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A promising genetic treatment tailor-made for a baby born with a rare… | CRISPRGuru (CB Guru)
How CRISPR saved a baby’s life: a story of how science can move at unprecedented speed when lives are on the line. https://lnkd.in/gBjcvGwx In August 2024, a baby was born with a genetic mutation known to cause fatal liver disease within just a few months. But thanks to decades of foundational research, rapid collaboration across scientific disciplines, and cutting-edge gene editing technology, this child’s life may have been saved—perhaps even cured. Here's is the timeline from Diagnosis to Therapy: ~1 week old: Doctors diagnosed the baby with a lethal liver condition caused by a rare genetic mutation. ~1 month old: Scientists engineered a cell line carrying the same mutation to test whether CRISPR could correct it. Scientists screened guide RNAs and base editors to find the most effective combinations. ~2 months old: The team conducted toxicology studies in monkeys to ensure the safety of the CRISPR tools—specifically the mRNA-based base editor, guide RNAs, and lipid nanoparticle delivery systems. ~5 months old: Scientists created Transgenic mice carrying the same genetic mutation to test the CRISPR therapy in living organism. The results were promising as they showed the mutation was corrected in ~40% of liver cells. ~6 months old: Additional safety studies in mice showed no major side effects, giving confidence to move forward. ~6.5 months old: The research team submitted a request for regulatory approval. Remarkably, just one week later, the FDA granted approval. ~7 months old: The baby received the first dose of the CRISPR-based therapy. Despite simultaneous viral infections, there were early signs of improvement. ~8 months old: A second dose was administered. The baby showed further improvement, though longer-term follow-up will be essential to assess safety and effectiveness. This work was published yesterday in NEJM: https://lnkd.in/gg93Xczm The work was funded by the National Institutes of Health and other organizations. Two key lessons from this story: 1. Science saves lives—but it builds on decades of discovery. CRISPR gene editing has its roots in basic research conducted over 30 years ago. What began as curiosity-driven science has evolved—thanks to the work of hundreds of researchers—into a powerful therapeutic tool. Breakthroughs like these are only possible because of sustained investment in basic and translational research. 2. Animal models are absolutely essential in developing and testing therapies. Transgenic mice and studies in higher mammals were crucial in assessing whether the therapy could work—and whether it was safe to try in a human. Transgenic mice and animal studies remain indispensable for ensuring new treatments are both effective and safe before being used in patients.
