Journal authors explain inherited metabolic disease research, paper by paper.
JIMD Podcasts brings authors from the Journal of Inherited Metabolic Disease to the microphone to explain their research, from gene expression puzzles to consensus treatment guidelines. Interviews sit alongside Shortcasts, in which one researcher presents a single paper, so the feed moves between guided conversation and the author's own account of the work.
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JIMD Podcasts is the audio companion of the Journal of Inherited Metabolic Disease, built around the research the journal publishes and the people behind it. It runs several formats at once. At its core is an interview series in which authors take an interviewer through their paper. That interviewer is candid about what needs explaining. One introduction frames the episode as an attempt to get to grips with D-Glyceric aciduria, not as a display of expertise. The conversations can go deep into the lab. In 'D-Glyceric aciduria: is GLYCTK really mitochondrial?', a guest named Oliver works through RNA expression data across human tissues, considers whether the size of an EGFP tag affected earlier findings, and proposes that GLYCTK2 is a byproduct of splicing. Other interviews lean toward the clinic. In 'mRNA therapies in liver Inherited Metabolic Diseases', returning guests Sonam and Julian discuss treatments for severe liver disorders where transplantation has been one of the few options, including a propionic acidemia program that combines two mRNAs. 'Tyrosine Hydroxylase Deficiency: Consensus guidelines' brings Thomas, Maria and Ivana together around the guideline. The discussion covers why L-DOPA, the metabolite missing in the cerebrospinal fluid, should be the treatment of choice for children as well, and why a cheap, established drug from adult Parkinson's care was still hard to obtain for a child. Ivana, a parent, describes her daughter's diagnosis in Heidelberg and the return to Serbia, where L-DOPA was not available or covered by health insurance. That exchange shows what a guideline changes in practice. Shortcasts have one researcher present a single paper. Dr. Sophie Minoy covers the antenatal diagnosis and newborn management of two siblings with carbonic anhydrase VA deficiency, an ultra-rare condition. Dr Rory Tinker describes how his group split the diagnostic odyssey in mitochondrial disease into a suspicion phase and a diagnostic phase. Dr. Aaron Bowen reports refractory epilepsy in all three patients in a small SDHA series, along with RHADS, an EEG pattern usually linked to POLG-related disorders. The register stays technical throughout, with gene symbols, enzyme pathways and seizure types named without softening. Interviews end the same way, with a pointer to the paper and a brief 'Until next time. Goodbye.' The feed also carries research roundups, Metabolic Mysteries and Footprints in IMD, and its introductions point newcomers to episodes that try to simplify IMD or argue that everyone should know about urea cycle disorders. For a first listen, the interviews offer the guided route, while the Shortcasts suit someone who already reads the literature and wants the author's own summary.
Made for: Suits a listener comfortable with gene symbols, enzyme pathways and clinical terminology who wants inherited metabolic disease research explained by the people who did it. The interviews also suit someone newer to the field who likes an interviewer willing to ask for the plainer version.
What sets it apart: Because it is tied to a single journal, the authors of published papers explain their own findings, either in guided interviews or in author-presented Shortcasts. The guideline episode also gives airtime to a parent's account of getting treatment.
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.
A cheap medicine can still be out of reach for a child; you'll hear why the guideline matters.
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Short reviews from the PlayNext desk, based on the episodes we processed.
A consensus guideline opens into a grounded story of L-DOPA, access, and the networks behind rare-disease care.
The first international consensus guideline for tyrosine hydroxylase deficiency is framed through a practical tension: a treatment may be known, and still not be easy for a child to receive.
A clear, measured review of mRNA replacement's path from preclinical liver-disease work into clinical programs.
James Nurse's conversation with Dr. Sonam Garung and Dr. Julian Barreto tracks mRNA therapy as it moves from preclinical work into clinical programs for inherited metabolic diseases of the liver.
A rare-disease model connects impaired succinate production with reduced flux in synthesis of the precursor of hemoglobin.
Personalised metabolic modelling gives methylmalonic aciduria a broader systems view, following how disease-causing gene deletions can shift metabolic flux in patient fibroblasts. The conversation with Dr. Almut Heincken, Dr.
A global survey frames the mitochondrial cocktail as a question of evidence, geography, and clinical caution.
Current Global Vitamin and Co-Factor Prescribing Practices for Primary Mitochondrial Diseases looks at a familiar clinical reflex and asks what keeps it in place. James Nurse speaks with Dr.
A clear, humane discussion of why palliative care belongs earlier in inherited metabolic medicine.
Palliative care is treated here as part of clinical culture, rather than a service saved for the final stage. James Nurse anchors the discussion in inherited metabolic disease, where few conditions have disease-specific treatment and where palliative care has had limited direct…
A practical review of when manganese belongs in the workup, and why current chelation still feels unfinished.
Manganese is vital until its transport system breaks down, and this JMD episode turns manganese transporter disorder into a clear clinical problem.
Brain science before it becomes a headline.
This episode discusses the potential therapeutic uses of L-citrulline beyond genetic urea cycle disorders.
["The conversation centers on the first international consensus guideline for tyrosine hydroxylase deficiency, an ultra-rare dopamine biosynthesis disorder that sits between movement disorders, metabolic medicine, and developmental neurology.", "Dr Maria Sigitalina, Dr Thomas Oplodon, and Eva Badnarevich explain why the old type A/type B split is being replaced by a phenotypic continuum and why patient representation changed the guideline process.", "They walk through diagnosis with genetics and CSF biogenic amines, red flags such as hypotonia and a normal MRI, and treatment with L-DOPA plus a decarboxylase inhibitor.", "The discussion also covers early dyskinesia, access problems in Serbia and Bulgaria, multidisciplinary follow-up, prolactin monitoring, sapropterin, newborn screening, and patient-reported outcome surveys."]
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Host James interviews Dr.
Dr.
GMD podcast's 'mRNA therapies in liver Inherited Metabolic Diseases' pairs host James Nurse with Sonam Garung and Julian Barreto from the Institute of Child Health at Great Ormond Street Hospital for Children.
Dr.
JIMD Podcasts examines a paper on elamipretide in mitochondrial trifunctional protein (TFP) deficiency, featuring lead author Eduardo Vieira Netto.
JAMD Podcast's episode on personalised metabolic modelling in methylmalonic aciduria centers on the paper "personalised genome scale modelling reveals metabolic perturbations in fibroblasts of methylmalonic aciduria patients." Dr.
GMD podcast episode "Vitamin and Co-Factor Prescribing in Primary Mitochondrial Disease" follows James Nurse with Julia Neugebauer and Professor Shamima Rahman on a European Reference Network survey of real-world prescribing.
Only about 18% of inherited metabolic diseases have disease-specific treatment, which is why James Nurse frames palliative care as an underused part of IMD medicine.
James Nurse hosts Karen Tush, Sivasini Sharma, and John Spencer on manganese transporter disorders HMNDYT1 and HMNDYT2.
Professor Jean-Marie Saudubray, who retired from clinical practice in 2007, recounts three career periods in a conversation with host James and Professor Manuel Schiff of Necker Hospital.
This episode discusses movement disorders in the context of inherited metabolic diseases, featuring expert guests.
This episode discusses the frequencies of different inborn errors of metabolism in adult metabolic centres, featuring interviews with authors of a recent publication.