“American researchers have saved the life of a baby born with a rare genetic disorder through gene editing therapy.”
According to The Guardian and AP News on the 15th (local time), a baby named KJ Muldoon, born in Pennsylvania, was diagnosed with severe CPS I deficiency immediately after birth.
This condition causes a lack of the enzyme needed to convert ammonia, which occurs during the natural breakdown of protein in the body, for excretion through urine. As a result, ammonia builds up in the body, causing toxicity and posing a risk of damage to other organs like the liver or brain.
Some cases can be treated with a liver transplant. However, for those with severe CPS I deficiency since birth, by the time they are old enough for surgery, the damage may already be irreversible.
KJ’s parents considered a liver transplant but ultimately decided on gene therapy. The research team at the Children’s Hospital of Philadelphia and the University of Pennsylvania developed a treatment over six months that could correct the defective gene.
Although based on the CRISPR gene-editing technology that won the Nobel Prize in 2020, they used a technique called “base editing” to specifically correct the defective DNA sequence without cutting the DNA.
KJ was first given the gene editing therapy by injection in February and received follow-up treatments in March and April. Previously, KJ had to stay in the hospital and follow a restricted diet, but after the treatment, he was able to increase his protein intake and reduce medication.
The Guardian noted that this research was the first case to save a severe genetic disorder that often results in the death of half the affected infants through tailored gene editing therapy. International researchers interpreted it as showing the potential to rewrite defective DNA to treat fatal genetic disorders.
However, the medical team stated that while the initial results of the treatment are positive, follow-up observation is necessary to confirm its effects. Although it may take time for personalized gene therapy to become commercialized, the medical team hopes this technology will benefit millions of patients in the future. The results of this study were announced at the annual meeting of the American Society of Gene & Cell Therapy held in New Orleans.