PHILADELPHIA — A team of U.S. doctors has successfully edited the DNA of a baby to treat a rare and life-threatening genetic disease, using a groundbreaking method never before tried in a human patient.
The child, known as KJ, was born with CPS1 deficiency, a rare condition affecting about 1 in 1.3 million people. The disorder prevents the body from producing a liver enzyme needed to turn ammonia into urea, which is safely removed through urine. Without the enzyme, ammonia builds up in the body and can damage the liver, brain, and other organs.
Just six months after KJ was born at Children’s Hospital of Philadelphia, doctors created a custom treatment based on a cutting-edge gene editing technique. Their success, published in the New England Journal of Medicine, marks a major milestone in genetic medicine.
The medical team first analyzed KJ’s DNA to locate the specific gene mutations causing the illness. Then they developed a targeted treatment using base editing — a precise method of changing DNA one letter at a time. To deliver the therapy, they used tiny fat-based particles, called nanoparticles, which carried the edited genetic material directly to the liver.
KJ received his first infusion of the gene-editing drug in February, followed by two more doses in March and April. Early results have been promising.
“This achievement builds on years and years of progress in gene editing,” said Dr. Rebecca Ahrens-Nicklas, one of the lead doctors on the case. “KJ is just one patient, but we hope he’s the first of many to benefit from this type of therapy.”
Experts say this success could open the door to treating other serious genetic conditions. “The promise of gene therapy that we’ve heard about for decades is finally becoming reality,” said Professor Kiran Musunuru of the University of Pennsylvania. “It’s going to transform how we practice medicine.”
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