{"id":6792,"date":"2025-06-25T10:43:33","date_gmt":"2025-06-25T10:43:33","guid":{"rendered":"https:\/\/cureclcn4.org\/conferencia-cientifica-cure-clcn4-destaques-para-as-familias\/"},"modified":"2025-06-25T10:43:36","modified_gmt":"2025-06-25T10:43:36","slug":"conferencia-cientifica-cure-clcn4-destaques-para-as-familias","status":"publish","type":"post","link":"https:\/\/cureclcn4.org\/pt-br\/conferencia-cientifica-cure-clcn4-destaques-para-as-familias\/","title":{"rendered":"Confer\u00eancia Cient\u00edfica Cure CLCN4 &#8211; Destaques para as fam\u00edlias"},"content":{"rendered":"<p>[et_pb_section fb_built=&#8221;1&#8243; admin_label=&#8221;Get Involved&#8221; _builder_version=&#8221;4.24.2&#8243; background_color=&#8221;#FFFFFF&#8221; background_image=&#8221;https:\/\/cureclcn4.org\/wp-content\/uploads\/2020\/08\/charity-13.png&#8221; parallax=&#8221;on&#8221; width=&#8221;100%&#8221; custom_padding=&#8221;0|0px|0px|0px|false|false&#8221; use_custom_width=&#8221;on&#8221; custom_width_px=&#8221;1200px&#8221; 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text_font_size=&#8221;5px&#8221; text_line_height=&#8221;2em&#8221; header_font=&#8221;Faustina|600|||||||&#8221; header_text_color=&#8221;#0e7162&#8243; header_font_size=&#8221;57px&#8221; header_line_height=&#8221;1.3em&#8221; width=&#8221;94.4%&#8221; min_height=&#8221;83px&#8221; custom_margin=&#8221;-19px|||19px|false|false&#8221; header_font_size_tablet=&#8221;50px&#8221; header_font_size_phone=&#8221;40px&#8221; header_font_size_last_edited=&#8221;on|phone&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<h1 style=\"text-align: center;\"><\/h1>\n<h1 style=\"text-align: center;\">Confer\u00eancia Cient\u00edfica Cure CLCN4 &#8211; Destaques para as fam\u00edlias<\/h1>\n<p>[\/et_pb_text][et_pb_image src=&#8221;https:\/\/cureclcn4.org\/wp-content\/uploads\/2025\/06\/04258F6F-F016-42AE-9A6D-75C73A4A5351_1_105_c-copy.jpeg&#8221; title_text=&#8221;04258F6F-F016-42AE-9A6D-75C73A4A5351_1_105_c copy&#8221; _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_image][et_pb_text _builder_version=&#8221;4.27.4&#8243; text_font=&#8221;||||||||&#8221; text_font_size=&#8221;20px&#8221; text_line_height=&#8221;2em&#8221; header_font=&#8221;Faustina||||||||&#8221; header_text_color=&#8221;#0e7162&#8243; header_font_size=&#8221;60px&#8221; header_line_height=&#8221;1.3em&#8221; text_orientation=&#8221;justified&#8221; min_height=&#8221;52px&#8221; custom_margin=&#8221;|5px||5px|false|true&#8221; custom_padding=&#8221;|10px||10px|false|true&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<p style=\"font-weight: 400;\"><span>Recentemente, reunimos os principais cientistas e cl\u00ednicos para compartilhar as \u00faltimas pesquisas e ideias para entender melhor a condi\u00e7\u00e3o <em>relacionada ao CLCN4<\/em>. <\/span><span>Aqui est\u00e3o algumas das principais conclus\u00f5es da confer\u00eancia, em linguagem simples:<\/span><\/p>\n<p style=\"text-align: center;\">[\/et_pb_text][et_pb_divider color=&#8221;#12876f&#8221; divider_weight=&#8221;5px&#8221; _builder_version=&#8221;4.25.0&#8243; _module_preset=&#8221;default&#8221; min_height=&#8221;6px&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_divider][\/et_pb_column][\/et_pb_row][et_pb_row _builder_version=&#8221;4.27.4&#8243; background_color=&#8221;#ffffff&#8221; width=&#8221;100%&#8221; max_width=&#8221;1090px&#8221; min_height=&#8221;41px&#8221; custom_margin=&#8221;10px||10px||false|false&#8221; custom_padding=&#8221;0px||0px||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;4_4&#8243; admin_label=&#8221;Coluna&#8221; _builder_version=&#8221;4.27.4&#8243; custom_padding=&#8221;0px||0px||false|false&#8221; custom_padding_tablet=&#8221;0px||&#8221; custom_padding_phone=&#8221;&#8221; custom_padding_last_edited=&#8221;on|desktop&#8221; global_colors_info=&#8221;{}&#8221; padding_tablet=&#8221;0px||&#8221; padding_last_edited=&#8221;on|tablet&#8221; custom_padding__hover=&#8221;|||&#8221; padding_phone=&#8221;0px||&#8221;][et_pb_text _builder_version=&#8221;4.27.4&#8243; text_font=&#8221;||||||||&#8221; text_font_size=&#8221;20px&#8221; text_line_height=&#8221;2em&#8221; header_font=&#8221;Faustina|600|||||||&#8221; header_text_color=&#8221;#0e7162&#8243; header_font_size=&#8221;60px&#8221; header_line_height=&#8221;1.3em&#8221; header_2_font=&#8221;|700|||||||&#8221; header_2_text_color=&#8221;#0e7162&#8243; header_2_font_size=&#8221;30px&#8221; text_orientation=&#8221;center&#8221; module_alignment=&#8221;center&#8221; min_height=&#8221;41px&#8221; custom_margin=&#8221;||0px|0px|false|false&#8221; custom_padding=&#8221;|25px|0px|25px|false|false&#8221; header_font_size_tablet=&#8221;50px&#8221; header_font_size_phone=&#8221;40px&#8221; header_font_size_last_edited=&#8221;on|phone&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<h2 style=\"text-align: left;\">O que estamos aprendendo sobre o gene <em>CLCN4<\/em> <\/h2>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=&#8221;1_2,1_2&#8243; _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; background_color=&#8221;#FFFFFF&#8221; width=&#8221;100%&#8221; min_height=&#8221;376px&#8221; custom_margin=&#8221;0px||0px||false|false&#8221; custom_padding=&#8221;0px|0px|0px||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;1_2&#8243; _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; custom_padding=&#8221;0px||0px||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_text _builder_version=&#8221;4.27.4&#8243; text_font=&#8221;||||||||&#8221; text_font_size=&#8221;16px&#8221; text_line_height=&#8221;2em&#8221; header_font=&#8221;Faustina||||||||&#8221; header_text_color=&#8221;#0e7162&#8243; header_font_size=&#8221;60px&#8221; header_line_height=&#8221;1.3em&#8221; text_orientation=&#8221;justified&#8221; min_height=&#8221;328px&#8221; custom_margin=&#8221;10px|5px|0px|5px|false|true&#8221; custom_padding=&#8221;0px|10px|0px|10px|false|false&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<ul>\n<li>A doen\u00e7a <em>relacionada ao CLCN4<\/em> \u00e9 causada por variantes ou &#8220;altera\u00e7\u00f5es&#8221; no gene <em>CLCN4<\/em>. O gene <em>CLCN4<\/em> fornece instru\u00e7\u00f5es para a produ\u00e7\u00e3o de uma prote\u00edna chamada ClC-4. Acredita-se que essa prote\u00edna tenha pap\u00e9is importantes na <strong>fun\u00e7\u00e3o das c\u00e9lulas cerebrais e nervosas.<\/strong>  <\/li>\n<li><strong>As altera\u00e7\u00f5es no gene <em>CLCN4<\/em> afetam a forma como a prote\u00edna ClC-4 funciona<\/strong> dentro das c\u00e9lulas do corpo do indiv\u00edduo afetado.<\/li>\n<li>A pesquisa confirma que <strong>a ClC-4 trabalha em conjunto com uma &#8220;prote\u00edna parceira&#8221; chamada ClC-3<\/strong> e, se uma n\u00e3o funcionar corretamente, a outra pode tentar compensar.<\/li>\n<li><strong>Novas prote\u00ednas parceiras<\/strong> (chamadas TMEM9A e TMEM9B) tamb\u00e9m foram descobertas recentemente. Elas podem ajudar a controlar como o ClC-4 funciona no c\u00e9rebro e podem ser novos alvos para tratamentos futuros. <\/li>\n<\/ul>\n<p>[\/et_pb_text][\/et_pb_column][et_pb_column type=&#8221;1_2&#8243; _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; custom_padding=&#8221;0px||0px||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_image src=&#8221;https:\/\/cureclcn4.org\/wp-content\/uploads\/2025\/06\/1.png&#8221; title_text=&#8221;DNA&#8221; align=&#8221;center&#8221; _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; max_width=&#8221;75%&#8221; custom_margin=&#8221;0px||||false|false&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_image][\/et_pb_column][\/et_pb_row][et_pb_row _builder_version=&#8221;4.27.4&#8243; background_color=&#8221;#ffffff&#8221; width=&#8221;100%&#8221; max_width=&#8221;1100px&#8221; min_height=&#8221;70px&#8221; height=&#8221;100px&#8221; custom_margin=&#8221;10px||5px||false|false&#8221; custom_padding=&#8221;0px||0px||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;4_4&#8243; _builder_version=&#8221;4.27.4&#8243; custom_padding=&#8221;0px||0px||false|false&#8221; custom_padding_tablet=&#8221;0px||&#8221; custom_padding_phone=&#8221;&#8221; custom_padding_last_edited=&#8221;on|desktop&#8221; global_colors_info=&#8221;{}&#8221; padding_tablet=&#8221;0px||&#8221; padding_last_edited=&#8221;on|tablet&#8221; custom_padding__hover=&#8221;|||&#8221; padding_phone=&#8221;0px||&#8221;][et_pb_text _builder_version=&#8221;4.27.4&#8243; text_font=&#8221;||||||||&#8221; text_font_size=&#8221;20px&#8221; text_line_height=&#8221;2em&#8221; header_font=&#8221;Faustina|600|||||||&#8221; header_text_color=&#8221;#0e7162&#8243; header_font_size=&#8221;60px&#8221; header_line_height=&#8221;1.3em&#8221; header_2_font=&#8221;|700|||||||&#8221; header_2_text_color=&#8221;#0e7162&#8243; header_2_font_size=&#8221;30px&#8221; text_orientation=&#8221;center&#8221; width=&#8221;92.2%&#8221; min_height=&#8221;87px&#8221; height=&#8221;100px&#8221; max_height=&#8221;1000px&#8221; custom_margin=&#8221;0px|19px|0px|19px|false|false&#8221; custom_padding=&#8221;0px||0px||false|false&#8221; header_font_size_tablet=&#8221;50px&#8221; header_font_size_phone=&#8221;40px&#8221; header_font_size_last_edited=&#8221;on|phone&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<h2 style=\"text-align: left;\">Modelos animais podem nos ajudar a entender melhor a condi\u00e7\u00e3o <em>relacionada ao CLCN4<\/em><\/h2>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=&#8221;1_2,1_2&#8243; _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; background_color=&#8221;#FFFFFF&#8221; width=&#8221;100%&#8221; min_height=&#8221;346px&#8221; custom_margin=&#8221;0px||0px||false|false&#8221; custom_padding=&#8221;0px|0px|0px||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;1_2&#8243; _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; custom_padding=&#8221;0px||0px||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_text _builder_version=&#8221;4.27.4&#8243; text_font=&#8221;||||||||&#8221; text_font_size=&#8221;16px&#8221; text_line_height=&#8221;2em&#8221; header_font=&#8221;Faustina||||||||&#8221; header_text_color=&#8221;#0e7162&#8243; header_font_size=&#8221;60px&#8221; header_line_height=&#8221;1.3em&#8221; text_orientation=&#8221;justified&#8221; min_height=&#8221;343px&#8221; custom_margin=&#8221;5px|5px|0px|5px|false|true&#8221; custom_padding=&#8221;0px|10px|0px|10px|false|false&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<ul style=\"font-weight: 400;\">\n<li><span>Os <strong>modelos de<em>ratos Clcn4<\/em> <\/strong>recentemente desenvolvidos est\u00e3o apresentando sintomas semelhantes aos observados em alguns pacientes, como <strong>hiperatividade, dificuldades de aten\u00e7\u00e3o e problemas de coordena\u00e7\u00e3o<\/strong>. Os resultados iniciais tamb\u00e9m indicam alguns problemas com o aprendizado e a mem\u00f3ria, mas \u00e9 preciso trabalhar mais para confirmar isso.   <\/span><\/li>\n<li><span>Os cientistas tamb\u00e9m est\u00e3o tentando desenvolver um <strong>modelo de peixe-zebra<em>CLCN4 <\/em><\/strong> para entender melhor a condi\u00e7\u00e3o <em>relacionada ao CLCN4<\/em>. Os peixes-zebra s\u00e3o transparentes, desenvolvem-se rapidamente e s\u00e3o mais baratos de manter do que os roedores, o que poderia ajudar os pesquisadores a examinar centenas de medicamentos para encontrar aqueles que podem ajudar. Esses animais j\u00e1 est\u00e3o ajudando a encontrar tratamentos para doen\u00e7as semelhantes, como as s\u00edndromes de Batten e Dravet.  <\/span><\/li>\n<\/ul>\n<p>[\/et_pb_text][\/et_pb_column][et_pb_column type=&#8221;1_2&#8243; _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; custom_padding=&#8221;0px||0px||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_image src=&#8221;https:\/\/cureclcn4.org\/wp-content\/uploads\/2025\/06\/2.png&#8221; _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; title_text=&#8221;Modelo animal&#8221; max_width=&#8221;75%&#8221; align=&#8221;center&#8221; hover_enabled=&#8221;0&#8243; sticky_enabled=&#8221;0&#8243;][\/et_pb_image][\/et_pb_column][\/et_pb_row][et_pb_row _builder_version=&#8221;4.27.4&#8243; background_color=&#8221;#ffffff&#8221; width=&#8221;100%&#8221; max_width=&#8221;1100px&#8221; min_height=&#8221;38px&#8221; custom_margin=&#8221;10px|auto|10px|auto|false|false&#8221; custom_padding=&#8221;0px||0px||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;4_4&#8243; _builder_version=&#8221;4.27.4&#8243; custom_padding=&#8221;0px||0px||false|false&#8221; custom_padding_tablet=&#8221;0px||&#8221; custom_padding_phone=&#8221;&#8221; custom_padding_last_edited=&#8221;on|desktop&#8221; global_colors_info=&#8221;{}&#8221; padding_tablet=&#8221;0px||&#8221; padding_last_edited=&#8221;on|tablet&#8221; custom_padding__hover=&#8221;|||&#8221; padding_phone=&#8221;0px||&#8221;][et_pb_text _builder_version=&#8221;4.27.4&#8243; text_font=&#8221;||||||||&#8221; text_font_size=&#8221;20px&#8221; text_line_height=&#8221;2em&#8221; header_font=&#8221;Faustina|600|||||||&#8221; header_text_color=&#8221;#0e7162&#8243; header_font_size=&#8221;60px&#8221; header_line_height=&#8221;1.3em&#8221; header_2_font=&#8221;|700|||||||&#8221; header_2_text_color=&#8221;#0e7162&#8243; header_2_font_size=&#8221;30px&#8221; text_orientation=&#8221;center&#8221; width=&#8221;92.2%&#8221; min_height=&#8221;40px&#8221; custom_margin=&#8221;0px|10px|0px|10px|false|false&#8221; custom_padding=&#8221;0px||0px||false|false&#8221; header_font_size_tablet=&#8221;50px&#8221; header_font_size_phone=&#8221;40px&#8221; header_font_size_last_edited=&#8221;on|phone&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<h2 style=\"text-align: left;\">Estudo das variantes <em>CLCN4<\/em> <\/h2>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=&#8221;1_2,1_2&#8243; _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; background_color=&#8221;#FFFFFF&#8221; width=&#8221;100%&#8221; min_height=&#8221;202px&#8221; custom_margin=&#8221;0px||0px||false|false&#8221; custom_padding=&#8221;0px||0px||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;1_2&#8243; _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; custom_padding=&#8221;0px||0px||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_text _builder_version=&#8221;4.27.4&#8243; text_font=&#8221;||||||||&#8221; text_font_size=&#8221;16px&#8221; text_line_height=&#8221;2em&#8221; header_font=&#8221;Faustina||||||||&#8221; header_text_color=&#8221;#0e7162&#8243; header_font_size=&#8221;60px&#8221; header_line_height=&#8221;1.3em&#8221; text_orientation=&#8221;justified&#8221; custom_margin=&#8221;0px|5px|0px|5px|false|true&#8221; custom_padding=&#8221;0px|10px|0px|10px|false|true&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<ul>\n<li>Nem todas as altera\u00e7\u00f5es gen\u00e9ticas (variantes) no gene <em>CLCN4<\/em> levam \u00e0 doen\u00e7a <em>relacionada ao CLCN4<\/em>. H\u00e1 muitos indiv\u00edduos saud\u00e1veis n\u00e3o afetados com variantes no gene <em>CLCN4<\/em> cuja prote\u00edna ClC-4 funciona muito bem. <\/li>\n<li>O trabalho est\u00e1 em andamento para <strong>entender quais variantes t\u00eam maior probabilidade de causar sintomas<\/strong> e como exatamente elas podem afetar a fun\u00e7\u00e3o cerebral.<\/li>\n<li>Esse trabalho \u00e9 importante para ajudar a <strong>classificar novas variantes<\/strong>, <strong>apoiar o diagn\u00f3stico<\/strong> e <strong>orientar<\/strong> as decis\u00f5es <strong>de tratamento<\/strong> no futuro.