{"id":11884,"date":"2022-02-03T13:05:53","date_gmt":"2022-02-03T11:05:53","guid":{"rendered":"https:\/\/h3africa.org\/?p=11884"},"modified":"2022-02-07T13:25:55","modified_gmt":"2022-02-07T11:25:55","slug":"record-breaking-rapid-dna-sequencing-promises-timely-diagnosis-for-thousands-of-rare-disease-cases","status":"publish","type":"post","link":"https:\/\/h3africa.org\/index.php\/2022\/02\/03\/record-breaking-rapid-dna-sequencing-promises-timely-diagnosis-for-thousands-of-rare-disease-cases\/","title":{"rendered":"Record-breaking rapid DNA sequencing promises timely diagnosis for thousands of rare disease cases"},"content":{"rendered":"<p>[vc_row][vc_column][vc_column_text css=&#8221;.vc_custom_1644232007721{margin-top: 36px !important;}&#8221;]<\/p>\n<h3 class=\"entry-title\"><span class=\"nobr\">Record-breaking<\/span>&nbsp;rapid DNA sequencing promises timely diagnosis for thousands of rare disease&nbsp;cases<\/h3>\n<hr>\n<p>[\/vc_column_text][\/vc_column][\/vc_row][vc_row][vc_column][vc_single_image image=&#8221;11889&#8243; img_size=&#8221;full&#8221; add_caption=&#8221;yes&#8221; alignment=&#8221;center&#8221; style=&#8221;vc_box_rounded&#8221;][vc_column_text]<\/p>\n<p style=\"font-size: 17px; color: #000000;\">For children suffering from rare diseases, it usually&nbsp;<a style=\"text-decoration: none;\" href=\"https:\/\/www.globalrarediseasecommission.com\/Report\">takes years to receive a diagnosis<\/a>. This \u201c<a style=\"text-decoration: none;\" href=\"https:\/\/www.raconteur.net\/infographics\/the-diagnostic-odyssey\/\">diagnostic odyssey<\/a>\u201d is filled with multiple referrals and a barrage of tests, seeking to uncover the root cause behind mysterious and debilitating symptoms.<\/p>\n<p>[\/vc_column_text][vc_column_text]<\/p>\n<p style=\"font-size: 17px; color: #000000;\">A new speed record in DNA sequencing may soon help families more quickly find answers to difficult and life-altering questions.<\/p>\n<p>[\/vc_column_text][vc_column_text]<\/p>\n<p style=\"font-size: 17px; color: #000000;\">In just&nbsp;<a style=\"text-decoration: none;\" href=\"https:\/\/doi.org\/10.1056\/NEJMc2112090\">7 hours, 18 minutes<\/a>, a team of researchers at Stanford Medicine went from collecting a blood sample to offering a disease diagnosis. This unprecedented turnaround time is the result of ultra-rapid DNA sequencing technology paired with massive cloud storage and computing. This improved method of diagnosing diseases allows researchers to discover previously undocumented sources of genetic diseases, shining new light on the&nbsp;<a style=\"text-decoration: none;\" href=\"https:\/\/www.genome.gov\/human-genome-project\/Completion-FAQ#:%7E:text=with%20a%20G.-,The%20human%20genome%20contains%20approximately%203%20billion%20of%20these%20base,nucleus%20of%20all%20our%20cells.\">6 billion letters<\/a>&nbsp;in the human genome.<\/p>\n<p>[\/vc_column_text][vc_column_text]<\/p>\n<p style=\"font-size: 17px; color: #000000;\">More than&nbsp;<a style=\"text-decoration: none;\" href=\"https:\/\/www.nichd.nih.gov\/newsroom\/resources\/spotlight\/020116-rare-disease-day\">7,000 rare diseases<\/a>&nbsp;affect&nbsp;<a style=\"text-decoration: none;\" href=\"https:\/\/doi.org\/10.1038\/s41431-019-0508-0\">300 million people worldwide<\/a>, 50% of whom are children. Of these diseases,&nbsp;<a style=\"text-decoration: none;\" href=\"https:\/\/doi.org\/10.1016\/S2213-8587(19)30006-3\">80% have a genetic component<\/a>. The onset of some rare genetic diseases can be swift and debilitating. Spotting symptoms and identifying the root cause is a race against the clock for many families.