Wee Pioneer is KJ Muldoon, now a 9 and a half year old boy with chubby cheeks and big blue eyes.
Shortly after his birth, he was diagnosed with a rare and severe condition called CPS1 deficiency.
It is caused by mutations in genes that produce enzyme keys in genes and prevents people suffering from certain toxic wastes produced by their metabolism.
“You Google Google’s ‘CPS1 deficiency’, either mortality or liver transplant,” said Nicole Muldoon, the mother of the baby, in a video released by Children’s Hospital in Philadelphia.
With the harsh prognosis, doctors have come up with something that has never been done before: a personalized treatment that can use a pair of molecular scissors to repair the baby’s genome – a technology called CRISPR-CAS9 – a technology whose creator won the Nobel Prize in Chemistry in 2020, which has left him and his wife never making impossible decisions for our children. Before, right? “Kyle Muldoon said.
Finally, they agreed to let the child inject his infusion for him to repair his genetic mutations—the DNA letters in the billions that make up the human genome are incorrect.
“This drug is really designed for KJ, so he is specific to his genetic variants. It’s personalized medicine,” said Rebecca Ahrens-Nicklas, a member of the medical team specializing in pediatric genetics.
Once the tailored infusion reaches the liver, its molecular scissors penetrate the cells and begin editing the boy’s defective genes.
The medical team, which published the study in the New England Journal of Medicine on Thursday, said the results are promising for others with genetic conditions.
KJ can now follow a more protein-rich diet – his condition had previously forbidden to do so – and does not require as many medications as he used to.
But he will need to follow up long term to monitor the safety and efficacy of treatment, the team said.
Ahrens-Nicklas said she hopes the achievement will make the boys have little medication one day.
“We hope he is the first of many methods to benefit from the ones that can be scaled,” the doctor said.
