{"id":133233,"date":"2025-05-26T12:28:10","date_gmt":"2025-05-26T12:28:10","guid":{"rendered":"https:\/\/www.europesays.com\/uk\/133233\/"},"modified":"2025-05-26T12:28:10","modified_gmt":"2025-05-26T12:28:10","slug":"this-babys-one-in-a-million-genetic-disorder-had-no-cure-so-scientists-designed-one-just-for-him","status":"publish","type":"post","link":"https:\/\/www.europesays.com\/uk\/133233\/","title":{"rendered":"This Baby\u2019s One-in-a-Million Genetic Disorder Had No Cure. So Scientists Designed One Just for Him"},"content":{"rendered":"

KJ Muldoon came into the world with a genetic time bomb ticking inside him.<\/p>\n

Doctors at the Children\u2019s Hospital of Philadelphia had barely finished running newborn screens when the diagnosis landed: severe carbamoyl phosphate synthetase 1 deficiency, or CPS1. It\u2019s a rare genetic disorder\u2014striking only one in a million newborns\u2014that prevents the body from safely processing protein. Without that ability, ammonia builds up in the blood, poisoning the brain.<\/p>\n

Most babies with KJ\u2019s condition don\u2019t survive long enough to receive a liver transplant, the standard treatment. \u201cEvery day that passed there was another risk that he could have neurologic injury from an elevated ammonia episode,\u201d Dr. Rebecca Ahrens-Nicklas, one of KJ\u2019s physicians, told NPR<\/a>.<\/p>\n

Faced with an impossible choice\u2014wait for a transplant, or try an untested therapy\u2014the Muldoons chose the unknown.<\/p>\n

\n

\u201cWe either had to have a liver transplant or give him this medicine that\u2019s never been given to anybody before,\u201d KJ\u2019s father, Kyle Muldoon, said in a statement<\/a>. \u201cIt was an impossible choice, but we felt this was the best possible scenario for a life that, at one point, we didn\u2019t know if he would be able to have.\u201d<\/p>\n<\/blockquote>\n

\"Kyle<\/a>Kyle Muldoon plays with his son KJ after an infusion treatment. Credit: Chloe Dawson\/Children\u2019s Hospital of Philadelphia<\/p>\n

A Genetic Moonshot<\/p>\n

What followed was a scientific race against time.<\/p>\n

An international team of researchers, physicians, and biotech collaborators\u2014supported by the National Institutes of Health<\/a> and guided by the FDA\u2014crafted a bespoke therapy in just six months. It was a gene-editing treatment designed specifically for a single patient: KJ. The therapy used a refined CRISPR method called base editing, which rewrites one letter of DNA without cutting the strand.<\/p>\n

\u201cWe programmed it to go to the site of the genetic variant that was causing the disease in KJ,\u201d said Dr. Kiran Musunuru, a cardiologist and gene-editing researcher at the University of Pennsylvania. The custom tool, delivered in a lipid nanoparticle, traveled through KJ\u2019s bloodstream to his liver cells\u2014the very place where his disease originated.<\/p>\n

Unlike other CRISPR-based treatments that target common disorders like sickle cell disease or beta thalassemia in large groups of patients, this approach was built specifically for a single patient. \u201cNo one has developed a personalized gene-editing therapy for an infant,\u201d said Ahrens-Nicklas. \u201cIt was quite a nerve-wracking but exciting day. And it was quite a momentous day.\u201d<\/p>\n

Life After the Edit<\/p>\n

The first dose was low. The team didn\u2019t want to risk flooding the child\u2019s system with a new drug\u2014especially one never before tested in humans. The therapy\u2019s components, donated by companies like Acuitas Therapeutics and Integrated DNA Technologies, were designed to be redeliverable, allowing multiple infusions over time.<\/p>\n

Almost immediately, doctors saw signs of success. KJ could tolerate more protein in his diet, a milestone for children with CPS1. After a second infusion, they began reducing the medications that controlled his ammonia levels. A third dose followed.<\/p>\n

When KJ caught a cold\u2014and later, a gastrointestinal infection\u2014doctors braced for a spike in ammonia. Instead, his body coped. \u201cWe were very concerned when the baby got sick, but the baby just shrugged the illness off,\u201d said Musunuru.<\/p>\n

Today, KJ is nearly ten months old. He sits up in his crib, rolls over, and plays. \u201cThat\u2019s big for us,\u201d his mother, Nicole Muldoon, told NPR. \u201cWe never thought this was going to happen.\u201d<\/p>\n

Still, no one is saying this is a definite cure yet. \u201cThis is still really early days,\u201d said Ahrens-Nicklas. \u201cWe know we have more to learn from him.\u201d<\/p>\n

\"Kj<\/a>Kj at the Children\u2019s Hospital of Philadelphia after his third infusion treatment. Credit: Chloe Dawson\/Children\u2019s Hospital of Philadelphia<\/p>\n

A Glimpse of the Future?<\/p>\n

This case marks a turning point in medicine. For the first time, a CRISPR treatment wasn\u2019t designed to help thousands\u2014but one. Fyodor Urnov, a geneticist at the University of California, Berkeley noted, \u201cI think we can say: This is the year when CRISPR-on-demand is truly born.\u201d<\/p>\n

As a proof of principle, it shows what\u2019s possible when you blend fast diagnostics, regulatory flexibility, open scientific collaboration, and a modular CRISPR platform. \u201cAs a platform, gene editing\u2014built on reusable components and rapid customization\u2014promises a new era of precision medicine,\u201d said Dr. Joni Rutter, director of the NIH\u2019s National Center for Advancing Translational Sciences.<\/p>\n

But serious questions remain.<\/p>\n

How many patients could benefit from such hyper-personalized treatments? Possibly thousands\u2014especially children with ultra-rare diseases for which no therapies exist.<\/p>\n

Can this ever be affordable? That\u2019s harder to answer. Even conventional gene therapies designed for hundreds of people often carry price tags in the millions of dollars. \u201cThere\u2019s no great answer to this,\u201d said Dr. Waseem Qasim, a gene therapy expert at University College London, to Nature<\/a>.<\/p>\n

The science is moving quickly. Already, researchers are adapting base editing to tackle other disorders\u2014genetic blindness, sickle cell anemia, and rare neurological diseases. Each therapy will need its own design. But the template is in place.<\/p>\n

For now, KJ\u2019s story stands alone. A baby, a mutation, and a one-in-a-million rescue. But it may not stand alone for long.<\/p>\n","protected":false},"excerpt":{"rendered":"KJ Muldoon came into the world with a genetic time bomb ticking inside him. Doctors at the Children\u2019s…\n","protected":false},"author":2,"featured_media":133234,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[3846],"tags":[14192,35234,267,58647,70,16,15],"class_list":{"0":"post-133233","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-crispr","9":"tag-gene-editing","10":"tag-genetics","11":"tag-personalized-therapy","12":"tag-science","13":"tag-uk","14":"tag-united-kingdom"},"share_on_mastodon":{"url":"https:\/\/pubeurope.com\/@uk\/114574138018734066","error":""},"_links":{"self":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/133233","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=133233"}],"version-history":[{"count":0,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/posts\/133233\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media\/133234"}],"wp:attachment":[{"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/media?parent=133233"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/categories?post=133233"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.europesays.com\/uk\/wp-json\/wp\/v2\/tags?post=133233"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}