Plain English with Derek Thompson The Gene-Editing Breakthrough That Saved a Baby’s Life
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May 23, 2025 
Dr. Kiran Musunuru, a gene-editing researcher at the University of Pennsylvania, shares an inspiring story about baby KJ, the first patient to receive personalized gene-editing therapy for a rare genetic condition. They discuss the urgency and complexity of developing this life-saving treatment, emphasizing the collaborative efforts among researchers. Musunuru explains the potential of gene therapy for rare diseases and the hurdles faced in advancing these technologies. The conversation highlights the transformative power of personalized medicine and the need for continued research funding.
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KJ Muldoon’s Historic Gene Edit
- KJ Muldoon was born with a rare genetic mutation causing a lethal ammonia buildup.
- He became the first patient to receive a personalized gene-editing medicine tailored just for him.
Understanding CPS1 Deficiency
- CPS1 deficiency disables an enzyme that clears toxic ammonia from the blood.
- Untreated ammonia buildup causes brain injury, feeding difficulty, and developmental delay.
Urgent Call Sparks Gene Therapy
- Kiran Musunuru received an urgent email about KJ's genetic mutation.
- He and his team rapidly designed a therapy to reverse a single DNA letter to fix the enzyme defect.