A team of doctors and scientists have successfully treated a rare genetic condition with the first-ever personalized gene-editing therapy. Results of the groundbreaking treatment have been published in The New England Journal of Medicine, with an accompanying editorial by a doctor who had previously overseen the FDA’s gene-therapy regulation efforts.
The patient in this historic case was KJ, an infant born with CPS1 deficiency, which has about a 50 percent mortality rate within the first week. Patients that do survive can experience severe brain disease, mental and developmental delays, and potential liver transplants. His care team developed a personalized gene-editing treatment based on CRISPR, a technology for modifying human DNA.
The successful gene repair for KJ combined years’ worth of previous federally-funded medical research, including the discovery of CRISPR and human genome sequencing that allowed the mutation to be identified.
This approach to gene editing could potentially be used in the future to aid patients with other genetic disorders, such as sickle cell disease, cystic fibrosis, Huntington’s disease and muscular dystrophy. A pair of CRISPR-based drugs have already received FDA approval for sickle cell disease treatments, but there is still a lot to potentially be explored in this field.
