{"id":10711,"date":"2024-02-27T10:55:58","date_gmt":"2024-02-27T10:55:58","guid":{"rendered":"https:\/\/www.healthnews.ie\/?p=10711"},"modified":"2024-02-29T08:56:31","modified_gmt":"2024-02-29T08:56:31","slug":"gene-editing-innovations-targeting-multiple-variants-for-rare-diseases","status":"publish","type":"post","link":"https:\/\/www.healthnews.ie\/rare-diseases\/gene-editing-innovations-targeting-multiple-variants-for-rare-diseases\/","title":{"rendered":"Gene editing innovations targeting multiple variants for rare diseases"},"content":{"rendered":"\n<div style=\"background-color:#f2f2f2;color:#32373c\" class=\"wp-block-atomic-blocks-ab-profile-box round ab-has-avatar ab-font-size-14 ab-block-profile ab-profile-columns\"><div class=\"ab-profile-column ab-profile-avatar-wrap\"><div class=\"ab-profile-image-wrap\"><figure class=\"ab-profile-image-square\"><img loading=\"lazy\" decoding=\"async\" width=\"701\" height=\"701\" class=\"ab-profile-avatar wp-image-10712\" src=\"https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2024\/02\/07205957\/HARRISON-500kb-1.jpg\" alt=\"\" srcset=\"https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2024\/02\/07205957\/HARRISON-500kb-1.jpg 701w, https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2024\/02\/07205957\/HARRISON-500kb-1-125x125.jpg 125w, https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2024\/02\/07205957\/HARRISON-500kb-1-600x600.jpg 600w\" sizes=\"auto, (max-width: 701px) 100vw, 701px\" \/><\/figure><\/div><\/div><div class=\"ab-profile-column ab-profile-content-wrap\"><h2 class=\"ab-profile-name\" style=\"color:#32373c\">Patrick T. Harrison, PhD<\/h2><p class=\"ab-profile-title\" style=\"color:#32373c\">Professor of Molecular Physiology, Department of Physiology, University College Cork<\/p><div class=\"ab-profile-text\"><\/div><ul class=\"ab-social-links\"><\/ul><\/div><\/div>\n\n\n\n<p><em>A <a href=\"https:\/\/publish.ucc.ie\/researchprofiles\/C008\/pharrison\" target=\"_blank\" rel=\"noreferrer noopener\">Cork-based research team<\/a> is developing groundbreaking gene editing strategies that target multiple variants to tackle rare diseases.<\/em><\/p>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p>At the genetic level, we each have many, small variants in our DNA that make each of us unique. Occasionally, one of these variants disrupts the instructions for making an essential protein in our body. This is the cause of many rare diseases such as cystic fibrosis (CF), which affects about 2,000 people in Ireland. So, if some of these variants cause a disease, can you target them directly to develop new treatments?<\/p>\n\n\n<div id=\"healt-788017545\"><div class=\"healt-adlabel\">Advertisements<\/div><div id=\"healt-2226582320\" style=\"margin-top: 30px;margin-bottom: 30px;\"><a data-no-instant=\"1\" href=\"https:\/\/publish.ucc.ie\/researchprofiles\/C008\/pharrison\" rel=\"noopener\" class=\"a2t-link\" target=\"_blank\" aria-label=\"UCC desk\"><img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2024\/02\/07205955\/UCC-desk.jpg\" alt=\"\"  width=\"750\" height=\"250\"   \/><\/a><\/div><\/div>\n\n\n<h2 class=\"wp-block-heading\" id=\"h-gene-editing-for-cf\"><strong>Gene editing for CF<\/strong><\/h2>\n\n\n\n<p>In 2012, a technique known as gene editing was successfully used for the first time to target the most common DNA variant that causes CF. \u201cBy editing the DNA sequence of a disease-causing variant, you can restore the instructions to make a functional protein,\u201d notes Patrick Harrison, Professor of Molecular Physiology at <a href=\"https:\/\/publish.ucc.ie\/researchprofiles\/C008\/pharrison\" target=\"_blank\" rel=\"noreferrer noopener\">University College Cork<\/a>, who led this breakthrough study.<\/p>\n\n\n\n<p>However, as CF can be caused by any 1 of over 500 variants, the use of gene editing strategies that only target one variant at a time would mean developing potentially hundreds of approaches just for one disease.<\/p>\n\n\n\n<blockquote class=\"wp-block-quote is-layout-flow wp-block-quote-is-layout-flow\">\n<p>By editing the DNA sequence of a disease-causing <br>variant, you can restore the instructions <br>to make a functional protein.<\/p>\n<\/blockquote>\n\n\n\n<h2 class=\"wp-block-heading\" id=\"h-gene-editing-for-multiple-variants\"><strong>Gene editing for multiple variants<\/strong><\/h2>\n\n\n\n<p>\u201cThe question is whether we can find strategies where you can edit small clusters of variants in the same region of DNA,\u201d says Harrison. \u201cWe are developing techniques that could do this for three or four such clusters. If we could then translate this to the clinic, it could restore production of a functional protein for most people with CF.