{"id":10841,"date":"2020-02-06T22:18:46","date_gmt":"2020-02-07T01:18:46","guid":{"rendered":"http:\/\/scienceblogs.com.br\/hypercubic\/?p=10841"},"modified":"2020-02-06T22:18:46","modified_gmt":"2020-02-07T01:18:46","slug":"a-dificil-tarefa-de-contar-doencas-raras","status":"publish","type":"post","link":"https:\/\/www.blogs.unicamp.br\/hypercubic\/2020\/02\/a-dificil-tarefa-de-contar-doencas-raras\/","title":{"rendered":"A dif\u00edcil tarefa de contar doen\u00e7as raras"},"content":{"rendered":"<figure id=\"attachment_10842\" aria-describedby=\"caption-attachment-10842\" style=\"width: 1920px\" class=\"wp-caption aligncenter\"><a href=\"http:\/\/scienceblogs.com.br\/hypercubic\/files\/2020\/02\/lab-385348_1920.jpg\" data-rel=\"lightbox-image-0\" data-rl_title=\"\" data-rl_caption=\"\" title=\"\"><img fetchpriority=\"high\" decoding=\"async\" class=\"size-full wp-image-10842\" src=\"http:\/\/scienceblogs.com.br\/hypercubic\/files\/2020\/02\/lab-385348_1920.jpg\" alt=\"Image by felixioncool from Pixabay\" width=\"1920\" height=\"1280\" srcset=\"https:\/\/www.blogs.unicamp.br\/hypercubic\/wp-content\/uploads\/sites\/249\/2020\/02\/lab-385348_1920.jpg 1920w, https:\/\/www.blogs.unicamp.br\/hypercubic\/wp-content\/uploads\/sites\/249\/2020\/02\/lab-385348_1920-300x200.jpg 300w, https:\/\/www.blogs.unicamp.br\/hypercubic\/wp-content\/uploads\/sites\/249\/2020\/02\/lab-385348_1920-1024x683.jpg 1024w, https:\/\/www.blogs.unicamp.br\/hypercubic\/wp-content\/uploads\/sites\/249\/2020\/02\/lab-385348_1920-768x512.jpg 768w, https:\/\/www.blogs.unicamp.br\/hypercubic\/wp-content\/uploads\/sites\/249\/2020\/02\/lab-385348_1920-1536x1024.jpg 1536w, https:\/\/www.blogs.unicamp.br\/hypercubic\/wp-content\/uploads\/sites\/249\/2020\/02\/lab-385348_1920-1080x720.jpg 1080w\" sizes=\"(max-width: 1920px) 100vw, 1920px\" \/><\/a><figcaption id=\"caption-attachment-10842\" class=\"wp-caption-text\">Image by <a href=\"https:\/\/pixabay.com\/users\/felixioncool-324952\/?utm_source=link-attribution&amp;utm_medium=referral&amp;utm_campaign=image&amp;utm_content=385348\">felixioncool<\/a> from <a href=\"https:\/\/pixabay.com\/?utm_source=link-attribution&amp;utm_medium=referral&amp;utm_campaign=image&amp;utm_content=385348\">Pixabay<\/a><\/figcaption><\/figure>\n<h4 style=\"text-align: justify\">Doen\u00e7as raras s\u00e3o, bem, raras. Mas quantas s\u00e3o, exatamente? Esclarecer essa d\u00favida pode evitar diagn\u00f3sticos redundantes e facilitar as pesquisas.<\/h4>\n<p style=\"text-align: justify\">Em diversas \u00e1reas da ci\u00eancia, existem fen\u00f4menos dif\u00edceis de ser estudados por sua raridade. Na F\u00edsica, os neutrinos dificilmente reagem com a mat\u00e9ria comum; na Qu\u00edmica, h\u00e1 elementos t\u00e3o raros e ef\u00eameros que mal foram descritos; na Biologia, muitos especialistas se ocupam com a busca e o estudo de esp\u00e9cies t\u00e3o incomuns que nem t\u00eam nomes cient\u00edficos ou populares. A Medicina, claro, tamb\u00e9m tem suas raridades. Mas diferente das outras \u00e1reas, \u00e9 dif\u00edcil para os m\u00e9dicos separar e quantificar as condi\u00e7\u00f5es mais raras que assolam o corpo humano.