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JIMD Podcasts

JIMD Podcasts

著者： Journal of Inherited Metabolic Disease
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 JIMD Podcasts is home to the Journal of Inherited Metabolic Disease podcast and the JIMD Shortcast. We're also proud to showcase Metabolic Mysteries and the new Footprints in IMD podcast.All rights reserved 科学
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  • IMD Research Round-Up: Lysosomal Storage Disorders

    IMD Research Round-Up: Lysosomal Storage Disorders
    2025/09/16
    Silvia and Rodrigo are joined by Dr Ray Wang, Director of the multidisciplinary Foundation of Caring Lysosomal Storage Disorder Program at the Children's Hospital of Orange County. Silvia asks Dr Wang and Rodrigo (who also happens to be a researcher in this field) about cutting-edge advances in LSD research: from base editing in Pompe disease and patient-specific in vivo gene editing, to new biomarkers and scoring systems in Gaucher disease, insights into lipid dysregulation across lysosomal storage disorders, and the first clinical trial of anakinra in Sanfilippo syndrome. Papers discussed include: Christensen CL, et al Base editing rescues acid α-glucosidase function in infantile-onset Pompe disease patient-derived cells. Mol Ther Nucleic Acids. 2024 May 21;35(2):102220. doi: 10.1016/j.omtn.2024.102220. PMID: 38948331; PMCID: PMC11214518. Starosta RT, et al Predicting liver fibrosis in Gaucher disease: Investigation of contributors and development of a clinically applicable Gaucher liver fibrosis score. Mol Genet Metab. 2025 Feb;144(2):109010. doi: 10.1016/j.ymgme.2025.109010. Epub 2025 Jan 3. PMID: 39788861. Kell P, et al Secondary accumulation of lyso-platelet activating factors in lysosomal storage diseases. Mol Genet Metab. 2025 Jun 17;145(4):109180. doi: 10.1016/j.ymgme.2025.109180. Polgreen LE, et al Anakinra in Sanfilippo syndrome: a phase 1/2 trial. Nat Med. 2024 Sep;30(9):2473-2479. doi: 10.1038/s41591-024-03079-3. Epub 2024 Jun 21. Erratum in: Nat Med. 2024 Sep;30(9):2693. doi: 10.1038/s41591-024-03207-z. Musunuru K, et al Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease. N Engl J Med. 2025 Jun 12;392(22):2235-2243. doi: 10.1056/NEJMoa2504747.
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    38 分
  • Adenosine Kinase

    Adenosine Kinase
    2025/09/09
    What if one enzyme could link metabolism, epigenetics, and therapy across conditions as diverse as epilepsy, cancer, and inflammation? In this episode, we dive into the fascinating world of adenosine kinase (ADK), an ancient enzyme that controls adenosine levels, energy balance, and even DNA methylation. Dr Detlev Boison join us to discuss their recent review in the Journal of Inherited Metabolic Disease, which reframes ADK not just as a metabolic regulator, but as a potential epigenetic drug target. From seizure suppression to cancer immunology, ADK sits at a crossroads, and could be a future key to metabolic and epigenetic medicine. Adenosine Kinase: An Epigenetic Modulator and Drug Target Uchenna Peter-Okaka, Detlev Boison https://doi.org/10.1002/jimd.70033
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    24 分
  • Footprints of IMD: Movement Disorders... with Dakota Peacock and Darius Ebrahimi-Fakhari

    Footprints of IMD: Movement Disorders... with Dakota Peacock and Darius Ebrahimi-Fakhari
    2025/09/02
    The first updated Footprints article requires two guests to do it justice - Dr Dakota Peacock and Dr Darius Ebrahimi-Fakhari join Eva Morava to discuss movement disorders in Inherited Metabolic Disease. Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2025.109084 Find IMDs associated with psychiatric presentations at: https://www.iembase.org/gamuts/store/docs/Movement_disorders_update.pdf
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    21 分
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