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JIMD Podcasts
Journal of Inherited Metabolic Disease
236 episodes
2 days ago
Here’s a polished podcast blurb suitable for LinkedIn, BlueSky, or Apple Podcasts listings — written in the JIMD Podcast tone and style: ⸻ It’s one of the most talked-about breakthroughs of 2025, a first-in-human demonstration of in vivo gene editing to treat an inherited metabolic disease. In this episode, Kiran Musunuru and Rebecca Ahrens-Nicklas are joined by Julien Baruteau to unpack what this means for the field. They explore the science behind gene editing, the importance of ethical design, and the emotional weight of stopping therapy once enzyme function is restored. The conversation bridges the NEJM landmark paper (Musunuru et al., 2025) and the accompanying JIMD editorial (Rahman & Baruteau, 2025), reflecting on what this moment tells us about the future of metabolic medicine and how ready we are for it. First in Human Gene Editing for an Inherited Metabolic Disease Shamima Rahman, Julien Baruteau https://doi.org/10.1002/jimd.70056 Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease Kiran Musunuru, et al https://www.nejm.org/doi/10.1056/NEJMoa2504747
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All content for JIMD Podcasts is the property of Journal of Inherited Metabolic Disease and is served directly from their servers with no modification, redirects, or rehosting. The podcast is not affiliated with or endorsed by Podjoint in any way.
Here’s a polished podcast blurb suitable for LinkedIn, BlueSky, or Apple Podcasts listings — written in the JIMD Podcast tone and style: ⸻ It’s one of the most talked-about breakthroughs of 2025, a first-in-human demonstration of in vivo gene editing to treat an inherited metabolic disease. In this episode, Kiran Musunuru and Rebecca Ahrens-Nicklas are joined by Julien Baruteau to unpack what this means for the field. They explore the science behind gene editing, the importance of ethical design, and the emotional weight of stopping therapy once enzyme function is restored. The conversation bridges the NEJM landmark paper (Musunuru et al., 2025) and the accompanying JIMD editorial (Rahman & Baruteau, 2025), reflecting on what this moment tells us about the future of metabolic medicine and how ready we are for it. First in Human Gene Editing for an Inherited Metabolic Disease Shamima Rahman, Julien Baruteau https://doi.org/10.1002/jimd.70056 Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease Kiran Musunuru, et al https://www.nejm.org/doi/10.1056/NEJMoa2504747
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Science
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Geriatric IMD: Diagnosing inherited metabolic disorders in older adults
JIMD Podcasts
25 minutes 51 seconds
2 weeks ago
Geriatric IMD: Diagnosing inherited metabolic disorders in older adults
Inherited metabolic diseases aren’t just for the young. James Nurse talks with François Maillot and Ida Schwartz about their systematic review revealing how IMDs can first be diagnosed well into older age. From Fabry disease to alkaptonuria, they discuss diagnostic delays, missed clues, and why it’s time to think about geriatric metabolic medicine. Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review Maria-Rita Moio, et al https://doi.org/10.1002/jimd.70038
JIMD Podcasts
Here’s a polished podcast blurb suitable for LinkedIn, BlueSky, or Apple Podcasts listings — written in the JIMD Podcast tone and style: ⸻ It’s one of the most talked-about breakthroughs of 2025, a first-in-human demonstration of in vivo gene editing to treat an inherited metabolic disease. In this episode, Kiran Musunuru and Rebecca Ahrens-Nicklas are joined by Julien Baruteau to unpack what this means for the field. They explore the science behind gene editing, the importance of ethical design, and the emotional weight of stopping therapy once enzyme function is restored. The conversation bridges the NEJM landmark paper (Musunuru et al., 2025) and the accompanying JIMD editorial (Rahman & Baruteau, 2025), reflecting on what this moment tells us about the future of metabolic medicine and how ready we are for it. First in Human Gene Editing for an Inherited Metabolic Disease Shamima Rahman, Julien Baruteau https://doi.org/10.1002/jimd.70056 Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease Kiran Musunuru, et al https://www.nejm.org/doi/10.1056/NEJMoa2504747