Historic Medical Breakthrough: Baby’s DNA Rewritten to Cure Rare Genetic Disease

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Medical Breakthrough: DNA Rewritten to Save Infant

Historic Medical Breakthrough: Baby’s DNA Rewritten to Cure Rare Genetic Disease.In a historic medical first, US doctors have successfully rewritten the DNA of an infant named KJ, born with a severe and rare genetic disorder called CPS1 deficiency, which causes toxic ammonia buildup in the body. This condition affects about 1 in 1.3 million people and is often fatal in early infancy.

Understanding CPS1 Deficiency:

The Silent Threat of Ammonia Build-UpCPS1 deficiency is a rare genetic disorder where affected individuals lack a crucial liver enzyme responsible for converting ammonia—a toxic byproduct of protein breakdown—into urea for safe excretion through urine. Without this enzyme, ammonia accumulates in the body, causing severe damage to vital organs, especially the liver and brain.

Precision Gene Editing Using Base Editing

The treatment involved a cutting-edge gene-editing technique called base editing, which allows scientists to correct DNA one letter at a time. After identifying KJ’s unique genetic mutations, the team designed a personalized therapy and delivered it through infusions starting in February 2025, followed by two more doses in March and April.

Promising Results and Lifelong Monitoring

Post-treatment, KJ is reported to be thriving, with improved health and reduced need for medication, though he will require ongoing monitoring throughout his life. The therapy’s success marks a milestone in gene therapy, offering hope for millions suffering from rare genetic diseases worldwide.

A New Era in Genetic Medicine

Experts hail this achievement as the culmination of years of progress in gene editing, potentially transforming medical approaches to genetic disorders. The team at Children’s Hospital of Philadelphia and the University of Pennsylvania aims to extend this personalized therapy to many more patients in the future. This breakthrough, published in the New England Journal of Medicine, represents a major step toward curing devastating genetic diseases by rewriting faulty DNA soon after birth.

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