{"id":47388,"date":"2025-05-27T10:35:16","date_gmt":"2025-05-27T05:05:16","guid":{"rendered":"https:\/\/vajiramandravi.com\/current-affairs\/?p=47388"},"modified":"2025-05-27T11:53:01","modified_gmt":"2025-05-27T06:23:01","slug":"nine-month-old-receives-worlds-first-successful-base-editing-therapy","status":"publish","type":"post","link":"https:\/\/vajiramandravi.com\/current-affairs\/nine-month-old-receives-worlds-first-successful-base-editing-therapy\/","title":{"rendered":"Nine-Month-Old Receives World&#8217;s First Successful Base Editing Therapy"},"content":{"rendered":"<h2>Breakthrough in Gene Editing Latest News<\/h2>\n<ul>\n<li>A nine-month-old boy, Kyle \u201cKJ\u201d Muldoon Jr., became the\u00a0<strong>first known human to be successfully treated<\/strong>\u00a0using\u00a0<strong>custom base editing therapy<\/strong>, a precise form of gene editing.<\/li>\n<li>KJ suffers from\u00a0<strong>CPS1 deficiency<\/strong>, a rare genetic disorder causing toxic ammonia buildup in blood.<\/li>\n<\/ul>\n<h2>Gene Editing Breakthrough<\/h2>\n<ul>\n<li><strong>What is the CPS1 deficiency? Carbamoyl Phosphate Synthetase I\u00a0<\/strong>(CPS1) deficiency\u00a0<strong>prevents the breakdown of nitrogen<\/strong>\u00a0in the body, and leads to\u00a0<strong>hyperammonemia<\/strong>, a potentially fatal condition.<\/li>\n<li><strong>Treatment innovation:<\/strong>\u00a0Scientists from the University of Pennsylvania and Children\u2019s Hospital of Philadelphia used<strong>\u00a0base editing<\/strong>, an advanced technique derived from<strong>\u00a0CRISPR-Cas9<\/strong>.<\/li>\n<\/ul>\n<h2>CRISPR and its Mechanism<\/h2>\n<ul>\n<li><strong>What is CRISPR?<\/strong>\n<ul>\n<li>Stands for\u00a0<strong>Clustered Regularly Interspaced Short Palindromic Repeats<\/strong>\u00a0(CRISPR), it is an immune system found in microbes such as bacteria which fights invading viruses.<\/li>\n<li>When a virus infects a bacterial cell,\u00a0<strong>CRISPR helps to establish a memory<\/strong>\u00a0(a genetic one, not in the form of antibodies like in humans).<\/li>\n<li>When a virus enters a bacterial cell,\u00a0<strong>the bacterium takes a piece of the virus\u2019s genome\u00a0<\/strong>and inserts the DNA into its own genome.<\/li>\n<li>CRISPR then produces a new\u00a0<strong>\u201cguide\u201d RNA<\/strong>, which directs an enzyme (a type of protein) called\u00a0<strong>Cas9\u00a0<\/strong>to act like \u201cmolecular scissors\u201d to cut and eliminate the virus DNA.<\/li>\n<\/ul>\n<\/li>\n<li><strong>Development of CRISPR-Cas9 technology:\u00a0<\/strong>Pioneered in\u00a0<strong>2012\u00a0<\/strong>by Jennifer Doudna and Emmanuelle Charpentier, which earned them the\u00a0<strong>Nobel Prize for Chemistry<\/strong>\u00a0(2020).<\/li>\n<\/ul>\n<h2>Working of CRISPR-Cas9 Gene Editing<\/h2>\n<p><img decoding=\"async\" src=\"https:\/\/vajiram-prod.s3.ap-south-1.amazonaws.com\/image1_649ee7631c.webp\" alt=\"image1.webp\" \/><\/p>\n<ul>\n<li><strong>The first task<\/strong>\u00a0for the gene-editing tool is to\u00a0<strong>identify the abnormal DNA<\/strong>\u00a0sequence behind a patient\u2019s ailment.\u00a0<\/li>\n<li>Once the bad DNA is located,\u00a0<strong>scientists create a guide RNA<\/strong>\u00a0attached to a Cas9 enzyme, which is then introduced to the target cells of the patient.<\/li>\n<li>The guide RNA\u00a0<strong>recognises the bad DNA sequence<\/strong>, then the Cas9 enzyme cuts the DNA at the specified location in a process called a \u201c<strong>double-strand break<\/strong>\u201d (since the cut is made on both strands of the DNA).\u00a0<\/li>\n<li><strong>To prevent the regrowth of bad sequence<\/strong>, scientists also supply the correct DNA sequence after the \u201ccutting\u201d process which is meant to attach itself to the broken strands of DNA.<\/li>\n<\/ul>\n<h2>Base Editing &#8211; The Next-Gen CRISPR<\/h2>\n<ul>\n<li><strong>Key features:<\/strong>\n<ul>\n<li>Base editing and CRISPR-Cas9\u00a0<strong>differ significantly<\/strong>\u00a0in how they modify DNA.\u00a0<\/li>\n<li>Unlike CRISPR-Cas9,\u00a0<strong>base editing does not make a double-strand break<\/strong>.\u00a0<\/li>\n<li>Rather, it enables\u00a0<strong>targeted single-base conversions<\/strong>\u00a0with the help of a Cas9 enzyme fused to a base-modifying enzyme.\u00a0<\/li>\n<li>This allows scientists to\u00a0<strong>fix mispairing of the bases<\/strong>\u00a0by changing one specific base.<\/li>\n<\/ul>\n<\/li>\n<li><strong>Application in KJ\u2019s case:<\/strong>\u00a0Specific mispaired base responsible for CPS1 was corrected.<\/li>\n<li><strong>Advantages:<\/strong>\n<ul>\n<li>Base editing system works like a\u00a0<strong>pencil and eraser<\/strong>, unlike the scissors and glue of CRISPR, and\u00a0<strong>doesn\u2019t require foreign DNA insertion<\/strong>.<\/li>\n<li>Precision, compact delivery, and fewer components.