<\/p>\n<p>[\/vc_column_text][vc_column_text]<\/p>\n<p style=\"font-size: 17px; color: #000000;\">I\u2019m a&nbsp;<a style=\"text-decoration: none;\" href=\"https:\/\/scholar.google.com\/citations?user=F5ogte8AAAAJ&amp;hl=en\">biotechnology and policy scholar<\/a>&nbsp;who works on improving access to innovative health care technologies. Whether it\u2019s simple and affordable tests or&nbsp;<a style=\"text-decoration: none;\" href=\"https:\/\/theconversation.com\/new-gene-therapies-may-soon-treat-dozens-of-rare-diseases-but-million-dollar-price-tags-will-put-them-out-of-reach-for-many-164990\">sophisticated and expensive gene therapies<\/a>, medical breakthroughs need to reach populations around the world. I believe that ultra-rapid DNA sequencing is key to casting a wider net and providing a faster turnaround for diagnosing rare diseases.<\/p>\n<p>[\/vc_column_text][vc_column_text]<\/p>\n<pre style=\"font-size: 17px; color: #000000;\"><strong><em>This curated information was sourced from the <a style=\"text-decoration: none;\" href=\"https:\/\/theconversation.com\/\" target=\"_blank\" rel=\"noopener\">https:\/\/theconversation.com\/<\/a> web page<\/em><\/strong><strong><em>.<\/em><\/strong><\/pre>\n<p>[\/vc_column_text][\/vc_column][\/vc_row][vc_row][vc_column][vc_btn title=&#8221;Read Full Article&#8221; style=&#8221;outline&#8221; color=&#8221;juicy-pink&#8221; align=&#8221;center&#8221; button_block=&#8221;true&#8221; link=&#8221;url:https%3A%2F%2Ftheconversation.com%2Frecord-breaking-rapid-dna-sequencing-promises-timely-diagnosis-for-thousands-of-rare-disease-cases-175480||target:%20_blank|&#8221;][\/vc_column][\/vc_row]<\/p>\n","protected":false},"excerpt":{"rendered":"<p>[vc_row][vc_column][vc_column_text css=&#8221;.vc_custom_1644232007721{margin-top: 36px !important;}&#8221;] Record-breaking&nbsp;rapid DNA sequencing promises timely diagnosis<span class=\"excerpt-hellip\"> [\u2026]<\/span><\/p>\n","protected":false},"author":2,"featured_media":11889,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_coblocks_attr":"","_coblocks_dimensions":"","_coblocks_responsive_height":"","_coblocks_accordion_ie_support":"","footnotes":""},"categories":[28],"tags":[182],"class_list":["post-11884","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-news","tag-182"],"_links":{"self":[{"href":"https:\/\/h3africa.org\/index.php\/wp-json\/wp\/v2\/posts\/11884","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/h3africa.org\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/h3africa.org\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/h3africa.org\/index.php\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/h3africa.org\/index.php\/wp-json\/wp\/v2\/comments?post=11884"}],"version-history":[{"count":5,"href":"https:\/\/h3africa.org\/index.php\/wp-json\/wp\/v2\/posts\/11884\/revisions"}],"predecessor-version":[{"id":11892,"href":"https:\/\/h3africa.org\/index.php\/wp-json\/wp\/v2\/posts\/11884\/revisions\/11892"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/h3africa.org\/index.php\/wp-json\/wp\/v2\/media\/11889"}],"wp:attachment":[{"href":"https:\/\/h3africa.org\/index.php\/wp-json\/wp\/v2\/media?parent=11884"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/h3africa.org\/index.php\/wp-json\/wp\/v2\/categories?post=11884"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/h3africa.org\/index.php\/wp-json\/wp\/v2\/tags?post=11884"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}