In a medical breakthrough, US doctors treated a baby who was born with a rare genetic disease with a customised gene-editing therapy.
The baby was diagnosed with carbamoyl-phosphate synthetase 1 (CPS1) deficiency, a rare metabolic disorder that disrupts the urea cycle. This condition leads to the accumulation of toxic ammonia in the bloodstream, which can cause irreversible brain damage and is often fatal.
Affecting approximately 1 in 1.3 million people, CPS1 deficiency claims the lives of about half of all infants diagnosed within their first months of life, ABC reported.
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The treatment, detailed in a new study in The New England Journal of Medicine and presented at the American Society of Gene and Cell Therapy meeting, uses CRISPR—a powerful gene-editing technology likened to molecular scissors that can precisely cut and fix faulty genes. With this tool, researchers developed a customised therapy targeting the baby’s unique genetic mutation in the liver cells.
Doctors started by developing a simplified version of base-editing therapy, which involves changing a single part of the baby’s DNA to correct the mutation causing his condition. They then used a lipid nanoparticle—a tiny, fat-based carrier—to deliver the edited DNA directly to his liver cells, ABC reported.
The baby has received two infusions and is recovering well, doctors said
“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,” said Dr Kiran Musunuru, a University of Pennsylvania gene editing expert who co-authored the study published Thursday in the New England Journal of Medicine.
