A groundbreaking gene-editing therapy was recently used to treat a newborn with a rare and life-threatening liver disorder, marking a major milestone in personalized medicine. On May 15, researchers from the Children’s Hospital of Philadelphia (CHOP) and collaborating institutions published the case in the New England Journal of Medicine, describing how the therapy targeted a mutation in the CPS1 gene — critical for the urea cycle, which converts ammonia into a less toxic compound excreted in urine.
Without a functioning CPS1 enzyme, ammonia accumulates rapidly in the body, risking irreversible brain damage or death. The infant, born with two defective copies of the gene, was too small for a liver transplant, the standard long-term treatment. Conventional approaches like protein-restricted diets and medications were insufficient to prevent dangerous spikes in ammonia levels. Given the urgency, clinicians and scientists rapidly developed and administered a personalized gene-editing therapy tailored to the infant’s exact genetic mutation.
What makes this treatment particularly novel is its speed and specificity. Unlike traditional gene therapies that might introduce a working copy of a gene, this approach aimed to directly correct the genetic error within the patient’s liver cells using CRISPR-based editing — a first for this particular condition. It was developed and deployed in record time thanks to close coordination between academic researchers, biotech partners, and regulators. The FDA granted emergency authorization in just one week, acknowledging the severity of the case and the lack of alternatives.
However, despite its promise, this kind of intervention is not yet feasible for widespread use among all individuals with genetic diseases. The process is highly individualized, requiring time-consuming and expensive development of customized therapies for each patient’s unique mutation. Moreover, rigorous testing is needed to ensure safety and precision, as off-target effects of gene editing can have unintended consequences.
Still, this case represents a significant leap forward in the field of genomic medicine.While the child is not cured and still requires monitoring, the treatment has reduced dependence on medications and expanded dietary options — meaningful improvements in quality of life. Researchers hope this success will pave the way for faster, safer, and more scalable gene-editing therapies in the future, though much work remains before such treatments can become routine.
The science behind the treatment – https://www.sciencenews.org/article/personalized-crispr-gene-edit-therapy