"content":{"rendered":"
[vc_row][vc_column][vc_column_text]El\u00a0grup de recerca de\u00a0Trastorns del neurodesenvolupament de base gen\u00e8tica<\/a>\u00a0de l\u2019Institut d\u2019Investigaci\u00f3 i Innovaci\u00f3 Parc Taul\u00ed i la\u00a0Unitat de Neurologia Pedi\u00e0trica<\/a> del Parc Taul\u00ed que treballen en la investigaci\u00f3 i l\u2019assist\u00e8ncia de pacients amb S\u00edndrome d\u2019Angelman <\/strong>han\u00a0organitzat la primera edici\u00f3 de l\u2019European Workshop for Angelman Syndrome<\/strong> (EWAS), amb l\u2019objectiu de millorar l\u2019abordatge cl\u00ednic i la recerca d\u2019aquesta malaltia minorit\u00e0ria<\/strong>.<\/p>\n

Les jornades han reunit per primer cop a Catalunya<\/strong> professionals dels\u00a0centres experts en S\u00edndrome d\u2019Angelman d\u2019arreu d\u2019Europa<\/strong>, que han aprofundit en el coneixement dels mecanismes subjacents a aquesta S\u00edndrome.[\/vc_column_text][vc_row_inner][vc_column_inner width=”1\/2″]

\"\"<\/div>

<\/p> <\/div><\/div>[\/vc_column_inner][vc_column_inner width=”1\/2″][vc_column_text]La neuropediatria i investigadora de l\u2019I3PT Ana Roche, que ha liderat l\u2019organitzaci\u00f3 de les jornades, ha posat en valor la creaci\u00f3 del<\/strong> primer grup de treball europeu<\/strong> per unificar el maneig d’aquesta malaltia minorit\u00e0ria des d\u2019una perspectiva multidisciplin\u00e0ria i integral des de la primera inf\u00e0ncia fins a la vida adulta, coordinant pediatres, neuropediatres, psic\u00f2legs, neurofisi\u00f2legs, ortopedes, rehabilitadors, logopedes i fisioterapeutes.[\/vc_column_text][\/vc_column_inner][\/vc_row_inner][\/vc_column][vc_column][vc_column_text]La S\u00edndrome d\u2019Angelman \u00e9s un trastorn gen\u00e8tic que causa un retard en el desenvolupament, problemes de parla i equilibri, discapacitat intel\u00b7lectual i, de vegades, convulsions. Sol estar causat per problemes en un gen situat en el cromosoma 15.<\/p>\n

El Parc Taul\u00ed \u00e9s centre expert de la Xarxa d\u2019Unitats d\u2019Expertesa Cl\u00ednica<\/a> (XUEC) en Trastorns Cognitius Conductuals de Base Gen\u00e8tica en Edat Pedi\u00e0trica, essent el principal coordinador en el proc\u00e9s d\u2019atenci\u00f3 a la S\u00edndrome d\u2019Angelman .<\/p>\n

L\u2019EWAS ha comptat amb el reconeixement de l\u2019European Joint Programme for Rare Diseases i la participaci\u00f3 activa de fam\u00edlies de pacients de tot Europa i l\u2019Am\u00e8rica Llatina, aix\u00ed com el recolzament de la Foundation for Angelman Syndrome Therapeutics (FAST) i Asociaci\u00f3n del S\u00edndrome de Angelman (ASA). Aix\u00ed mateix, aquest esdeveniment ha rebut finan\u00e7ament del programa de recerca i innovaci\u00f3 Horizon 2020 de la Uni\u00f3 Europea sota l’EJP RD COFUND-EJP N\u00b0 825575.[\/vc_column_text][vc_row_inner][vc_column_inner width=”1\/4″][\/vc_column_inner][vc_column_inner width=”1\/4″]

\"\"<\/div>

<\/p> <\/div><\/div>[\/vc_column_inner][vc_column_inner width=”1\/4″]

\"\"<\/div>

<\/p> <\/div><\/div>[\/vc_column_inner][vc_column_inner width=”1\/4″][\/vc_column_inner][\/vc_row_inner][\/vc_column][\/vc_row]\n<\/div>","protected":false,"gt_translate_keys":[{"key":"rendered","format":"html"}]},"excerpt":{"rendered":"

L’objectiu de la primera edici\u00f3 de l’EWAS ha sigut millorar l\u2019abordatge cl\u00ednic i la recerca d\u2019aquesta malaltia minorit\u00e0ria<\/p>\n","protected":false,"gt_translate_keys":[{"key":"rendered","format":"html"}]},"author":24,"featured_media":10197,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":[],"categories":[1],"tags":[58,208,253],"gt_translate_keys":[{"key":"link","format":"url"}],"_links":{"self":[{"href":"https:\/\/www.tauli.cat\/institut\/wp-json\/wp\/v2\/posts\/10192"}],"collection":[{"href":"https:\/\/www.tauli.cat\/institut\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.tauli.cat\/institut\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.tauli.cat\/institut\/wp-json\/wp\/v2\/users\/24"}],"replies":[{"embeddable":true,"href":"https:\/\/www.tauli.cat\/institut\/wp-json\/wp\/v2\/comments?post=10192"}],"version-history":[{"count":10,"href":"https:\/\/www.tauli.cat\/institut\/wp-json\/wp\/v2\/posts\/10192\/revisions"}],"predecessor-version":[{"id":10205,"href":"https:\/\/www.tauli.cat\/institut\/wp-json\/wp\/v2\/posts\/10192\/revisions\/10205"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.tauli.cat\/institut\/wp-json\/wp\/v2\/media\/10197"}],"wp:attachment":[{"href":"https:\/\/www.tauli.cat\/institut\/wp-json\/wp\/v2\/media?parent=10192"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.tauli.cat\/institut\/wp-json\/wp\/v2\/categories?post=10192"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.tauli.cat\/institut\/wp-json\/wp\/v2\/tags?post=10192"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}