A groundbreaking treatment has been developed to save the life of a baby diagnosed with a rare genetic disease that kills 50% of babies by early infancy. The therapy, which uses CRISPR gene editing, was tailored to the baby’s specific genetic mutation and delivered directly to liver cells using a lipid nanoparticle.
The rare metabolic disorder, called carbamoyl-phosphate synthetase 1 deficiency, affects about 1 in 1.3 million people and causes deadly levels of ammonia to build up in the blood, leading to severe brain damage. The baby received two infusions at 7 and 8 months old and was able to reduce its medication dose by 50% with no bad side effects.
This treatment marks a major step forward in personalized medicine, where scientists can precisely slice and repair faulty genes using CRISPR. The approach is designed to be reusable, allowing doctors to swap in custom instructions for each patient’s specific gene mutation. This technology could lead to faster personalized therapies for rare diseases and provide hope for patients with no other treatment options.
The development of this therapy was made possible by a streamlined approach to base-editing therapy, which allowed doctors to create a tailored treatment for the baby in just six months. The next steps would be to build genomic centers of excellence where patients can receive unique therapies created for them in real time.
Source: https://abcnews.go.com/Health/doctors-save-babys-life-gene-fix-deadly-rare/story?id=121810273