<\/li>\n<\/ul>\n<p>[\/et_pb_text][\/et_pb_column][et_pb_column type=&#8221;1_2&#8243; _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; custom_padding=&#8221;0px||0px||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_image src=&#8221;https:\/\/cureclcn4.org\/wp-content\/uploads\/2025\/06\/3.png&#8221; title_text=&#8221;Pesquisador&#8221; align=&#8221;center&#8221; _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; max_width=&#8221;75%&#8221; global_colors_info=&#8221;{}&#8221;][\/et_pb_image][\/et_pb_column][\/et_pb_row][et_pb_row _builder_version=&#8221;4.27.4&#8243; background_color=&#8221;#ffffff&#8221; width=&#8221;100%&#8221; max_width=&#8221;1100px&#8221; min_height=&#8221;31px&#8221; custom_margin=&#8221;10px||10px||false|false&#8221; custom_padding=&#8221;0px||0px||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;4_4&#8243; _builder_version=&#8221;4.27.4&#8243; custom_padding=&#8221;0px||0px||false|false&#8221; custom_padding_tablet=&#8221;0px||&#8221; custom_padding_phone=&#8221;&#8221; custom_padding_last_edited=&#8221;on|desktop&#8221; global_colors_info=&#8221;{}&#8221; padding_tablet=&#8221;0px||&#8221; padding_last_edited=&#8221;on|tablet&#8221; custom_padding__hover=&#8221;|||&#8221; padding_phone=&#8221;0px||&#8221;][et_pb_text _builder_version=&#8221;4.27.4&#8243; text_font=&#8221;||||||||&#8221; text_font_size=&#8221;20px&#8221; text_line_height=&#8221;2em&#8221; header_font=&#8221;Faustina|600|||||||&#8221; header_text_color=&#8221;#0e7162&#8243; header_font_size=&#8221;60px&#8221; header_line_height=&#8221;1.3em&#8221; header_2_font=&#8221;|700|||||||&#8221; header_2_text_color=&#8221;#0e7162&#8243; header_2_font_size=&#8221;30px&#8221; text_orientation=&#8221;center&#8221; width=&#8221;92.2%&#8221; min_height=&#8221;26px&#8221; custom_margin=&#8221;0px|19px|0px|19px|false|false&#8221; custom_padding=&#8221;0px||0px||false|false&#8221; header_font_size_tablet=&#8221;50px&#8221; header_font_size_phone=&#8221;40px&#8221; header_font_size_last_edited=&#8221;on|phone&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<h2 style=\"text-align: left;\">O lado humano: mais do que um diagn\u00f3stico<\/h2>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=&#8221;1_2,1_2&#8243; _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; background_color=&#8221;#FFFFFF&#8221; width=&#8221;100%&#8221; min_height=&#8221;259px&#8221; custom_margin=&#8221;10px|auto|10px|auto|false|false&#8221; custom_padding=&#8221;0px|0px|10px||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;1_2&#8243; _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; custom_padding=&#8221;0px||0px||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_text _builder_version=&#8221;4.27.4&#8243; text_font=&#8221;||||||||&#8221; text_font_size=&#8221;16px&#8221; text_line_height=&#8221;2em&#8221; header_font=&#8221;Faustina||||||||&#8221; header_text_color=&#8221;#0e7162&#8243; header_font_size=&#8221;60px&#8221; header_line_height=&#8221;1.3em&#8221; text_orientation=&#8221;justified&#8221; min_height=&#8221;239px&#8221; custom_margin=&#8221;10px|5px|0px|5px|false|true&#8221; custom_padding=&#8221;0px|10px|0px|10px|false|false&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<ul>\n<li>A condi\u00e7\u00e3o <em>relacionada ao CLCN4<\/em> n\u00e3o \u00e9 apenas uma condi\u00e7\u00e3o, mas um grupo de experi\u00eancias relacionadas. \u00c9 uma condi\u00e7\u00e3o de neurodesenvolvimento com uma <strong>ampla gama de sintomas<\/strong>, incluindo dificuldades de aprendizado, desafios de comunica\u00e7\u00e3o, epilepsia e diferen\u00e7as de movimento ou comportamento. <\/li>\n<li>A <strong>gravidade e as caracter\u00edsticas espec\u00edficas podem variar significativamente<\/strong>, mesmo entre indiv\u00edduos da mesma fam\u00edlia.