{"id":13229,"date":"2021-01-31T22:13:56","date_gmt":"2021-02-01T03:13:56","guid":{"rendered":"https:\/\/nebula.org\/blog\/dia-da-doenca-rara\/"},"modified":"2021-02-20T20:32:26","modified_gmt":"2021-02-21T01:32:26","slug":"dia-da-doenca-rara","status":"publish","type":"post","link":"https:\/\/nebula.org\/blog\/pt-br\/dia-da-doenca-rara\/","title":{"rendered":"Dia Mundial das Doen\u00e7as Raras: o que significa ser raro"},"content":{"rendered":"\n<p><em>Editado por Christina Swords, Ph.D.<\/em><\/p>\n\n<h2 class=\"wp-block-heading\" id=\"h-for-rare-disease-patients-it-s-the-not-knowing-that-hits-the-hardest\">Para pacientes com doen\u00e7as raras, n\u00e3o saber \u00e9 o que mais afeta.<\/h2>\n\n<p><\/p>\n\n<p>Como a doen\u00e7a mudar\u00e1 a forma como o corpo funciona? Quais medicamentos ser\u00e3o usados quando apenas 5% das doen\u00e7as raras tiverem um tratamento aprovado pela FDA? Como eles v\u00e3o se adaptar a viver com uma doen\u00e7a t\u00e3o \u00fanica, que apenas 50% das doen\u00e7as raras t\u00eam um grupo de apoio dedicado? Enquanto eles navegam em uma consulta ap\u00f3s a outra, as perguntas nunca param &#8211; e a mais alta \u00e9 &#8220;por que isso est\u00e1 acontecendo comigo?&#8221;<br\/><\/p>\n\n<p>Hoje, o mundo concentra sua aten\u00e7\u00e3o nesses pacientes durante o Dia Mundial das Doen\u00e7as Raras. O Dia Mundial das Doen\u00e7as Raras ocorre no \u00faltimo dia de fevereiro de cada ano e \u00e9 destaque nas redes sociais, confer\u00eancias legislativas, eventos comunit\u00e1rios e visa aumentar a consci\u00eancia p\u00fablica sobre a vida das pessoas com doen\u00e7as raras e os desafios que enfrentam. Neste dia, pacientes, profissionais m\u00e9dicos, cuidadores, defensores da sa\u00fade e legisladores se re\u00fanem para discutir novas maneiras de melhorar o atendimento e a qualidade de vida dos pacientes e suas fam\u00edlias.<br\/><\/p>\n\n<p><strong><a href=\"https:\/\/nebula.org\/whole-genome-sequencing\/\">Nebula Genomics<\/a><\/strong> iniciou colabora\u00e7\u00f5es com v\u00e1rias organiza\u00e7\u00f5es de doen\u00e7as raras para ajudar a acelerar avan\u00e7os m\u00e9dicos.<br\/><\/p>\n\n<p>A comunidade cient\u00edfica come\u00e7ou a coordenar o projeto intermin\u00e1vel que est\u00e1 analisando genomas humanos para a causa exata da doen\u00e7a. Nos \u00faltimos dez anos, o custo de sequenciamento de um genoma humano caiu de US $ 10.000 para US $ 1.000, convidando multid\u00f5es de comunidades de pacientes a oferecer seus dados gen\u00e9ticos a pesquisadores na esperan\u00e7a de criar modelos intrincados de doen\u00e7as que possam ajudar empresas farmac\u00eauticas e de biotecnologia a criar melhores tratamentos .<br\/><\/p>\n\n<p>Para entender essas doen\u00e7as: temos que entender cada letra de sua composi\u00e7\u00e3o gen\u00e9tica. Precisamos observar a doen\u00e7a em pacientes de todos os sexos, idades e etnias ao longo do tempo. Precisamos dissolver todas as barreiras que impedem os indiv\u00edduos de se manifestar e contribuir com seus dados para a pesquisa. Essas barreiras incluem acesso, prote\u00e7\u00e3o da privacidade do paciente, atualiza\u00e7\u00f5es cont\u00ednuas sobre descobertas da comunidade cient\u00edfica para a comunidade de pacientes e transpar\u00eancia incompar\u00e1vel para dar aos pacientes o respeito e a confian\u00e7a que eles merecem.<br\/><\/p>\n\n<p>Em \u00faltima an\u00e1lise, o Nebula busca criar uma maneira simples, conveniente e segura de compartilhar dados gen\u00f4micos pessoais com pesquisadores m\u00e9dicos enquanto compensa os pacientes por suas contribui\u00e7\u00f5es. Ao longo do pr\u00f3ximo ano, estaremos trabalhando com organiza\u00e7\u00f5es como<strong><a href=\"http:\/\/www.globalgenes.org\"> Genes Globais<\/a><\/strong> ,<strong><a href=\"http:\/\/www.rareadvocacymovement.org\"> The Rare Advocacy Movement<\/a><\/strong><a href=\"http:\/\/www.rareadvocacymovement.org\"> ,<\/a><a href=\"http:\/\/www.themighty.com\"> <\/a><strong><a href=\"http:\/\/www.themighty.com\">O poderoso<\/a><\/strong> , e<strong><a href=\"http:\/\/www.inspire.com\"> Inspirar<\/a><\/strong><a href=\"http:\/\/www.inspire.com\"> <\/a>para obter feedback sobre nossos servi\u00e7os de sequenciamento e a experi\u00eancia geral dos pacientes que usam nossa plataforma.