{"id":1816,"date":"2023-01-13T15:32:42","date_gmt":"2023-01-13T15:32:42","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1816"},"modified":"2026-02-23T00:21:46","modified_gmt":"2026-02-23T00:21:46","slug":"fxn-gene-methylation-determines-carrier-status-in-friedreich-ataxia","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2023\/01\/13\/fxn-gene-methylation-determines-carrier-status-in-friedreich-ataxia\/","title":{"rendered":"FXN gene methylation determines carrier status in Friedreich ataxia (Contributed by Dr. Sanjay I. Bidichandani)"},"content":{"rendered":"

Friedreich ataxia is a genetic condition that is characterized by progressive incoordination and unsteadiness that leads to loss of independent mobility, and premature mortality due to heart disease. It is transmitted by unaffected parents who are \u201ccarriers\u201d for the genetic defect that causes Friedreich ataxia, which the child inherits from both parents. Genetic testing of carriers is technically challenging and labs typically use multiple techniques to confirm the diagnosis of carriers. We describe a new technique that serves to efficiently diagnose carriers. (https:\/\/jmg.bmj.com\/content\/early\/2023\/01\/11\/jmg-2022-108742<\/a> )<\/p>\n

\"\"<\/a><\/p>\n

In the picture (from right to left): Christina Lam, Sanjay I. Bidichandani, Layne Rodden, and Morgan Tackett<\/p>\n","protected":false},"excerpt":{"rendered":"

Friedreich ataxia is a genetic condition that is characterized by progressive incoordination and unsteadiness that leads to loss of independent mobility, and premature mortality due to heart disease. It is transmitted by unaffected parents who are \u201ccarriers\u201d for the genetic defect that causes Friedreich ataxia, which the child inherits from both parents. Genetic testing of […]<\/p>\n

Read More…<\/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-1816","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nFXN gene methylation determines carrier status in Friedreich ataxia (Contributed by Dr. Sanjay I. Bidichandani) - 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\/01\/13\/fxn-gene-methylation-determines-carrier-status-in-friedreich-ataxia\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"FXN gene methylation determines carrier status in Friedreich ataxia (Contributed by Dr. Sanjay I. Bidichandani) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Friedreich ataxia is a genetic condition that is characterized by progressive incoordination and unsteadiness that leads to loss of independent mobility, and premature mortality due to heart disease. It is transmitted by unaffected parents who are \u201ccarriers\u201d for the genetic defect that causes Friedreich ataxia, which the child inherits from both parents. Genetic testing of [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2023\/01\/13\/fxn-gene-methylation-determines-carrier-status-in-friedreich-ataxia\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2023-01-13T15:32:42+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T00:21:46+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2023\/01\/Lab-pic-ICAR-Nov-2022-scaled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"2560\" \/>\n\t<meta property=\"og:image:height\" content=\"1920\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\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\\\/01\\\/13\\\/fxn-gene-methylation-determines-carrier-status-in-friedreich-ataxia\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2023\\\/01\\\/13\\\/fxn-gene-methylation-determines-carrier-status-in-friedreich-ataxia\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"FXN gene methylation determines carrier status in Friedreich ataxia (Contributed by Dr. Sanjay I. 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