Explicação simples
An infant with a severe metabolic disease had a base editor designed specifically for his own mutation, made, approved and given to him — the whole process in roughly six months. He improved and went home. It is one patient, and it changes what people think is possible for ultra-rare diseases.
Aprofundar
Musunuru and colleagues reported the design, manufacture, regulatory authorisation and administration of a patient-specific adenine base editor for severe CPS1 deficiency in an infant, delivered by lipid nanoparticle in two doses at seven and eight months of age, with clinical improvement and discharge.
Sources
- New England Journal of Medicine · 2025
Patient-specific in vivo gene editing to treat a rare genetic disease ↗