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Home > Emergency Medical Minute > Podcast 993: Personalized Gene Editing Therapy
Podcast: Emergency Medical Minute
Episode:

Podcast 993: Personalized Gene Editing Therapy
Category: Science & Medicine
Duration: 00:06:32
Publish Date: 2026-02-09 10:00:00
Description:

Contributor: Alec Coston, MD

Educational Pearls:

Disclaimer: this has nothing to do with the ER but is too cool to not talk about.

  • Condition: Carbamoyl phosphate synthetase 1 (CPS1) deficiency

    • Rare inborn error of metabolism

    • Inability to properly break down ammonia

    • Leads to severe hyperammonemia and hepatic encephalopathy

  • Natural history:

    • Without treatment, typically fatal within the first few weeks of life

    • Even with current standard treatments, life expectancy is often limited to ~5–6 years

  • Breakthrough treatment:

    • A team of researchers at the Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania developed the CRISPR-based targeted gene therapy for this patient.

    • First-of-its-kind precision approach tailored to the patient's specific mutation

  • Key components of the therapy:

    • Whole-genome sequencing to identify the exact CPS1 mutation

    • Creation of a custom base-editing enzyme designed to correct that specific mutation

    • Design of a guide RNA to direct the base editor to the precise genomic location

  • Delivery method:

    • Lipid nanoparticles used to deliver the gene-editing machinery

    • Nanoparticles can be targeted to specific tissues

  • Why the liver works well:

    • CPS1 is primarily expressed in hepatocytes

    • The liver is relatively easy to target with lipid nanoparticles

    • Hepatocytes divide frequently, allowing edited genes to be passed on as cells replicate

  • Long-term impact:

    • Once edited, cells continue producing functional CPS1 enzyme

    • Potential for durable, possibly lifelong correction from a single treatment

References

Summarized and edited by Jeffrey Olson MS4

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