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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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IMD Research Round-Up: Glycogen Storage Disorders
JIMD Podcasts
32 minutes 51 seconds
3 months ago
IMD Research Round-Up: Glycogen Storage Disorders
In this episode, Dr Joost Groen, a clinical biochemist at the University Medical Center Groningen, and Dr Matt Gentry, Professor & Chair of Biochemistry & Molecular Biology in the College of Medicine at University of Florida, join Rodrigo and Silvia to discuss new insights, AI, cancer metabolism and some of their favourite papers on Glycogen Storage Disorders. Authors opinions are their own and do not represent their institutions. GSD episode papers: Brain glycogen serves as a critical glucosamine cache required for protein glycosylation. Sun et al A machine learning model accurately identifies glycogen storage disease Ia patients based on plasma acylcarnitine profiles. Groen et al Small-molecule inhibition of glycogen synthase 1 for the treatment of Pompe disease and other glycogen storage disorders. Ullman et al Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin. Overduin et al Gross-Valle The relation between dietary polysaccharide intake and urinary excretion of tetraglucoside. Gross-Valle et al Glycogen drives tumour initiation and progression in lung adenocarcinoma. Clarke HA et al Spatial metabolomics reveals glycogen as an actionable target for pulmonary fibrosis. Conroy et al In situ mass spectrometry imaging reveals heterogeneous glycogen stores in human normal and cancerous tissues. Young et al Glycogen accumulation modulates life span in a mouse model of amyotrophic lateral sclerosis. Brewer et al Dynamics of cognitive variability with age and its genetic underpinning in NIHR BioResource Genes and Cognition cohort participants. Rahman MS et al Neurological glycogen storage diseases and emerging therapeutics Colpaert et al
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