🧬 Historic First: Infant with Rare Genetic Disease Successfully Treated Using Personalized Gene Therapy
In a groundbreaking achievement for precision medicine, researchers have successfully delivered a customized gene-editing therapy to treat an infant diagnosed with carbamoyl phosphate synthetase 1 (CPS1) deficiency—a rare and fatal metabolic disorder. This marks the first time a gene-editing therapy has been designed, developed, and safely administered to a human patient within just six months of diagnosis.
🔬 Key Highlights:
CPS1 deficiency impairs the urea cycle, leading to toxic ammonia buildup in the body—often fatal in early life.
Scientists used a cutting-edge gene-editing platform to create a personalized treatment tailored to the infant's unique genetic mutation.
The patient has responded positively to therapy, offering hope to families affected by other ultra-rare, life-threatening disorders.
The platform is modular and adaptable to other genetic diseases, opening a new era for personalized, rapid-response therapeutics.
DrOmics Labs Pvt Ltd
🧬 Historic First: Infant with Rare Genetic Disease Successfully Treated Using Personalized Gene Therapy
In a groundbreaking achievement for precision medicine, researchers have successfully delivered a customized gene-editing therapy to treat an infant diagnosed with carbamoyl phosphate synthetase 1 (CPS1) deficiency—a rare and fatal metabolic disorder. This marks the first time a gene-editing therapy has been designed, developed, and safely administered to a human patient within just six months of diagnosis.
🔬 Key Highlights:
CPS1 deficiency impairs the urea cycle, leading to toxic ammonia buildup in the body—often fatal in early life.
Scientists used a cutting-edge gene-editing platform to create a personalized treatment tailored to the infant's unique genetic mutation.
The patient has responded positively to therapy, offering hope to families affected by other ultra-rare, life-threatening disorders.
The platform is modular and adaptable to other genetic diseases, opening a new era for personalized, rapid-response therapeutics.
📖 To learn more, read the peer-reviewed publication in The New England Journal of Medicine:
DOI: 10.1056/NEJMoa2504747
NIH press release: www.nih.gov/news-events/news-releases/infant-rare-…
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3 months ago | [YT] | 0