<\/li>\n<li>O que todos os indiv\u00edduos com condi\u00e7\u00f5es <em>relacionadas ao CLCN4<\/em> t\u00eam em comum \u00e9 a <strong>extraordin\u00e1ria resili\u00eancia<\/strong>, <strong>empatia<\/strong> e a capacidade de levar <strong>amor e conex\u00e3o<\/strong> \u00e0s pessoas ao seu redor<\/li>\n<\/ul>\n<p>[\/et_pb_text][\/et_pb_column][et_pb_column type=&#8221;1_2&#8243; _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; custom_padding=&#8221;0px||0px||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_image src=&#8221;https:\/\/cureclcn4.org\/wp-content\/uploads\/2025\/06\/4.png&#8221; title_text=&#8221;Crian\u00e7a feliz&#8221; _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; max_width=&#8221;75%&#8221; custom_margin=&#8221;0px|0px|0px|0px|false|false&#8221; hover_enabled=&#8221;0&#8243; global_colors_info=&#8221;{}&#8221; align=&#8221;center&#8221; sticky_enabled=&#8221;0&#8243; module_alignment=&#8221;center&#8221;][\/et_pb_image][\/et_pb_column][\/et_pb_row][et_pb_row _builder_version=&#8221;4.27.4&#8243; background_color=&#8221;#ffffff&#8221; width=&#8221;100%&#8221; max_width=&#8221;1100px&#8221; min_height=&#8221;46px&#8221; custom_margin=&#8221;10px||10px||false|false&#8221; custom_padding=&#8221;0px||0px||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;4_4&#8243; _builder_version=&#8221;4.27.4&#8243; custom_padding=&#8221;0px||0px||false|false&#8221; custom_padding_tablet=&#8221;0px||&#8221; custom_padding_phone=&#8221;&#8221; custom_padding_last_edited=&#8221;on|desktop&#8221; global_colors_info=&#8221;{}&#8221; padding_tablet=&#8221;0px||&#8221; padding_last_edited=&#8221;on|tablet&#8221; custom_padding__hover=&#8221;|||&#8221; padding_phone=&#8221;0px||&#8221;][et_pb_text _builder_version=&#8221;4.27.4&#8243; text_font=&#8221;||||||||&#8221; text_font_size=&#8221;20px&#8221; text_line_height=&#8221;2em&#8221; header_font=&#8221;Faustina|600|||||||&#8221; header_text_color=&#8221;#0e7162&#8243; header_font_size=&#8221;60px&#8221; header_line_height=&#8221;1.3em&#8221; header_2_font=&#8221;|700|||||||&#8221; header_2_text_color=&#8221;#0e7162&#8243; header_2_font_size=&#8221;30px&#8221; text_orientation=&#8221;center&#8221; width=&#8221;92.2%&#8221; min_height=&#8221;26px&#8221; custom_margin=&#8221;0px|19px|0px|19px|false|false&#8221; custom_padding=&#8221;0px||0px||false|false&#8221; header_font_size_tablet=&#8221;50px&#8221; header_font_size_phone=&#8221;40px&#8221; header_font_size_last_edited=&#8221;on|phone&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<h2 style=\"text-align: left;\">O potencial das terapias gen\u00e9ticas<\/h2>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=&#8221;1_2,1_2&#8243; _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; background_color=&#8221;#FFFFFF&#8221; width=&#8221;100%&#8221; min_height=&#8221;282px&#8221; custom_margin=&#8221;0px|auto|0px|auto|false|false&#8221; custom_padding=&#8221;0px|0px|0px||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;1_2&#8243; _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; custom_padding=&#8221;0px||0px||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_text _builder_version=&#8221;4.27.4&#8243; text_font=&#8221;||||||||&#8221; text_font_size=&#8221;16px&#8221; text_line_height=&#8221;2em&#8221; header_font=&#8221;Faustina||||||||&#8221; header_text_color=&#8221;#0e7162&#8243; header_font_size=&#8221;60px&#8221; header_line_height=&#8221;1.3em&#8221; text_orientation=&#8221;justified&#8221; min_height=&#8221;224px&#8221; custom_margin=&#8221;0px|5px|0px|5px|false|true&#8221; custom_padding=&#8221;|10px||10px|false|false&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<ul>\n<li>Um dos principais focos da confer\u00eancia foi o <strong>potencial das terapias gen\u00e9ticas<\/strong>, tratamentos projetados para atingir erros espec\u00edficos nos genes de uma pessoa.<\/li>\n<li>Novas ferramentas agora podem analisar altera\u00e7\u00f5es gen\u00e9ticas individuais e identificar quais podem responder a uma terapia, como os oligonucleot\u00eddeos antisense (ASOs), que j\u00e1 est\u00e3o ajudando pessoas com outras doen\u00e7as raras.<\/li>\n<li>Tamb\u00e9m est\u00e1 sendo feito um trabalho com <strong>c\u00e9lulas-tronco derivadas de pacientes (iPSCs)<\/strong> para criar c\u00e9lulas nervosas em laborat\u00f3rio e testar tratamentos diretamente nelas.<\/li>\n<li>Essas terapias ainda est\u00e3o nos est\u00e1gios iniciais para a doen\u00e7a <em>relacionada ao CLCN4<\/em>, mas a tecnologia est\u00e1 avan\u00e7ando rapidamente, e v\u00e1rias equipes est\u00e3o trabalhando para entender se e como essas terapias podem ser aplicadas \u00e0 doen\u00e7a <em>relacionada ao CLCN4<\/em>.