<\/li>\n<li>Easier to transport in viral vectors or other delivery systems.<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<h2>Ethical, Economic and Regulatory Challenges<\/h2>\n<ul>\n<li><strong>Accessibility and cost: Prohibitively expensive<\/strong>\u00a0&#8211; likely in hundreds of thousands of dollars. KJ\u2019s treatment is funded by research institutes and biotechnology firms.<\/li>\n<li><strong>Scalability issues:<\/strong>\n<ul>\n<li><strong>Treatment was personalised;<\/strong>\u00a0not applicable to other patients.<\/li>\n<li><strong>Commercial disincentive\u00a0<\/strong>for pharmaceutical companies due to high cost and customisation needs.<\/li>\n<\/ul>\n<\/li>\n<li><strong>Regulatory bottlenecks:\u00a0<\/strong>Complex approval mechanisms, especially in countries like India. Need for\u00a0<strong>reform in bioethics, policy, and governance<\/strong>\u00a0frameworks.<\/li>\n<\/ul>\n<h2>Conclusion &#8211; Hope Amidst Challenges<\/h2>\n<ul>\n<li>KJ\u2019s case marks\u00a0<strong>a milestone<\/strong>\u00a0in personalised medicine.\u00a0<\/li>\n<li>Despite its potential to revolutionise treatment of rare genetic diseases, base editing remains\u00a0<strong>constrained by cost, customisation, and policy hurdles<\/strong>.<\/li>\n<li>Future success will depend on efforts to\u00a0<strong>make advanced biotechnologies affordable, scalable, and ethically regulated.<\/strong><\/li>\n<\/ul>\n<h2>Breakthrough in Gene Editing FAQs<\/h2>\n<p><strong>Q1.<\/strong>\u00a0What is CPS1 deficiency, and how does it affect the human body?<\/p>\n<p><strong>Ans.<\/strong>\u00a0CPS1 deficiency is a rare genetic disorder that leads to the accumulation of toxic levels of ammonia in the blood due to a defect in the urea cycle enzyme Carbamoyl Phosphate Synthetase I.<\/p>\n<p><strong>Q2.<\/strong>\u00a0How does CRISPR-Cas9 gene-editing technology function at the molecular level?<\/p>\n<p><strong>Ans.\u00a0<\/strong>CRISPR-Cas9 uses a guide RNA to direct the Cas9 enzyme to a specific DNA sequence, where it introduces a double-strand break to remove or replace faulty genetic material.<\/p>\n<p><strong>Q3.<\/strong>\u00a0What is base editing, and how is it different from CRISPR-Cas9?<\/p>\n<p><strong>Ans.<\/strong>\u00a0Base editing is a precision gene-editing tool that alters a single DNA base without making double-strand breaks, unlike CRISPR-Cas9, which cuts both DNA strands and requires insertion of foreign DNA.<\/p>\n<p><strong>Q4.\u00a0<\/strong>Why is the application of base editing in clinical treatment currently limited?<\/p>\n<p><strong>Ans.<\/strong>\u00a0The clinical use of base editing is limited by high costs, customisation for individual patients, regulatory hurdles, and lack of scalability for mass application.<\/p>\n<p><strong>Q5.<\/strong>\u00a0Discuss the ethical and regulatory challenges in implementing personalised gene-editing therapies like base editing in India.<\/p>\n<p><strong>Ans.\u00a0<\/strong>India faces ethical concerns over genetic modifications and regulatory bottlenecks due to bureaucratic red tape, making the clinical implementation of personalised therapies like base editing difficult.<\/p>\n<p><strong>Source:\u00a0<\/strong><a href=\"https:\/\/indianexpress.com\/article\/explained\/explained-sci-tech\/explained-a-first-how-a-customised-gene-editing-tool-was-used-to-treat-9-month-old-boy-10030725\/\" target=\"_blank\" rel=\"nofollow noopener\">IE<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>A nine-month-old boy, Kyle \u201cKJ\u201d Muldoon Jr., became the first known human to be successfully treated using custom base editing therapy, a precise form of gene editing.<\/p>\n","protected":false},"author":8,"featured_media":47401,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[18],"tags":[439,60,22,59],"class_list":{"0":"post-47388","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-upsc-mains-current-affairs","8":"tag-breakthrough-in-gene-editing","9":"tag-mains-articles","10":"tag-upsc-current-affairs","11":"tag-upsc-mains-current-affairs","12":"no-featured-image-padding"},"acf":[],"_links":{"self":[{"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/posts\/47388","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/users\/8"}],"replies":[{"embeddable":true,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/comments?post=47388"}],"version-history":[{"count":0,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/posts\/47388\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/media\/47401"}],"wp:attachment":[{"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/media?parent=47388"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/categories?post=47388"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/vajiramandravi.com\/current-affairs\/wp-json\/wp\/v2\/tags?post=47388"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}