JIMD Podcasts

Journal of Inherited Metabolic Disease
  • 5.0 (10)
  • SCIENCE
  • UPDATED SEMIMONTHLY

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.

  1. Shortcast: Liver Directed Rx don’t change biochemistry nor Leukodystrophy in Biallelic HMBS Variants

    5D AGO

    Shortcast: Liver Directed Rx don’t change biochemistry nor Leukodystrophy in Biallelic HMBS Variants

    Dr Jeremy Clark unpacks why leukodystrophy caused by biallelic HMBS variants does not respond to liver transplantation or hepatically targeted therapies, pointing instead to CNS-driven porphyrin toxicity and a need for entirely new management approaches. Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic HMBS Variants: A Case Report Jeremy Clark, et al https://doi.org/10.1002/jmd2.70056

    4 min
  2. Sixty Years of Metabolic Medicine: A Conversation with Jean-Marie Saudubray and Manuel Schiff

    12/23/2025

    Sixty Years of Metabolic Medicine: A Conversation with Jean-Marie Saudubray and Manuel Schiff

    Join us for a rare conversation with Professors Jean-Marie Saudubray and Manuel Schiff as they reflect on six decades of progress in inherited metabolic diseases, from the earliest chromatograms to the dawn of genomic medicine. This episode explores the discoveries, collaborations, and human stories that shaped the field and continue to guide its future. A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback Jean-Marie Saudubray, Manuel Schiff https://doi.org/10.1002/jimd.70063

    50 min
  3. Continuous Glucose Monitoring in hepatic GSDs

    12/16/2025

    Continuous Glucose Monitoring in hepatic GSDs

    In this episode of the JIMD Podcast, Terry G. J. Derks, Alessandro Rossi, Sarah C. Grünert and Yunkoo Kang talk about the evolving role of continuous glucose monitoring (CGM) in liver glycogen storage diseases. The conversation spans international consensus on CGM use and an exciting deep-learning approach to predicting hypoglycaemia, pointing towards more personalised and preventive care for people living with GSD. State of the Art and Consensus Statements by Healthcare Providers, Patients, and Caregivers on Continuous Glucose Monitoring in Liver Glycogen Storage Diseases Terry G. J. Derks, et al https://doi.org/10.1002/jimd.70040 and A deep learning approach for blood glucose monitoring and hypoglycemia prediction in glycogen storage disease Ji Seung Ryu, et al https://www.nature.com/articles/s41598-025-97391-8

    30 min
  4. Metabolic mysteries: Developmental delay, hepatoblastoma and a VUS

    12/09/2025

    Metabolic mysteries: Developmental delay, hepatoblastoma and a VUS

    A child with severe developmental delay and an early-onset tumour sets the stage for a remarkable case of genetic investigation. In this episode, Sally Ann Lynch and Alfonso D’Alessio uncover how functional testing transformed an uncertain variant into a key diagnostic insight. Read the article: https://doi.org/10.1002/ajmg.a.64275

    8 min
  5. Biomarkers in Niemann-Pick type C: Preparing for Clinical Trials

    12/02/2025

    Biomarkers in Niemann-Pick type C: Preparing for Clinical Trials

    Krista Casazza talks about validating key biomarkers in Niemann-Pick type C and why they are essential for future clinical trials and regulatory approval. The discussion focuses on emerging candidates such as 24-hydroxycholesterol, neurofilament light chain, and calbindin-D, alongside the urgent need for data harmonisation and collaboration across the NPC community. Biomarker Validation in NPC1: Foundations for Clinical Trials and Regulatory Alignment Krista Casazza, et al https://doi.org/10.1002/jimd.70075

    26 min
  6. Shortcast: Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders

    11/25/2025

    Shortcast: Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders

    In this JIMD Shortcast, Allyson Terrell and Katie Sapp explore the real-world challenges of newborn screening for lysosomal storage disorders, based on a survey of healthcare professionals working at the front line of implementation. The study highlights the limitations of single-tier screening, the value of multi-tier testing, and the growing importance of multidisciplinary collaboration to improve diagnostic clarity and patient outcomes. Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for Multitier Testing and Collaborative Approaches to Management A. Terrell, et al https://doi.org/10.1002/jmd2.70027

