{"id":25922,"date":"2026-10-05T20:12:01","date_gmt":"2026-10-05T16:12:01","guid":{"rendered":"https:\/\/medscriptum.org\/?p=25922"},"modified":"2026-10-05T20:19:04","modified_gmt":"2026-10-05T16:19:04","slug":"using-crispr-cas9-technology-scientists-removed-the-extra-chromosome-from-down-syndrome-cells","status":"publish","type":"post","link":"https:\/\/medscriptum.org\/en\/using-crispr-cas9-technology-scientists-removed-the-extra-chromosome-from-down-syndrome-cells\/","title":{"rendered":"Using CRISPR-Cas9 technology, scientists removed the extra chromosome from Down syndrome cells."},"content":{"rendered":"<p data-path-to-node=\"1\">According to a study published in the journal <i data-path-to-node=\"1\" data-index-in-node=\"46\">PNAS Nexus<\/i>, scientists have achieved a critical breakthrough in genetic research on Down syndrome. An international team of researchers (Ryotaro Hashizume et al.) successfully used the gene-editing tool CRISPR-Cas9 to safely and selectively eliminate the extra chromosome 21 from human cells.<\/p>\n<p data-path-to-node=\"2\">Down syndrome (trisomy 21), which affects approximately 1 in 700 newborns, is caused by the presence of a third, extra copy of chromosome 21. Previously existing methods to eliminate this superfluous chromosome were either imprecise or carried the risk of damaging all three chromosomes present in the cell.<\/p>\n<p data-path-to-node=\"3\">In the new study, scientists developed an &#8220;allele-specific&#8221; (AS) approach. They programmed the CRISPR-Cas9 system to target only the specific, extra chromosome and induce multiple cuts across it. As a result, the cell eliminated the targeted extra chromosome while leaving the remaining two chromosomes\u2014essential for healthy functioning\u2014entirely intact.<\/p>\n<p data-path-to-node=\"4\"><b data-path-to-node=\"4\" data-index-in-node=\"0\">Key Findings of the Study:<\/b><\/p>\n<ul data-path-to-node=\"5\">\n<li>\n<p data-path-to-node=\"5,0,0\"><b data-path-to-node=\"5,0,0\" data-index-in-node=\"0\">Success Across Diverse Cell Types:<\/b> The procedure was carried out effectively in both induced pluripotent stem cells (iPSCs) and differentiated skin cells, specifically fibroblasts. Crucially, the technique also functioned effectively in non-dividing cells.<\/p>\n<\/li>\n<li>\n<p data-path-to-node=\"5,1,0\"><b data-path-to-node=\"5,1,0\" data-index-in-node=\"0\">Cellular &#8220;Rescue&#8221;:<\/b> Observations demonstrated that eliminating the extra chromosome restored normal gene expression. This process also improved the cellular phenotype, meaning the cells functioned significantly better and showed a marked reduction in cellular stress.<\/p>\n<\/li>\n<li>\n<p data-path-to-node=\"5,2,0\"><b data-path-to-node=\"5,2,0\" data-index-in-node=\"0\">Strategies to Enhance Efficiency:<\/b> The researchers discovered that transient knockdown of DNA repair genes (<i data-path-to-node=\"5,2,0\" data-index-in-node=\"107\">LIG4<\/i>, <i data-path-to-node=\"5,2,0\" data-index-in-node=\"113\">POLQ<\/i>) proved beneficial to the process, considerably boosting the likelihood of successfully eliminating the fragmented, extra chromosome from the cell.<\/p>\n<\/li>\n<\/ul>\n<p data-path-to-node=\"6\">Although substantial further research is required before this technology can be applied clinically in patients, the authors emphasize that this achievement is groundbreaking. It lays a solid foundation for future high-tech medical interventions capable of treating not merely the symptoms, but the fundamental genetic causes of Down syndrome and other chromosomal abnormalities.<\/p>\n<p data-path-to-node=\"6\"><a href=\"https:\/\/academic.oup.com\/pnasnexus\/article\/4\/2\/pgaf022\/8016019?login=false\" target=\"_blank\" rel=\"noopener\">Oxford<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>According to a study published in the journal PNAS Nexus, scientists have achieved a critical breakthrough in genetic research on Down syndrome. An international team of researchers (Ryotaro Hashizume et al.) successfully used the gene-editing tool CRISPR-Cas9 to safely and selectively eliminate the extra chromosome 21 from human cells. Down syndrome (trisomy 21), which affects [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":25921,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[1594,1587],"tags":[7271],"class_list":["post-25922","post","type-post","status-publish","format-standard","has-post-thumbnail","category-news","category-research","tag-crispr-cas9-technology"],"acf":[],"_links":{"self":[{"href":"https:\/\/medscriptum.org\/en\/wp-json\/wp\/v2\/posts\/25922","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/medscriptum.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/medscriptum.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/medscriptum.org\/en\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/medscriptum.org\/en\/wp-json\/wp\/v2\/comments?post=25922"}],"version-history":[{"count":1,"href":"https:\/\/medscriptum.org\/en\/wp-json\/wp\/v2\/posts\/25922\/revisions"}],"predecessor-version":[{"id":25927,"href":"https:\/\/medscriptum.org\/en\/wp-json\/wp\/v2\/posts\/25922\/revisions\/25927"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/medscriptum.org\/en\/wp-json\/wp\/v2\/media\/25921"}],"wp:attachment":[{"href":"https:\/\/medscriptum.org\/en\/wp-json\/wp\/v2\/media?parent=25922"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/medscriptum.org\/en\/wp-json\/wp\/v2\/categories?post=25922"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/medscriptum.org\/en\/wp-json\/wp\/v2\/tags?post=25922"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}