<\/li>\n<\/ul>\n<p>[\/et_pb_text][\/et_pb_column][et_pb_column type=&#8221;1_2&#8243; 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global_colors_info=&#8221;{}&#8221;]<\/p>\n<h2 style=\"text-align: left;\">Melhor atendimento e suporte cl\u00ednico<\/h2>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=&#8221;1_2,1_2&#8243; _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; background_color=&#8221;#FFFFFF&#8221; width=&#8221;100%&#8221; min_height=&#8221;240px&#8221; custom_margin=&#8221;0px|auto|0px|auto|false|false&#8221; custom_padding=&#8221;|0px|5px||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;1_2&#8243; _builder_version=&#8221;4.24.2&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_text _builder_version=&#8221;4.27.4&#8243; text_font=&#8221;||||||||&#8221; text_font_size=&#8221;16px&#8221; text_line_height=&#8221;2em&#8221; header_font=&#8221;Faustina||||||||&#8221; header_text_color=&#8221;#0e7162&#8243; header_font_size=&#8221;60px&#8221; header_line_height=&#8221;1.3em&#8221; text_orientation=&#8221;justified&#8221; min_height=&#8221;214px&#8221; custom_margin=&#8221;|5px|17px|5px|false|true&#8221; custom_padding=&#8221;|10px||10px|false|false&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<ul>\n<li>As palestras cl\u00ednicas destacaram como outras doen\u00e7as raras se beneficiaram de <strong>cl\u00ednicas especializadas<\/strong>, cuidados coordenados e redes internacionais de sa\u00fade.<\/li>\n<li>O Cure CLCN4 est\u00e1 agora explorando o que seria necess\u00e1rio para estabelecer uma <strong>cl\u00ednica ou via de atendimento<em>espec\u00edfica para CLCN4<\/em>. <\/strong> <\/li>\n<li>Uma etapa fundamental para isso \u00e9 <strong>estabelecer colabora\u00e7\u00f5es<\/strong> entre m\u00e9dicos, pesquisadores e fam\u00edlias.<\/li>\n<li>Nosso objetivo \u00e9 garantir que as fam\u00edlias tenham acesso a <strong>cuidados especializados<\/strong>, informa\u00e7\u00f5es e <strong>orienta\u00e7\u00e3o<\/strong> e <strong>suporte coordenado<\/strong>, e n\u00e3o apenas a resultados gen\u00e9ticos.<\/li>\n<\/ul>\n<p>[\/et_pb_text][\/et_pb_column][et_pb_column type=&#8221;1_2&#8243; 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global_colors_info=&#8221;{}&#8221; padding_tablet=&#8221;0px||&#8221; padding_last_edited=&#8221;on|tablet&#8221; custom_padding__hover=&#8221;|||&#8221; padding_phone=&#8221;0px||&#8221;][et_pb_text _builder_version=&#8221;4.27.4&#8243; text_font=&#8221;||||||||&#8221; text_font_size=&#8221;20px&#8221; text_line_height=&#8221;2em&#8221; header_font=&#8221;Faustina|600|||||||&#8221; header_text_color=&#8221;#0e7162&#8243; header_font_size=&#8221;60px&#8221; header_line_height=&#8221;1.3em&#8221; header_2_font=&#8221;|700|||||||&#8221; header_2_text_color=&#8221;#0e7162&#8243; header_2_font_size=&#8221;30px&#8221; text_orientation=&#8221;center&#8221; width=&#8221;92.2%&#8221; min_height=&#8221;26px&#8221; custom_margin=&#8221;0px|19px|0px|19px|false|false&#8221; custom_padding=&#8221;0px||||false|false&#8221; header_font_size_tablet=&#8221;50px&#8221; header_font_size_phone=&#8221;40px&#8221; header_font_size_last_edited=&#8221;on|phone&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<h2 style=\"text-align: left;\">O que vem a seguir<\/h2>\n<p>[\/et_pb_text][\/et_pb_column][\/et_pb_row][et_pb_row column_structure=&#8221;1_2,1_2&#8243; _builder_version=&#8221;4.27.4&#8243; _module_preset=&#8221;default&#8221; background_color=&#8221;#FFFFFF&#8221; width=&#8221;100%&#8221; min_height=&#8221;291px&#8221; custom_margin=&#8221;0px|auto|25px|auto|false|false&#8221; custom_padding=&#8221;0px|0px|0px||false|false&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_column type=&#8221;1_2&#8243; _builder_version=&#8221;4.24.2&#8243; _module_preset=&#8221;default&#8221; global_colors_info=&#8221;{}&#8221;][et_pb_text _builder_version=&#8221;4.27.4&#8243; text_font=&#8221;||||||||&#8221; text_font_size=&#8221;16px&#8221; text_line_height=&#8221;2em&#8221; header_font=&#8221;Faustina||||||||&#8221; header_text_color=&#8221;#0e7162&#8243; header_font_size=&#8221;60px&#8221; header_line_height=&#8221;1.3em&#8221; text_orientation=&#8221;justified&#8221; min_height=&#8221;239px&#8221; custom_margin=&#8221;0px|5px|0px|5px|false|true&#8221; custom_padding=&#8221;|10px||10px|false|false&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<ul>\n<li>Os pesquisadores planejam realizar mais testes nos modelos de ratos <em>Clcn4<\/em>, criar outros modelos de condi\u00e7\u00f5es <em>relacionadas ao CLCN4<\/em>, incluindo modelos animais e celulares, e explorar terapias baseadas em genes.<\/li>\n<li>O Cure CLCN4 est\u00e1 trabalhando para se conectar com redes europeias e do Reino Unido para melhorar o atendimento e os servi\u00e7os.<\/li>\n<li>Continuaremos a promover o acesso a ferramentas de pesquisa, a apoiar a colabora\u00e7\u00e3o entre cientistas, m\u00e9dicos e familiares e a aumentar o <a href=\"https:\/\/cureclcn4.org\/patient-registry\/\">registro de pacientes<\/a> hospedado pelo Simons Searchlight, que desempenha um papel fundamental no avan\u00e7o da pesquisa.<\/li>\n<\/ul>\n<p>[\/et_pb_text][\/et_pb_column][et_pb_column type=&#8221;1_2&#8243; 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header_5_font=&#8221;||||||||&#8221; header_6_font=&#8221;||||||||&#8221; background_layout=&#8221;dark&#8221; max_width=&#8221;600px&#8221; custom_padding=&#8221;|10px||10px|false|true&#8221; header_2_font_size_tablet=&#8221;32px&#8221; header_2_font_size_phone=&#8221;22px&#8221; header_2_font_size_last_edited=&#8221;on|desktop&#8221; locked=&#8221;off&#8221; global_colors_info=&#8221;{}&#8221;]<\/p>\n<h2>Patrocinadores corporativos da Funda\u00e7\u00e3o<\/h2>\n<p>[\/et_pb_text][\/et_pb_column][et_pb_column type=&#8221;1_3&#8243; _builder_version=&#8221;4.16&#8243; custom_padding=&#8221;|||&#8221; global_colors_info=&#8221;{}&#8221; custom_padding__hover=&#8221;|||&#8221;][et_pb_button button_url=&#8221;https:\/\/cureclcn4.org\/contact\/&#8221; button_text=&#8221;Torne-se um patrocinador&#8221; button_alignment=&#8221;center&#8221; _builder_version=&#8221;4.24.2&#8243; custom_button=&#8221;on&#8221; button_text_size=&#8221;14px&#8221; button_text_color=&#8221;#ffffff&#8221; button_bg_color=&#8221;#26c699&#8243; 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Os t\u00f3picos inclu\u00edram novas percep\u00e7\u00f5es sobre a biologia da doen\u00e7a relacionada ao CLCN4, avan\u00e7os nos modelos animais do CLCN4, o potencial de terapias gen\u00e9ticas e as etapas para melhorar o atendimento cl\u00ednico. Leia o resumo completo em linguagem simples para as fam\u00edlias aqui.  <\/p>\n","protected":false},"author":2,"featured_media":6689,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_et_pb_use_builder":"on","_et_pb_old_content":"","_et_gb_content_width":"","footnotes":""},"categories":[53],"tags":[],"class_list":["post-6792","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-eventos-pt-br"],"_links":{"self":[{"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/posts\/6792","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/comments?post=6792"}],"version-history":[{"count":2,"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/posts\/6792\/revisions"}],"predecessor-version":[{"id":6794,"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/posts\/6792\/revisions\/6794"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/media\/6689"}],"wp:attachment":[{"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/media?parent=6792"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/categories?post=6792"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/cureclcn4.org\/pt-br\/wp-json\/wp\/v2\/tags?post=6792"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}