<br\/><\/p>\n\n<p>Quer voc\u00ea seja uma das centenas de milhares de pessoas que foram diagnosticadas com uma doen\u00e7a rara, um membro de um dos grupos de pacientes com doen\u00e7as raras ou apenas algu\u00e9m que quer ajudar a mudar vidas &#8211; voc\u00ea tamb\u00e9m pode desempenhar um papel crucial neste dia importante.<\/p>\n\n<p>Para obter mais informa\u00e7\u00f5es sobre as iniciativas de doen\u00e7as raras da nebulosa, voc\u00ea pode ler nosso comunicado \u00e0 imprensa<a href=\"https:\/\/www.businesswire.com\/news\/home\/20190228005064\/en\/Nebula-Genomics-Recognizes-World-Rare-Disease-Day\" target=\"_blank\" rel=\"noreferrer noopener\" aria-label=\"here (opens in a new tab)\"> Aqui<\/a> ou explore os links abaixo para saber mais sobre o que significa ser raro.<br\/><\/p>\n\n<h4 class=\"wp-block-heading\" id=\"h-win-a-free-whole-genome-sequencing-kit-by-entering-our-giveaways-below\">Ganhe um kit de sequenciamento de genoma inteiro gratuito ao participar de nossos brindes abaixo:<\/h4>\n\n<p><a href=\"https:\/\/globalgenes.org\/nebula-giveaway\/%20\">Global Genes &amp; Nebula Genomics Sequencing Giveaway<\/a><\/p>\n\n<p><a href=\"https:\/\/www.rareadvocacymovement.com\/genome-sequencing-giveaway\">The Rare Advocacy Movement &amp; Nebula Genomics Sequencing Giveaway<\/a><\/p>\n\n<p>The Mighty &amp; Nebula Genomics Sequencing Giveaway<\/p>\n\n<p><\/p>\n\n<p><strong>RECURSOS<\/strong><\/p>\n\n<p>Descubra os fatos sobre doen\u00e7as raras em<a href=\"http:\/\/www.globalgenes.org\"><strong> Global Genes.<\/strong><\/a><\/p>\n\n<p>Aprender mais sobre<a href=\"http:\/\/www.therareadvocacymovement.com\"><strong> The Rare Advocacy Movement.<\/strong><\/a><\/p>\n\n<p>Compartilhe sua hist\u00f3ria de doen\u00e7a rara com<strong><a href=\"http:\/\/www.themighty.com\"><strong> O poderoso.<\/strong><\/a><\/strong><\/p>\n\n<p>Encontre sua comunidade de doen\u00e7as raras em<strong><a href=\"http:\/\/www.inspire.com\"><strong> Inspire.com.<\/strong><\/a><\/strong><br\/><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Hoje, o mundo concentra sua aten\u00e7\u00e3o nesses pacientes durante o Dia Mundial das Doen\u00e7as Raras. O Dia Mundial das Doen\u00e7as Raras ocorre no \u00faltimo dia de fevereiro de cada ano e \u00e9 destaque nas redes sociais, confer\u00eancias legislativas, eventos comunit\u00e1rios e visa aumentar a consci\u00eancia p\u00fablica sobre a vida das pessoas com doen\u00e7as raras e os desafios que enfrentam. Neste dia, pacientes, profissionais m\u00e9dicos, cuidadores, defensores da sa\u00fade e legisladores se re\u00fanem para discutir novas maneiras de melhorar o atendimento e a qualidade de vida dos pacientes e suas fam\u00edlias.<\/p>\n","protected":false},"author":18,"featured_media":13232,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"om_disable_all_campaigns":false,"site-sidebar-layout":"default","site-content-layout":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"default","adv-header-id-meta":"","stick-header-meta":"default","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","_FSMCFIC_featured_image_caption":"","_FSMCFIC_featured_image_nocaption":"","_FSMCFIC_featured_image_hide":"","footnotes":""},"categories":[5002],"tags":[],"class_list":["post-13229","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-science-pt-br"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v20.13 - 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