Doctors have for the first time in history edited the DNA of a child with a severe genetic disease

Doctors in the US have for the first time used personalized gene therapy to treat an infant with a severe inherited disease that typically causes the death of about 50% of children who contract the disease in early childhood.

The infant received the first dose of the treatment drug via infusion in February, and the second and third doses in March and April. According to doctors, the child is feeling well, but will be under constant monitoring throughout his life. Experts at the Children’s Hospital of Philadelphia and the University of Pennsylvania began work immediately after the diagnosis and over a six-month period developed, manufactured and tested the drug for personalized therapy for safety.

The infant was diagnosed with severe CPS1 enzyme deficiency, a rare condition that occurs in about one in 1.3 million people. Such patients lack a liver enzyme needed to convert ammonia, produced when proteins are broken down, into urea, which is then eliminated from the body with urine. As a result, ammonia builds up and can damage the liver as well as other organs, including the brain. Although some patients with this diagnosis receive liver transplants, children with the severe form of the disease may already have irreversible damage by the time they are old enough for surgery.

In a paper published in the New England Journal of Medicine, the doctors detailed the complex process, from identifying the specific mutations that caused this infant’s disease to developing and testing gene therapy and fatty nanoparticles that deliver the drug to the liver. The basis of the therapy is a base editing technique that allows DNA to be altered by correcting individual “letters” of the genetic code.

The child spent the first few months of his life in the hospital on a strict diet. However, once treatment began, doctors were able to increase the protein content of his diet and reduce the doses of nitrogen-removing drugs. Medics note that it will take more time to definitively evaluate the effectiveness of the therapy, but the early results are encouraging.

“The promises of gene therapy that we’ve been hearing about for decades are coming to fruition, and this will completely change the way we approach medicine,” says Professor Kiran Musunuru of the University of Pennsylvania.

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Published: 22.05.2025

Updated: 22.05.2025

Medical author, Medical editor:

Stepan Yuk

Medical expert:

PhD. Olexandr Voznyak