United States: The baby who was born with a dangerous genetic disorder is doing well as he receives a gene editing treatment designed specifically for him.
An announcement in the medical journal Nature describes how the baby was among the first to benefit from a bespoke therapy that aims to repair a flaw in his genes that leads to the early deaths of about half of patients.
While it could still be many years before other patients might benefit from approaches like this, physicians are optimistic that the technology may one day provide life-changing therapies to those whose conditions are exceedingly uncommon.
According to Dr. Kiran Musunuru, a University of Pennsylvania gene editing expert who co-authored the study published Thursday in the New England Journal of Medicine, “This is the first step towards the use of gene editing therapies to treat a wide variety of rare genetic disorders for which there are currently no definitive medical treatments,” US News reported.
A Pennsylvania baby born with a rare and dangerous genetic disease is growing and thriving after getting an experimental gene editing treatment made just for him.https://t.co/LALigux4Zc
— Anchorage Daily News (@adndotcom) May 15, 2025
The baby, KJ Muldoon, is one of 350 million people everywhere who have rare diseases, which are often genetic.
He was found to have severe CPS1 deficiency only a few days after his birth, and some medical authorities believe this condition occurs in fewer than 1 in 1 million babies.
These babies can’t excrete ammonia from their blood like most people can, leading to dangerous levels of the chemical.
Some patients with the condition can receive a liver transplant. KJ’s condition made his parents fear he might not survive.
Knowing KJ’s odds, parents Kyle and Nicole Muldoon, who are both 34, worried they could lose him.
“We were, like, you know, weighing all the options, asking all the questions for either the liver transplant, which is invasive, or something that’s never been done before,” as Nicole stated.