{"id":75346,"date":"2022-08-17T20:45:00","date_gmt":"2022-08-18T00:45:00","guid":{"rendered":"https:\/\/www.shortform.com\/blog\/?p=75346"},"modified":"2022-08-23T14:23:57","modified_gmt":"2022-08-23T18:23:57","slug":"application-of-dna-sequencing","status":"publish","type":"post","link":"https:\/\/www.shortform.com\/blog\/application-of-dna-sequencing\/","title":{"rendered":"The Applications of DNA Sequencing in Medicine"},"content":{"rendered":"\n<p>What is DNA sequencing? What is DNA sequencing used for in modern medicine? <\/p>\n\n\n\n<p>DNA sequencing makes it possible to extract the genetic information that is carried within a DNA molecule or even a whole genome. Nowadays, gene sequencing technology allows doctors and researchers to find and diagnose genetic diseases.&nbsp;<\/p>\n\n\n\n<p>Keep reading to learn about the current applications of DNA sequencing in medicine. <\/p>\n\n\n\n<!--more-->\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-bringing-gene-sequencing-to-medicine\"><strong>Bringing Gene Sequencing to Medicine<\/strong><\/h2>\n\n\n\n<p><a href=\"https:\/\/www.shortform.com\/blog\/victor-mckusick-susan-hsu-hela\/\">Victor McKusick<\/a>, a doctor of internal medicine, led the charge to bring genetics to medicine. He first became interested in genes in 1947, when he found that a certain disease (now called Peutz-Jeghers syndrome) ran in families and concluded that it must be the result of a defective gene.\u00a0Thus began the applications of DNA sequencing in medicine.<\/p>\n\n\n\n<p><strong>By 1998, McKusick had discovered some 12,000 disease-causing gene variants.<\/strong> He\u2019d also found that some disorders are the result of a single mutation\u2014such as sickle-cell anemia\u2014while others are much more complex. For example, Down\u2019s syndrome is the result of someone inheriting an entire extra chromosome, while conditions like cancer and heart disease can be influenced (though not directly caused) by numerous different genes.&nbsp;<\/p>\n\n\n\n<p>In many cases, gene sequencing techniques even allow doctors to diagnose diseases and disorders in utero, allowing the mother to make informed decisions about whether to proceed with the pregnancy. The first such case occurred in 1968, when a woman known only as J.G. decided to terminate her pregnancy rather than give birth to a child who was likely to live a very short and painful life.&nbsp;<\/p>\n\n\n\n<figure class=\"wp-block-table\"><table><tbody><tr><td><strong>Types of Mutation<\/strong><br><br>There are so many disease-causing variants of genes because DNA codes for complex and highly specific proteins, and mutations often result in those proteins being made incorrectly (or not being made at all). Since proteins carry out thousands of different tasks within the body, those mutations can interfere with bodily functions in countless ways.&nbsp;<br><br>Broadly speaking, <a href=\"http:\/\/www2.csudh.edu\/nsturm\/CHEMXL153\/DNAMutationRepair.htm\">there are three types of mutation:<\/a><br><br>1. A <strong>silent mutation <\/strong>has no effect; despite the mutation, the gene ends up coding for the same protein. It\u2019s like replacing one word in a sentence with another word that means the same thing. For example, \u201dI\u2019m <em>driving<\/em> to the store\u201d becomes \u201cI\u2019m <em>going <\/em>to the store.\u201d&nbsp;<br><br>2. A <strong>missense mutation <\/strong>causes the gene to produce a different protein than usual. Proteins with missense mutations are often less effective or efficient in carrying out their tasks, if they can perform them at all. For example, in sickle-cell anemia, a change in the protein <em>hemoglobin <\/em>causes red blood cells to become deformed and rigid, making it more difficult for those cells to carry oxygen throughout the body. Again, imagine replacing one word in a sentence, but this time you replace it with something that changes the meaning\u2014\u201cI\u2019m <em>driving <\/em>to the store\u201d becomes \u201cI\u2019m <em>dancing <\/em>to the store.\u201d<br><br>3. A <strong>nonsense mutation <\/strong>makes it so the gene\u2019s instructions are cut off early, usually making the protein stunted and nonfunctional. For example, in cystic fibrosis, a missing or nonfunctional cell membrane protein prevents moisture from passing through and entering the lungs. As a result, mucus that would normally get cleared out of the lungs becomes too thick and sticky to expel. A nonsense mutation is like replacing a word with a period, so \u201cI\u2019m <em>driving <\/em>to the store\u201d becomes just \u201cI\u2019m.