<\/p>\n<p style=\"text-align: justify\">O c\u00e2ncer de mama \u00e9 um bom exemplo: embora seja visto como um mal \u00fanico, trata-se na verdade de um leque de doen\u00e7as causadas por diferentes muta\u00e7\u00f5es gen\u00e9ticas combinadas a m\u00faltiplos fatores ambientais. Como isso deveria ser contado: uma doen\u00e7a ou v\u00e1rias? Em termos gen\u00e9ticos, h\u00e1 muta\u00e7\u00f5es que causam apenas uma doen\u00e7a, enquanto outras podem dar origem a diversos males, manifestando-se de forma distinta em cada pessoa. Esses males diversos s\u00e3o doen\u00e7as distintas ou subtipos de uma mesma doen\u00e7a? Na sa\u00fade mental, o problema \u00e9 semelhante, agravado pela sobreposi\u00e7\u00e3o de muitas defini\u00e7\u00f5es diagn\u00f3sticas.<\/p>\n<p style=\"text-align: justify\">No caso das doen\u00e7as raras, o problema se complica pela indefini\u00e7\u00e3o em torno do que \u00e9 raro. Nos EUA, por exemplo, uma lei de 1983 considera rara a doen\u00e7a que afeta menos de 200 mil pessoas. Na Uni\u00e3o Europeia, por outro lado, a classifica\u00e7\u00e3o \u00e9 relativa: considera-se raro o mal que afeta menos de 1 a cada 2000 pessoas.<\/p>\n<p style=\"text-align: justify\">Essa dificuldade na identifica\u00e7\u00e3o de doen\u00e7as prejudica bastante os portadores das condi\u00e7\u00f5es mais raras. Quando buscam aux\u00edlio m\u00e9dico, muitas vezes perdem anos (e qualidade de vida) com diagn\u00f3sticos e tratamentos equivocados. \u00c0s vezes at\u00e9 o grau de raridade varia. Muitos m\u00e9dicos podem nunca ter ouvido falar de algo como a <a href=\"https:\/\/pt.wikipedia.org\/wiki\/Doen\u00e7a_de_Tay-Sachs\">doen\u00e7a de Tay-Sachs<\/a>, por exemplo, que \u00e9 bem rara entre a popula\u00e7\u00e3o em geral mas relativamente comum entre os judeus asquenazi.<\/p>\n<p style=\"text-align: justify\">Ent\u00e3o, quantas doen\u00e7as raras existem? Levando em conta todos esses fatores, cientistas dos EUA, Austr\u00e1lia, Fran\u00e7a e Alemanha realizaram um estudo cuja s\u00edntese foi publicada na <em>Nature Reviews Drug Discovery<\/em>. Coordenados por Tudor Oprea, cientista de dados da Universidade do Novo M\u00e9xico (UNM), esses autores estimam que as doen\u00e7as raras atingem at\u00e9 10% da popula\u00e7\u00e3o mundial. Pode parecer pouco, mas com bilh\u00f5es de pessoas, isso significa que h\u00e1 centenas de milh\u00f5es de portadores de mol\u00e9stias raras.<\/p>\n<p style=\"text-align: justify\">N\u00e3o faltam esfor\u00e7os para melhorar a vida dessas pessoas. &#8220;Voc\u00ea tem milhares e milhares de <em>papers<\/em> todos os anos relacionados a doen\u00e7as raras, mas muito poucos se convertem em curas&#8221;, diz Oprea, que \u00e9 professor e chefe de Inform\u00e1tica Translacional na UNM. A busca por tratamentos \u00e9 muitas vezes dificultada pelos desencontros entre os que estudam tais doen\u00e7as e seus poucos portadores.