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Strange Sounds<\/a> – October 28, 2020<\/p>\n There are likely hundreds of men in the United States, if not more, who suffer from a just-discovered genetic disease that causes symptoms including blood clots in veins, recurrent fevers, lung system abnormalities, and \u2014 in 40% of patients \u2014 death.\u00a0<\/strong><\/p>\n Researchers from the National Institutes of Health discovered the disease, named VEXAS, by working backwards: Rather than grouping people with similar symptoms and searching for biological explanations, they searched the genetic makeup of 2,500 people for variations that could be linked to the wide-ranging symptoms of their undiagnosed inflammatory conditions.<\/p>\n \u201cWe had many patients with undiagnosed inflammatory conditions who were coming to the NIH Clinical Center, and we were just unable to diagnose them<\/strong><\/em>,\u201d said<\/a> Dr. David B. Beck, clinical fellow at NHGRI and lead author of the paper.<\/p>\n \u201cThat\u2019s when we had the idea of doing it the opposite way. Instead of starting with symptoms, start with a list of genes. Then, study the genomes of undiagnosed individuals and see where it takes us.<\/em>\u201c<\/p>\n Using that method, the scientists eventually identified three middle-aged men who all had the same mutations in a gene called UBA1<\/strong>. They later discovered 22 other men with the same mutations and similar symptoms, like blood clots and fevers.<\/p>\n The research team named the disease VEXAS<\/strong> after its key characteristics: vacuoles<\/strong> (unusual cavity-like structures in certain cells), E1 enzyme<\/strong> (which is related to UBA1), X-linked<\/strong> (per the chromosome it\u2019s connected to), autoinflammatory<\/strong> (meaning the immune system accidentally attacks the body) and somatic<\/strong> (since the condition seems ot pop up sometime during the patient\u2019s life, rather than at birth).<\/p>\n The researchers suspect VEXAS has only been found in men because it\u2019s linked to the X chromosome, of which men only have one. Women\u2019s additional X chromosome, they hypothesize, could be protective in this case.<\/p>\n https:\/\/strangesounds.org<\/a><\/p>\n","protected":false},"excerpt":{"rendered":" Strange Sounds – October 28, 2020 There are likely hundreds of men in the United States, if not more, who suffer from a just-discovered genetic disease that causes symptoms including blood clots in veins, recurrent fevers, lung system abnormalities, and \u2014 in 40% of patients \u2014 death.\u00a0 Researchers from the National Institutes of Health discovered … Continue reading New deadly disease dubbed VEXAS gives men fevers, blood clots, and inflammation<\/span><\/a><\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_newsletter_access":"","_jetpack_dont_email_post_to_subs":false,"_jetpack_newsletter_tier_id":0,"_jetpack_memberships_contains_paywalled_content":false,"_jetpack_memberships_contains_paid_content":false,"footnotes":"","jetpack_publicize_message":"","jetpack_publicize_feature_enabled":true,"jetpack_social_post_already_shared":true,"jetpack_social_options":{"image_generator_settings":{"template":"highway","default_image_id":0,"font":"","enabled":false},"version":2},"jetpack_post_was_ever_published":false},"categories":[15],"tags":[36,22,15386,23,2029,42,15357],"class_list":["post-19122","post","type-post","status-publish","format-standard","hentry","category-pale-horse","tag-disaster","tag-disease","tag-dr-david-b-beck","tag-epidemic","tag-nih","tag-outbreak","tag-vexas"],"jetpack_publicize_connections":[],"jetpack_featured_media_url":"","jetpack-related-posts":[],"jetpack_sharing_enabled":true,"jetpack_shortlink":"https:\/\/wp.me\/p8fAkI-4Yq","_links":{"self":[{"href":"https:\/\/setapartbytruth.org\/wordpress-watchman\/wp-json\/wp\/v2\/posts\/19122","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/setapartbytruth.org\/wordpress-watchman\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/setapartbytruth.org\/wordpress-watchman\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/setapartbytruth.org\/wordpress-watchman\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/setapartbytruth.org\/wordpress-watchman\/wp-json\/wp\/v2\/comments?post=19122"}],"version-history":[{"count":1,"href":"https:\/\/setapartbytruth.org\/wordpress-watchman\/wp-json\/wp\/v2\/posts\/19122\/revisions"}],"predecessor-version":[{"id":19124,"href":"https:\/\/setapartbytruth.org\/wordpress-watchman\/wp-json\/wp\/v2\/posts\/19122\/revisions\/19124"}],"wp:attachment":[{"href":"https:\/\/setapartbytruth.org\/wordpress-watchman\/wp-json\/wp\/v2\/media?parent=19122"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/setapartbytruth.org\/wordpress-watchman\/wp-json\/wp\/v2\/categories?post=19122"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/setapartbytruth.org\/wordpress-watchman\/wp-json\/wp\/v2\/tags?post=19122"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}