\u201d&nbsp;<\/td><\/tr><\/tbody><\/table><\/figure>\n","protected":false},"excerpt":{"rendered":"<p>What is DNA sequencing? What is DNA sequencing used for in modern medicine? DNA sequencing makes it possible to extract the genetic information that is carried within a DNA molecule or even a whole genome. Nowadays, gene sequencing technology allows doctors and researchers to find and diagnose genetic diseases.&nbsp; Keep reading to learn about the current applications of DNA sequencing in medicine.<\/p>\n","protected":false},"author":7,"featured_media":17580,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[16,160],"tags":[715],"class_list":["post-75346","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-health","category-science","tag-the-gene","","tg-column-two"],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v24.3 (Yoast SEO v24.3) - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>The Applications of DNA Sequencing in Medicine - Shortform Books<\/title>\n<meta name=\"description\" content=\"Gene sequencing technology has the potential to revolutionize medicine. Learn about the applications of DNA sequencing in modern medicine.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.shortform.com\/blog\/application-of-dna-sequencing\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"The Applications of DNA Sequencing in Medicine\" \/>\n<meta property=\"og:description\" content=\"Gene sequencing technology has the potential to revolutionize medicine. Learn about the applications of DNA sequencing in modern medicine.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.shortform.com\/blog\/application-of-dna-sequencing\/\" \/>\n<meta property=\"og:site_name\" content=\"Shortform Books\" \/>\n<meta property=\"article:published_time\" content=\"2022-08-18T00:45:00+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2022-08-23T18:23:57+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/s3.amazonaws.com\/wordpress.shortform.com\/blog\/wp-content\/uploads\/2020\/11\/dna-inner-fish.png\" \/>\n\t<meta property=\"og:image:width\" content=\"958\" \/>\n\t<meta property=\"og:image:height\" content=\"888\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"Darya Sinusoid\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"Darya Sinusoid\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"3 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/www.shortform.com\/blog\/application-of-dna-sequencing\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.shortform.com\/blog\/application-of-dna-sequencing\/\"},\"author\":{\"name\":\"Darya Sinusoid\",\"@id\":\"https:\/\/www.shortform.com\/blog\/#\/schema\/person\/0421cce75bc249b11e2517b3a91f9c46\"},\"headline\":\"The Applications of DNA Sequencing in Medicine\",\"datePublished\":\"2022-08-18T00:45:00+00:00\",\"dateModified\":\"2022-08-23T18:23:57+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/www.shortform.com\/blog\/application-of-dna-sequencing\/\"},\"wordCount\":569,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\/\/www.shortform.com\/blog\/#organization\"},\"image\":{\"@id\":\"https:\/\/www.shortform.com\/blog\/application-of-dna-sequencing\/#primaryimage\"},\"thumbnailUrl\":\"https:\/\/www.shortform.com\/blog\/wp-content\/uploads\/2020\/11\/dna-inner-fish.png\",\"keywords\":[\"The Gene\"],\"articleSection\":[\"Health\",\"Science\"],\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\/\/www.shortform.com\/blog\/application-of-dna-sequencing\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/www.shortform.com\/blog\/application-of-dna-sequencing\/\",\"url\":\"https:\/\/www.shortform.com\/blog\/application-of-dna-sequencing\/\",\"name\":\"The Applications of DNA Sequencing in Medicine - Shortform Books\",\"isPartOf\":{\"@id\":\"https:\/\/www.shortform.com\/blog\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\/\/www.shortform.com\/blog\/application-of-dna-sequencing\/#primaryimage\"},\"image\":{\"@id\":\"https:\/\/www.shortform.com\/blog\/application-of-dna-sequencing\/#primaryimage\"},\"thumbnailUrl\":\"https:\/\/www.shortform.com\/blog\/wp-content\/uploads\/2020\/11\/dna-inner-fish.png\",\"datePublished\":\"2022-08-18T00:45:00+00:00\",\"dateModified\":\"2022-08-23T18:23:57+00:00\",\"description\":\"Gene sequencing technology has the potential to revolutionize medicine. 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