A groundbreaking medical breakthrough was achieved in the US when a team of scientists and doctors successfully developed the world’s first bespoke gene therapy to save the life of a newborn baby born with a rare genetic disorder. The innovative treatment, which employed CRISPR gene editing technology, showed drastic improvement after three doses, offering hope for millions of people worldwide who suffer from similar conditions.
A rare genetic disorder called severe carbamoyl phosphate synthetase 1 (CPS1) deficiency affects only one in every 1.3 million babies and can have deadly consequences, including impact on brain development and liver function. The treatment typically involves a liver transplant, but it was not feasible for the infant boy due to his young age.
Working with a team of specialists across the US, doctors developed a targeted gene therapy to fix the specific variant of CPS1 in the newborn’s genome. After six months of research, the treatment was administered on February 25, and within two weeks, the baby began eating protein like a healthy infant. Although it is unclear if he will eventually need a liver transplant, the baby has been saved thanks to this pioneering medical intervention.
The world’s first bespoke in vivo gene therapy demonstrates decades of progress in gene editing and collaboration between researchers and clinicians, offering new hope for patients with now-fixable genetic disorders. As Dr. Kiran Musunuru, the gene-editing specialist who worked on the case, said, “We want each and every patient to have the potential to experience the same results we saw in this first patient.”
Source: https://www.popularmechanics.com/science/health/a64815804/crispr-therapy