A 9 ½ month baby, KJ Muldoon, now became the first human ever to receive a personalized gene-editing treatment. The baby was born with CPS1 deficiency, which is an uncommon genetic disorder with 1-1.3 million births that prevents the body from removing ammonia. Usually, a baby is born with this disorder and passes away within a week, and even survivors remain with severe brain damage and often require a liver transplant.
Luckily for this specific baby, doctors at the Children’s Hospital of Philadelphia and research from the University of Pennsylvania discovered a custom CRISPR-based “base editing” therapy for KJ’s exact genetic mutation. The treatment involves using lipid nanoparticles to deliver the editor to the liver. It also contains instructions to produce an enzyme that fixes the mutated DNA letter. It also includes a “GPS” that targets KJ’s unique mutation. This specific process is much faster and cheaper than gene therapy before.
This is a huge development for the healthcare community. This can impact over 30 million Americans and over 7,000 rare genetic disorders. Whereas previous genetic treatments offered limited hope because of the disorders being far too rare, this case offers a sense of relief because personalized gene editing could now be possible for many more patients.
KJ ultimately received three infusions of the gene editor. After the first dose, he was able to tolerate normal protein levels. His ammonia-removal medication was reduced by half. He was able to fight off viral infections that previously would have threatened his life. He is now meeting milestones of development and preparing to go home.
References
Cleveland Clinic. (2023, April 25). CRISPR gene editing 101. https://health.clevelandclinic.org/crispr-gene-editing
Kolata, G. (n.d.). Baby is healed with world’s first personalized gene-editing treatment - The New York Times. https://www.nytimes.com/2025/05/15/health/gene-editing-personalized-rare-disorders.html
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