<\/p>\n<p style=\"text-align: justify\">Segundo a pesquisa rec\u00e9m-publicada, estima-se que existem cerca de 7000 doen\u00e7as raras. No entanto, ao analisar um banco de dados conhecido como <a href=\"https:\/\/www.ebi.ac.uk\/ols\/ontologies\/mondo\">Monarch Disease Ontology <\/a>(ou Mondo, sistema mantido pelo Instituto Europeu de Bioinform\u00e1tica), os pesquisadores consideram que esse n\u00famero pode ser at\u00e9 50% maior. Oprea ressalta a import\u00e2ncia do Mondo, um projeto de curadoria assistida por computador, que permite reunir esfor\u00e7os isolados nas pesquisas de doen\u00e7as raras, catalogando-as independente do pa\u00eds ou do tipo de doen\u00e7a.<\/p>\n<p style=\"text-align: justify\">Apesar das numerosas condi\u00e7\u00f5es, as pesquisas e os tratamentos de doen\u00e7as raras ainda precisam de consensos sobre as caracter\u00edsticas f\u00edsicas, gen\u00e9ticas e ambientais de cada mal. Por isso, os pesquisadores recomendam que entidades nacionais e internacionais, como a Organiza\u00e7\u00e3o Mundial da Sa\u00fade, a FDA (Anvisa americana) e a Ag\u00eancia de Medicina Europeia, adotem uma defini\u00e7\u00e3o unificada do que \u00e9 uma doen\u00e7a rara.<\/p>\n<p style=\"text-align: justify\">Por mais dif\u00edcil que pare\u00e7a, tal consenso n\u00e3o \u00e9 imposs\u00edvel. Esfor\u00e7os semelhantes na \u00e1rea de conserva\u00e7\u00e3o ambiental resultaram em defini\u00e7\u00f5es mais claras sobre esp\u00e9cies raras e formas de proteg\u00ea-las. Guardadas as devidas propor\u00e7\u00f5es, talvez seja hora de criar &#8220;parques transnacionais&#8221; de doen\u00e7as raras, facilitando as colabora\u00e7\u00f5es ao adotar limites em comum para proteger quem precisa.<\/p>\n<h4 style=\"text-align: justify\">Refer\u00eancia<\/h4>\n<p style=\"text-align: justify;padding-left: 30px\">Melissa Haendel et al, <strong>How many rare diseases are there? [<em>Quantas doen\u00e7as raras existem?<\/em>]<\/strong> <em>Nature Reviews Drug Discovery<\/em> (2019). <a href=\"https:\/\/www.nature.com\/articles\/d41573-019-00180-y\">DOI: 10.1038\/d41573-019-00180-y<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Doen\u00e7as raras s\u00e3o, bem, raras. Mas quantas s\u00e3o, exatamente? Esclarecer essa d\u00favida pode evitar diagn\u00f3sticos redundantes e facilitar as pesquisas. Em diversas \u00e1reas da ci\u00eancia, existem fen\u00f4menos dif\u00edceis de ser estudados por sua raridade. Na F\u00edsica, os neutrinos dificilmente reagem com a mat\u00e9ria comum; na Qu\u00edmica, h\u00e1 elementos t\u00e3o raros e ef\u00eameros que mal foram [&hellip;]<\/p>\n","protected":false},"author":486,"featured_media":10842,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_eb_attr":"","_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"material-hide-sections":[],"pgc_sgb_lightbox_settings":"","_vp_format_video_url":"","_vp_image_focal_point":[],"footnotes":""},"categories":[36,53,86,207],"tags":[1250],"class_list":["post-10841","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-biotecnologia","category-ciencia","category-divulgacao-cientifica","category-medicina","tag-doencas-raras"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - 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