\u201d<\/p>\n\n\n\n<p>Harrison adds: \u201cThis is important, as many of the variants we are targeting do not respond to the recently approved CF \u2018modulator\u2019 drugs. In Ireland, that\u2019s about 20% of people with CF; potentially 50% of people with CF globally.\u201d<\/p>\n\n\n<div id=\"healt-915459239\"><div class=\"healt-adlabel\">Advertisements<\/div><div id=\"healt-1713706907\" style=\"margin-top: 30px;margin-bottom: 30px;\"><a data-no-instant=\"1\" href=\"https:\/\/publish.ucc.ie\/researchprofiles\/C008\/pharrison\" rel=\"noopener\" class=\"a2t-link\" target=\"_blank\" aria-label=\"UCC desk\"><img loading=\"lazy\" decoding=\"async\" src=\"https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2024\/02\/07205955\/UCC-desk.jpg\" alt=\"\"  width=\"750\" height=\"250\"   \/><\/a><\/div><\/div>\n\n\n<h2 class=\"wp-block-heading\" id=\"h-expanding-gene-editing-applications\"><strong>Expanding gene editing applications<\/strong><\/h2>\n\n\n\n<p>CF advances may translate to other lung disorders or rare diseases affecting different organs. Harrison elaborates that the field is progressing swiftly. Merely three months ago, the first <a href=\"https:\/\/publish.ucc.ie\/researchprofiles\/C008\/pharrison\" target=\"_blank\" rel=\"noreferrer noopener\">gene editing<\/a> medicine gained approval for sickle cell disease, marking a remarkable breakthrough. However, further research is imperative to extend this technology&#8217;s reach to numerous other diseases \u2014 and enhancing accessibility must be prioritised.<\/p>\n\n\n<!DOCTYPE html PUBLIC \"-\/\/W3C\/\/DTD HTML 4.0 Transitional\/\/EN\" \"http:\/\/www.w3.org\/TR\/REC-html40\/loose.dtd\">\n<html><body><div style=\"text-align:center\" class=\"wp-block-atomic-blocks-ab-button ab-block-button\"><a href=\"https:\/\/publish.ucc.ie\/researchprofiles\/C008\/pharrison\" target=\"_blank\" rel=\"noopener noreferrer\" class=\"ab-button ab-button-shape-rounded ab-button-size-medium fb-pixel\" style=\"color:#ffffff;background-color:#01b2a9\">Click here to learn more<\/a><\/div>\n<\/body><\/html>\n\n\n\n<hr class=\"wp-block-separator has-alpha-channel-opacity\"\/>\n\n\n\n<p><em>Research in the Harrison Lab is supported by Science Foundation Ireland, CF Trust (UK) and CF Foundation (USA).<\/em><\/p>\n","protected":false},"excerpt":{"rendered":"<p>A Cork-based research team is developing groundbreaking gene editing strategies that target multiple variants to tackle rare diseases. At the genetic level, we each have many, small variants in our DNA that make each of us unique. Occasionally, one of these variants disrupts the instructions for making an essential protein in our body. This is &hellip; <a href=\"https:\/\/www.healthnews.ie\/rare-diseases\/gene-editing-innovations-targeting-multiple-variants-for-rare-diseases\/\">Continued<\/a><\/p>\n","protected":false},"author":91,"featured_media":10715,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[5778],"tags":[5887],"class_list":["post-10711","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-rare-diseases","tag-rare-diseases-q1-2024"],"acf":[],"featured_image_src":"https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2024\/02\/07205956\/GettyImages-1485674887-600x400.jpg","featured_image_src_square":"https:\/\/s3.eu-north-1.amazonaws.com\/cdn-site.mediaplanet.com\/app\/uploads\/sites\/94\/2024\/02\/07205956\/GettyImages-1485674887-600x600.jpg","author_info":{"display_name":"henryphillips","author_link":"https:\/\/www.healthnews.ie\/author\/henryphillips\/"},"vicky_index_order":"","_links":{"self":[{"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/posts\/10711","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/users\/91"}],"replies":[{"embeddable":true,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/comments?post=10711"}],"version-history":[{"count":6,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/posts\/10711\/revisions"}],"predecessor-version":[{"id":10784,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/posts\/10711\/revisions\/10784"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/media\/10715"}],"wp:attachment":[{"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/media?parent=10711"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/categories?post=10711"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.healthnews.ie\/wp-json\/wp\/v2\/tags?post=10711"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}