{"id":108129,"date":"2025-05-17T04:41:13","date_gmt":"2025-05-17T04:41:13","guid":{"rendered":"https:\/\/www.europesays.com\/uk\/108129\/"},"modified":"2025-05-17T04:41:13","modified_gmt":"2025-05-17T04:41:13","slug":"custom-gene-editing-helps-baby-with-rare-condition-health-2","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/uk\/108129\/","title":{"rendered":"Custom Gene Editing Helps Baby With Rare Condition | Health"},"content":{"rendered":"<p><strong>Key Takeaways<\/strong><\/p>\n<ul>\n<li>\n<p>A baby with a rare genetic disorder received a custom gene editing treatment<\/p>\n<\/li>\n<li>\n<p>Docs used a new technique called base editing to fix his faulty DNA<\/p>\n<\/li>\n<li>\n<p>The baby is now growing well and &#8216;thriving&#8217;<\/p>\n<\/li>\n<\/ul>\n<p>FRIDAY, May 16, 2025 (HealthDay News) \u2014 A baby born with a rare and deadly genetic disease is the world&#8217;s first known patient to receive an experimental gene editing treatment designed just for him.<\/p>\n<p>KJ Muldoon from Clifton Heights, Pa., is thriving after the therapy to fix a tiny but essential flaw in his genetic code, doctors said this week. He was diagnosed shortly after birth with severe CPS1 deficiency, The Associated Press reported.\u00a0<\/p>\n<p>The condition, estimated to affect about one baby in a million, prevents the body from removing toxic ammonia.<\/p>\n<p>Without treatment, it can be deadly \u2014 half of affected infants don\u2019t survive.<\/p>\n<p>Doctors offered KJ\u2019s parents two options: a liver transplant or a first-of-its-kind gene editing therapy.<\/p>\n<p>\u201cWe were, like, you know, weighing all the options, asking all the questions for either the liver transplant, which is invasive, or something that\u2019s never been done before,\u201d KJ&#8217;s mother, Nicole Muldoon, told AP.<\/p>\n<p>\u201cWe prayed, we talked to people, we gathered information, and we eventually decided that this was the way we were going to go,\u201d her husband, Kyle Muldoon, added.<\/p>\n<p>Within six months, scientists from Children\u2019s Hospital of Philadelphia (CHOP), Penn Medicine and other partners created a therapy that targeted KJ\u2019s specific genetic mutation. The case is described in a study published May 15 in <a href=\"https:\/\/www.nejm.org\/doi\/full\/10.1056\/NEJMoa2504747\" target=\"_blank\" rel=\"noopener\">The New England Journal of Medicine<\/a>.<\/p>\n<p>They used a special type of CRISPR, a tool that edits genes and won its investors a Nobel prize in 2020.\u00a0<\/p>\n<p>Instead of cutting the DNA, this method \u2014 known as base editing \u2014 swaps the faulty part for the correct version. Experts say this approach lowers the chance of unwanted changes.<\/p>\n<p>KJ got his first infusion in February. It was delivered via fatty particles designed to carry the treatment into his liver cells, AP reported.\u00a0<\/p>\n<p>He has since received two more doses and at 9-1\/2 months of age, is now eating more, getting sick less often and taking fewer medications.<\/p>\n<p>&#8220;Any time we see even the smallest milestone that he\u2019s meeting \u2014 like a little wave or rolling over \u2014 that\u2019s a big moment for us,\u201d his mother said.<\/p>\n<p>While it\u2019s still early, doctors are hopeful. But they&#8217;ll need to monitor KJ for years to come.<\/p>\n<p>\u201cWe\u2019re still very much in the early stages of understanding what this medication may have done for KJ,\u201d study author <a href=\"https:\/\/www.chop.edu\/doctors\/ahrens-nicklas-rebecca\" target=\"_blank\" rel=\"noopener\">Dr. Rebecca Ahrens-Nicklas<\/a>, a gene therapy expert at CHOP, said. \u201cBut every day, he\u2019s showing us signs that he\u2019s growing and thriving.\u201d<\/p>\n<p>Experts say this case could help pave the way for similar treatments for other rare conditions. Most gene therapies are made for more common diseases because they are expensive to develop.\u00a0<\/p>\n<p>But this research, partly funded by the National Institutes of Health, shows that custom therapies may not be as costly as expected, AP said.<\/p>\n<p><a href=\"https:\/\/www.med.upenn.edu\/apps\/faculty\/index.php\/g275\/p8870185\" target=\"_blank\" rel=\"noopener\">Dr. Kiran Musunuru<\/a>, a gene editing expert at the University of Pennsylvania, said this treatment\u2019s cost was \u201cnot far off\u201d from the $800,000 price tag of a liver transplant.<\/p>\n<p>\u201cAs we get better and better at making these therapies and shorten the time frame even more, economies of scale will kick in and I would expect the costs to come down,\u201d he added.<\/p>\n<p>\u201cThis is the first step towards the use of gene editing therapies to treat a wide variety of rare genetic disorders for which there are currently no definitive medical treatments,&#8221; Musunuru said.<\/p>\n<p>The American Society of Gene &amp; Cell Therapy has more on <a href=\"https:\/\/patienteducation.asgct.org\/gene-therapy-101\/gene-editing\" target=\"_blank\" rel=\"noopener\">gene editing<\/a>.<\/p>\n<p>SOURCE: The Associated Press, May 15, 2025<\/p>\n<p><strong>What This Means For You<\/strong><\/p>\n<p>KJ&#8217;s case shows how new gene therapies might someday help kids with rare genetic conditions.<\/p>\n","protected":false},"excerpt":{"rendered":"Key Takeaways A baby with a rare genetic disorder received a custom gene editing treatment Docs used a&hellip;\n","protected":false},"author":2,"featured_media":108130,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3846],"tags":[49352,49349,1502,12848,27277,46974,48985,42824,17505,35232,2342,48984,3909,19391,30287,267,46175,105,49348,12308,48987,49350,3912,49353,49351,49354,70,16,15],"class_list":{"0":"post-108129","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-animal-husbandry","9":"tag-biochemistry","10":"tag-biology","11":"tag-biotechnology","12":"tag-branches-of-genetics","13":"tag-child-health","14":"tag-clinical-medicine","15":"tag-condition","16":"tag-consumer-news","17":"tag-crispr-gene-editing","18":"tag-disease","19":"tag-diseases-and-disorders","20":"tag-gene","21":"tag-gene-therapy","22":"tag-genetic-disorder","23":"tag-genetics","24":"tag-genome-editing","25":"tag-health","26":"tag-health-sciences","27":"tag-life-sciences","28":"tag-medical-specialties","29":"tag-medical-treatments","30":"tag-medicine","31":"tag-modification-of-genetic-information","32":"tag-molecular-biology","33":"tag-molecular-genetics","34":"tag-science","35":"tag-uk","36":"tag-united-kingdom"},"share_on_mastodon":{"url":"","error":"Validation failed: Text character limit of 500 exceeded"},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/108129","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/comments?post=108129"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/108129\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media\/108130"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media?parent=108129"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/categories?post=108129"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/tags?post=108129"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}