41 episodes

A fortnightly podcast from the Journal of Inherited Metabolic Disease, where authors discuss recent publications from the journal. The podcast is intended for specialists and interested clinicians but is also intended to increase the accessibility of this work for patients and families. Supported by Wiley.

JIMD Podcasts Journal of Inherited Metabolic Disease

    • Science
    • 5.0 • 3 Ratings

A fortnightly podcast from the Journal of Inherited Metabolic Disease, where authors discuss recent publications from the journal. The podcast is intended for specialists and interested clinicians but is also intended to increase the accessibility of this work for patients and families. Supported by Wiley.

    Positive Negatives - genistein and resveratrol

    Positive Negatives - genistein and resveratrol

    The first podcast of 2022 discusses two papers with negative outcomes and explores the importance of sharing such results for patients and families and clinicians working with rare disease. Dr Nicoline Løkken discusses her work with resveratrol in mitochondrial myopathies (from 5m 18s) and Dr Arunabha Ghosh and Professor Brian Bigger talk about the use of genistein in Sanfilippo syndrome (from 10m 38s).


    No effect of resveratrol in patients with mitochondrial myopathy: A cross-over randomized controlled trial
    Nicoline Løkken, et al
    https://doi.org/10.1002/jimd.12393

    High dose genistein in Sanfilippo syndrome: A randomised controlled trial
    Arunabha Ghosh, et al
    https://doi.org/10.1002/jimd.12407

    • 29 min
    100 Years Of IMD (in Austria)

    100 Years Of IMD (in Austria)

    Dr Gabriele Ramoser, Dr Federica Caferri, Dr Sabine Scholl-Bürgi and Dr Daniela Karall joined the podcast to discuss their recent work looking at the Austrian "Registry for Inherited Metabolic Disorders". We spoke about the importance of patient registries, variable prevalence rates and the difficulties around where to care for adults with IMD.

    100 years of inherited metabolic disorders in Austria—A national registry of minimal birth prevalence, diagnosis, and clinical outcome of inborn errors of metabolism in Austria between 1921 and 2021
    Gabriele Ramoser, et al
    https://doi.org/10.1002/jimd.12442

    • 14 min
    Mitochondrial Disease Special Issue: Novel Therapies

    Mitochondrial Disease Special Issue: Novel Therapies

    In March 2021 our special issue look at all aspects of Mitochondrial Disease. In this special episode Professor Shamima Rahman guest hosts as we welcome David Dimmock, Mike Lawlor, Guilhian Leipnitz and Marc Patterson to discuss their papers from that issue, looking at novel therapies in mitochondrial disease.

    For those skipping: DGUOK (from 3min 30sec), SO deficiency (from 19min) and Friedreich's Ataxia (29min 10sec).


    The nucleotide prodrug CERC-913 improves mtDNA content in primary hepatocytes from DGUOK-deficient rats
    Vanden Avond, et al
    https://doi.org/10.1002/jimd.12354

    The mitochondrial-targeted reactive species scavenger JP4-039 prevents sulfite-induced alterations in antioxidant defenses, energy transfer, and cell death signaling in striatum of rats
    Glänzel, et al
    https://doi.org/10.1002/jimd.12310

    Safety and efficacy of (+)-epicatechin in subjects with Friedreich's ataxia: A phase II, open-label, prospective study
    Qureshi, et al
    https://doi.org/10.1002/jimd.12285

    • 41 min
    Organoids in IMD

    Organoids in IMD

    Associate Professor Sabine Fuchs and PhD Candidate Vivian Lehmann join the podcast to explain cholangiocyte organoids and the role they play in understanding rare disease and testing new treatments.

    The potential and limitations of intrahepatic cholangiocyte organoids to study inborn errors of metabolism
    Vivian Lehmann, et al
    https://doi.org/10.1002/jimd.12450

    • 15 min
    MPS 1: Where are we now?

    MPS 1: Where are we now?

    Dr Sandra Kingma from the Centre for Rare Diseases in Antwerp joins the podcast to discuss all things Mucopolysaccharidosis type I. Her recent paper asks 'where are we now?' and I asked her about where we are going next?

    MPS I: Early diagnosis, bone disease and treatment, where are we now?
    Sandra D. K. Kingma, An I. Jonckheere,
    First published: 03 September 2021 https://doi.org/10.1002/jimd.12431

    • 14 min
    Easy as ABC...D3

    Easy as ABC...D3

    The podcast is joined by the wonderful Dr Sander Houten and Dr Pablo Ranea-Robles who explain their recent working looking at the ATP binding cassette ABCD3 in dicarboxylic fatty acid metabolism.

    The peroxisomal transporter ABCD3 plays a major role in hepatic dicarboxylic fatty acid metabolism and lipid homeostasis
    Pablo Ranea-Robles et al
    https://doi.org/10.1002/jimd.12440

    • 18 min

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