    6 min
  7. Chenodeoxycholic acid in Cerebrotendinous Xanthomatosis

    11/18/2025

    Chenodeoxycholic acid in Cerebrotendinous Xanthomatosis

    A nationwide CTX study, a critical treatment window, and a conversation with the lead author. Dr Tanyel Zübarioğlu joins the JIMD Podcast to unpack the long-term impact of CDCA therapy and why timing matters more than ever. Long-Term Outcomes of Chenodeoxycholic Acid Therapy for Cerebrotendinous Xanthomatosis: A Nationwide Study on Prognostic Factors and Treatment Tanyel Zubarioglu, et al https://doi.org/10.1002/jimd.70069 Editorial Comment to Regulatory News Carla E. M. Hollak, Natalja Bouwhuis https://doi.org/10.1002/jimd.70071

    25 min
  8. IMD Research Round-Up: Mitochondrial disease

    11/11/2025

    IMD Research Round-Up: Mitochondrial disease

    The Research Round-Up returns! Hosts Silvia Radenkovic and Rodrigo Starosta are joined by Dr Hilary Vernon and Dr Austin Larson for a deep dive into the latest discoveries in mitochondrial disease. Together they explore how new biomarkers like FGF21 and GDF15 are reshaping diagnosis, how multi-omics approaches are accelerating precision care, and what large-scale data from gnomAD to stem-cell models is revealing about disease mechanisms and therapeutic opportunities. A lively, expert-led discussion connecting science, diagnostics, and patient impact across the mitochondrial field. Laricchia KM, et al Mitochondrial DNA variation across 56,434 individuals in gnomAD. Genome Res. 2022 Mar;32(3):569-582. doi: 10.1101/gr.276013.121. Epub 2022 Jan 24. PMID: 35074858; PMCID: PMC8896463. Liu O, et al FGF21 and GDF15 are elevated in Barth Syndrome and are correlated to important clinical measures. Mol Genet Metab. 2023 Nov;140(3):107676. doi: 10.1016/j.ymgme.2023.107676. Epub 2023 Aug 2. PMID: 37549445. Van Hove JLK, et al Protein biomarkers GDF15 and FGF21 to differentiate mitochondrial hepatopathies from other pediatric liver diseases. Hepatol Commun. 2024 Jan 5;8(1):e0361. doi: 10.1097/HC9.0000000000000361. Erratum in: Hepatol Commun. 2024 Jan 29;8(2):e0390. doi: 10.1097/HC9.0000000000000390. PMID: 38180987; PMCID: PMC10781130. Starosta RT, et al An integrated multi-omics approach allowed ultra-rapid diagnosis of a deep intronic pathogenic variant in PDHX and precision treatment in a neonate critically ill with lactic acidosis. Mitochondrion. 2024 Nov;79:101973. doi: 10.1016/j.mito.2024.101973. Epub 2024 Oct 15. PMID: 39413893; PMCID: PMC11578067. Jain IH, et al Hypoxia as a therapy for mitochondrial disease. Science. 2016 Apr 1;352(6281):54-61. doi: 10.1126/science.aad9642. Epub 2016 Feb 25. PMID: 26917594; PMCID: PMC4860742 Sandlers Y, et al Metabolomics Reveals New Mechanisms for Pathogenesis in Barth Syndrome and Introduces Novel Roles for Cardiolipin in Cellular Function. PLoS One. 2016 Mar 25;11(3):e0151802. doi: 10.1371/journal.pone.0151802. PMID: 27015085; PMCID: PMC4807847. Sniezek Carney O, et al. Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth syndrome. Hum Mol Genet. 2025 Jan 23;34(1):101-115. doi: 10.1093/hmg/ddae152. PMID: 39535077; PMCID: PMC11756277.

    38 min
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About

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.

Information

  • Creator
    Journal of Inherited Metabolic Disease
  • Years Active
    2020 - 2025
  • Episodes
    244
  • Rating
    Clean
  • Copyright
    © All rights reserved
  • Show Website
    JIMD Podcasts

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