{"podcast":{"title":"Emergency Medical Minute","slug":"emergency-medical-minute-972156","podcast_index_feed_id":972156,"rss_url":"https://emergencymedicalminute.libsyn.com/rss","website_url":"https://www.emergencymedicalminute.com","image_url":"https://static.libsyn.com/p/assets/a/1/8/d/a18d8754552711ef/EMM_Logo_w_Black_Background.png","author":"medicalminute","episode_count":1161,"summary":"Our near daily podcasts move quickly to reflect current events, are inspired by real patient care, and speak to the true nature of what it's like to work in the Emergency Room or Pre-Hospital Setting. Each medical minute is recorded in a real emergency department, by the emergency physician or clinical pharmacist on duty – the ER is our studio and everything is live.","last_synced_at":null,"page_url":"https://stenobird.com/podcast/emergency-medical-minute-972156"},"episode":{"title":"Podcast 993: Personalized Gene Editing Therapy","slug":"podcast-993-personalized-gene-editing-therapy","published_at":"2026-02-09T10:00:00+00:00","page_url":"https://stenobird.com/podcast/emergency-medical-minute-972156/podcast-993-personalized-gene-editing-therapy","show_page_url":"https://stenobird.com/podcast/emergency-medical-minute-972156","url":"https://emergencymedicalminute.libsyn.com/podcast-993-personalized-gene-editing-therapy","audio_url":"https://traffic.libsyn.com/secure/emergencymedicalminute/Coston_MM_final.mp3?dest-id=465437","summary":"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 https://www.nih.gov/news-events/news-releases/infant-rare-incurable-disease-first-successfully-receive-personalized-gene-therapy-treatment Choi Y, Oh A, Lee Y, Kim GH, Choi JH, Yoo HW, Lee BH. Unfavorable clinical outcomes…","meta_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 ph…","key_points":[],"chapters":[],"topics":[],"duration_seconds":392,"processing_state":"not_requested","actions":[{"name":"request_transcript","method":"POST","url":"https://stenobird.com/v1/public/podcasts/emergency-medical-minute-972156/episodes/podcast-993-personalized-gene-editing-therapy/transcription-requests","description":"Idempotently request low-priority transcript generation for this episode."},{"name":"read_markdown","method":"GET","url":"https://stenobird.com/podcast/emergency-medical-minute-972156/podcast-993-personalized-gene-editing-therapy.md","description":"Read the agent-friendly Markdown representation of this episode resource."}]}}