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A team of doctors in the US have successfully edited the DNA of an infant to treat a rare and deadly genetic disorder. They used the first-of-a-kind gene editing approach, something they had never tried before, to save his life.
The doctors said the process has the potential to treat other devastating genetic diseases, too, reported The Guardian.
Just six months after the baby named KJ was born at Children's Hospital of Philadelphia with a life-threatening genetic disorder, doctors created a custom treatment for him. He was born with CPS1 deficiency, a rare illness that affects approximately 1 in 1.3 million people.
CPS1 deficiency is characterised by the absence of a liver enzyme that transforms ammonia from the body's normal protein breakdown into urea for excretion in urine. As a result, ammonia accumulates, which can harm the liver and other organs, including the brain.
The doctors penned the groundbreaking discovery in the New England Journal of Medicine and described the process. They said they carefully studied KJ's rare disease to find the mutations in his genes. Following this, they created a special gene-editing treatment to correct them. They also tested tiny fat particles, called nanoparticles, to carry it into the liver.
The therapy uses base editing, an effective method to rewrite the DNA code one letter at a time. According to The Guardian, the baby received the first dose of the medication via infusion in February, with two additional doses in March and April.
According to senior physician Dr Rebecca Ahrens-Nicklas, the discovery was made possible by "years and years of progress" in gene editing. Although KJ is only one patient, she stated, "We hope he is the first of many to benefit."
Professor Kiran Musunuru at the University of Pennsylvania said, "The promise of gene therapy that we've heard about for decades is coming to fruition, and it's going to utterly transform the way we approach medicine."
