{"id":9236,"date":"2022-06-15T05:38:34","date_gmt":"2022-06-15T05:38:34","guid":{"rendered":"https:\/\/www.booksofall.com\/?post_type=product&#038;p=9236"},"modified":"2022-06-15T05:42:15","modified_gmt":"2022-06-15T05:42:15","slug":"searching-for-a-diagnosis-how-scientists-are-untangling-the-mystery-of-developmental-disorders","status":"publish","type":"product","link":"https:\/\/www.booksofall.com\/pt\/searching-for-a-diagnosis-how-scientists-are-untangling-the-mystery-of-developmental-disorders\/","title":{"rendered":"Searching for a diagnosis: how scientists are untangling the mystery of developmental disorders"},"content":{"rendered":"<h4 id=\"standfirst\" class=\"article__standfirst\">There are between 6,000 and 8,000 known rare diseases, many of which affect children\u2019s development. One pioneering project is showing how, 17 years since the first draft of the human genome, our genes are giving up their secrets and bringing\u00a0hope to parents around the world.<\/h4>\n<aside class=\"article__aside\">\n<div class=\"article__aside__section article__share-buttons\" role=\"group\">\n<div class=\"share-buttons\" role=\"group\">\n<div class=\"paragraph paragraph--text\">\n<p>vie Walker sits on Alison\u2019s lap, playing a game she never grows tired of: turning her mum\u2019s hand over and over, stroking and examining it. When she takes a break and looks around, it is with the open-mouthed look of curiosity and awe that you see in many infants. Evie\u2019s vocabulary currently consists of a repertoire of squawks and \u201cmmm\u201d sounds. In the past few months, she has begun to stand unaided for short periods \u2013 even taking a few steps in her walking frame \u2013 progress that fills her parents with immeasurable pride, not to mention hope for the future.<\/p>\n<p>Despite her baby-like demeanour, Evie is eight years old. She has PURA syndrome, a vanishingly rare developmental disorder that didn\u2019t officially exist until four years ago. Developmental disorders affect children\u2019s normal mental or physical development. Before she was diagnosed, all Evie\u2019s parents knew was that she suffered from \u2018global developmental delay\u2019: a vague umbrella term for a set of symptoms with myriad potential causes \u2013 some, but not all of them, associated with a heartbreakingly poor prognosis.<\/p>\n<\/div>\n<div class=\"paragraph paragraph--text\">\n<p>Yet thanks to advances in genome sequencing, more and more families like the Walkers are receiving an accurate diagnosis for their child\u2019s condition, and with it a clearer picture of what the future holds. In some cases, like Evie\u2019s, it reveals they are suffering from a completely new disease; in others \u2013 albeit a minority of cases, for now \u2013 it reveals a potential treatment for a condition that had hitherto seemed untreatable.<\/p>\n<p>It\u2019s not only children with developmental disorders whose lives are being transformed by this technology. In October 2018, NHS England will launch its Genomic Medicine Service, 13 genomic medicine centres that will provide whole genome sequencing to people with undiagnosed rare diseases and cancer \u2013 another disease of mutated genes.<\/p>\n<p>By uncovering the exact genomic changes driving tumour growth, doctors can choose more effective treatments. In so doing, the NHS says England will become one of the first countries in the world to routinely offer \u201ccomprehensive and equitable access to the latest in genomic testing and management for the whole country, regardless of condition and where people live\u201d.<\/p>\n<h4>Reference:<\/h4>\n<ul>\n<li>This\u00a0<a href=\"https:\/\/www.nature.com\/articles\/nrg.2017.116.pdf?origin=ppub\">2018 paper<\/a>\u00a0from Helen Firth and colleagues gives an overview of the \u201cimmature but rapidly evolving field\u201d of paediatric genomics.<\/li>\n<li><a href=\"https:\/\/www.raredisease.org.uk\/\">Rare Disease UK<\/a>\u00a0works to raise the profile of rare diseases across the UK.<\/li>\n<li><a href=\"https:\/\/www.ddduk.org\/\">The homepage of the DDD study<\/a>.<\/li>\n<li>The\u00a0<a href=\"https:\/\/www.purasyndrome.org\/\">PURA Syndrome Foundation<\/a>\u00a0exists to support families affected by PURA syndrome, educate people about the condition, and fund research.<\/li>\n<\/ul>\n<\/div>\n<\/div>\n<\/div>\n<\/aside>\n","protected":false},"excerpt":{"rendered":"<p><iframe style=\"width: 100%; height: 750px; border: none;\" src=\"https:\/\/online.visual-paradigm.com\/share\/book\/searching-for-a-diagnosis-how-scientists-are-untangling-the-mystery-of-developmental-disorders-zl3ma6km3?enforceShowPromotionBar=true\" frameborder=\"0\" allowfullscreen=\"allowfullscreen\"><\/iframe><\/p>\n","protected":false},"featured_media":9251,"template":"","meta":{"_yoast_wpseo_title":"","_yoast_wpseo_metadesc":"Optimize your web marketing strategy with an attractive flipbook like this one. Try Visual Paradigm today!"},"product_brand":[],"product_cat":[15,219],"product_tag":[],"class_list":{"0":"post-9236","1":"product","2":"type-product","3":"status-publish","4":"has-post-thumbnail","6":"product_cat-all","7":"product_cat-biology","9":"first","10":"instock","11":"shipping-taxable","12":"product-type-simple"},"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.1.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Searching for a diagnosis: how scientists are untangling the mystery of developmental disorders - BooksOfAll Portuguese<\/title>\n<meta name=\"description\" content=\"Optimize your web marketing strategy with an attractive flipbook like this one. 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