The lack of animal models that mimic human disease impedes the study of many pathologies that still lack treatment beyond symptom relief. This is what has happened so far with PURA syndrome, a rare ...

For the first time, doctors have treated a baby born with a rare, life-threatening genetic disorder with a gene-editing therapy scientists tailored to specifically repair his unique mutation.

director of the Gene Therapy for Inherited Metabolic Disorders Frontier Program at CHOP, in a statement from the hospital. Soon after his birth last summer, KJ was diagnosed with severe carbamoyl ...

PURA, and CTNNB1—in human cell cultures and animal models. We stand on the brink of medical breakthroughs—we are so close. This research addresses a fundamental challenge in treating genetic disorders ...