{"id":1897,"date":"2023-10-01T16:33:24","date_gmt":"2023-10-01T16:33:24","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1897"},"modified":"2026-02-22T23:53:56","modified_gmt":"2026-02-22T23:53:56","slug":"carriers-of-autosomal-recessive-conditions-are-they-really-unaffected","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2023\/10\/01\/carriers-of-autosomal-recessive-conditions-are-they-really-unaffected\/","title":{"rendered":"Carriers of autosomal recessive conditions: are they really \u2018unaffected?\u2019 (Contributed by Drs. Justine Keathley and Amber Hames)"},"content":{"rendered":"<p>It is currently accepted that certain genetic diseases require the inheritance of two \u201cdisease-causing\u201d genetic variants to result in symptoms of a disease. However, some early studies suggest that the inheritance of only one of these \u201cdisease-causing\u201d variants may result in less severe disease symptoms. People who have only one &#8220;disease-causing&#8221; variant are called carriers.\u00a0 This article provides some examples of such conditions where carriers present with some level of disease symptoms, but to a lesser extent than those diagnosed with the condition. Understanding how carriers may be affected in terms of symptoms and bodily function is important in order to provide appropriate healthcare in these cases. More research in carriers of these conditions is needed. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2023\/09\/29\/jmg-2023-109563\">https:\/\/jmg.bmj.com\/content\/early\/2023\/09\/29\/jmg-2023-109563<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/10\/01\/carriers-of-autosomal-recessive-conditions-are-they-really-unaffected\/unnamed-13\/\" rel=\"attachment wp-att-1898\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1898\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/10\/unnamed-300x224.png\" alt=\"\" width=\"300\" height=\"224\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/10\/unnamed-300x224.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/10\/unnamed-1024x764.png 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/10\/unnamed-768x573.png 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/10\/unnamed-640x477.png 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2023\/10\/unnamed.png 1439w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>From left to right: Clara Gilliland, Kevin Magda, Amber Hames, Hillary Lo, Dr. Justine Keathley, Sophia Khan and Lucy Goldman.<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>It is currently accepted that certain genetic diseases require the inheritance of two \u201cdisease-causing\u201d genetic variants to result in symptoms of a disease. However, some early studies suggest that the inheritance of only one of these \u201cdisease-causing\u201d variants may result in less severe disease symptoms. People who have only one &#8220;disease-causing&#8221; variant are called carriers.\u00a0 [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/10\/01\/carriers-of-autosomal-recessive-conditions-are-they-really-unaffected\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1897","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Carriers of autosomal recessive conditions: are they really \u2018unaffected?\u2019 (Contributed by Drs. Justine Keathley and Amber Hames) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2023\/10\/01\/carriers-of-autosomal-recessive-conditions-are-they-really-unaffected\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Carriers of autosomal recessive conditions: are they really \u2018unaffected?\u2019 (Contributed by Drs. Justine Keathley and Amber Hames) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"It is currently accepted that certain genetic diseases require the inheritance of two \u201cdisease-causing\u201d genetic variants to result in symptoms of a disease. However, some early studies suggest that the inheritance of only one of these \u201cdisease-causing\u201d variants may result in less severe disease symptoms. People who have only one &#8220;disease-causing&#8221; variant are called carriers.\u00a0 [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2023\/10\/01\/carriers-of-autosomal-recessive-conditions-are-they-really-unaffected\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2023-10-01T16:33:24+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T23:53:56+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/10\/unnamed-1024x764.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1024\" \/>\n\t<meta property=\"og:image:height\" content=\"764\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/10\\\/01\\\/carriers-of-autosomal-recessive-conditions-are-they-really-unaffected\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/10\\\/01\\\/carriers-of-autosomal-recessive-conditions-are-they-really-unaffected\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Carriers of autosomal recessive conditions: are they really \u2018unaffected?\u2019 (Contributed by Drs. 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His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Carriers of autosomal recessive conditions: are they really \u2018unaffected?\u2019 (Contributed by Drs. 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People who have only one &#8220;disease-causing&#8221; variant are called carriers.\u00a0 [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2023\/10\/01\/carriers-of-autosomal-recessive-conditions-are-they-really-unaffected\/","og_site_name":"JMG Contact blog","article_published_time":"2023-10-01T16:33:24+00:00","article_modified_time":"2026-02-22T23:53:56+00:00","og_image":[{"width":1024,"height":764,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/10\/unnamed-1024x764.png","type":"image\/png"}],"author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2023\/10\/01\/carriers-of-autosomal-recessive-conditions-are-they-really-unaffected\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2023\/10\/01\/carriers-of-autosomal-recessive-conditions-are-they-really-unaffected\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Carriers of autosomal recessive conditions: are they really \u2018unaffected?\u2019 (Contributed by Drs. 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