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PODCAST

JIMD Podcasts

Journal of Inherited Metabolic Disease

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.

science

All Episodes

00:03:01

Shortcast: Fulminant Metabolic Crisis in GSDIa:...

JIMD Podcasts ·

2026/01/27

In this Shortcast, Dr Herodes Guzman discusses a striking case series of patients with GSDIa who developed fulminant metabolic crisis with persistent lactic acidosis despite correction of hypoglycaemia, raising concern for secondary mitochondrial dysfunction. He explores how these observations challenge conventional management and suggest a future role for mitochondrial-directed surveillance and therapies in GSD care.Retrospective Case Series of Fulminant Metabolic Crisis in GSDIA: Persistent

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00:22:12

Palliative care in inherited metabolic disease: an...

JIMD Podcasts ·

2026/01/20

Only around 18% of inherited metabolic diseases have disease-specific treatments, yet palliative care remains strikingly underused. In this episode, Anja Lee and Trine Tangeraas discuss a pan-European survey exploring access, barriers, and how earlier integration of palliative care can transform support for people living with IMDs. Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care Anja Lee, et

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00:05:28

Shortcast: A Multisystem Perspective of Pediatric...

JIMD Podcasts ·

2026/01/13

Merve Yoldaş Çelik reviews pediatric cell trafficking disorders, a genetically diverse group that can mimic mitochondrial, lysosomal, and glycosylation disease. Using a 14-patient case series (including two novel variants), she highlights shared multisystem patterns and practical gene-specific clues to support a mechanism-based diagnostic approach.A Multisystem Perspective of Pediatric Cell Trafficking Disorders: Within the Cells, Beneath the Signs Merve Yoldaş Çelik, et

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00:25:56

Manganese transporter disorders: diagnosis and treatment

JIMD Podcasts ·

2026/01/06

In this episode of the JIMD Podcast, we explore manganese transporter disorders with Dr Karin Tuschl, Dr Suvasini Sharma and Prof John Spencer, covering clinical red flags, MRI clues, EDTA chelation, and the urgent search for safer, oral treatments for hypermanganesemia with dystonia.Consensus of Expert Opinion for the Diagnosis and Management of Hypermanganesaemia With Dystonia 1 and 2 Sherry Fang, et al https://doi.org/10.1002/jimd.70031 Removal of Toxic Metabolites—Chelation: Manganese

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00:04:23

Shortcast: Liver Directed Rx don’t change...

JIMD Podcasts ·

2025/12/30

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

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00:50:10

Sixty Years of Metabolic Medicine: A Conversation...

JIMD Podcasts ·

2025/12/23

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

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00:29:35

Continuous Glucose Monitoring in hepatic GSDs

JIMD Podcasts ·

2025/12/16

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

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00:07:38

Metabolic mysteries: Developmental delay,...

JIMD Podcasts ·

2025/12/09

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

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00:25:32

Biomarkers in Niemann-Pick type C: Preparing for...

JIMD Podcasts ·

2025/12/02

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

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00:06:08

Shortcast: Exploratory Study on the Challenges of...

JIMD Podcasts ·

2025/11/25

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

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00:25:22

Chenodeoxycholic acid in Cerebrotendinous Xanthomatosis

JIMD Podcasts ·

2025/11/18

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

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00:37:38

IMD Research Round-Up: Mitochondrial disease

JIMD Podcasts ·

2025/11/11

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

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00:47:40

First in human gene editing: a new era for IMD therapies

JIMD Podcasts ·

2025/11/04

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,

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00:08:24

Metabolic mysteries: A 61-year-old with...

JIMD Podcasts ·

2025/10/28

Dr Samuel Mackenzie discusses the perplexing presentation of a 61-year-old man with rhabdomyolysis and a prolonged QT interval. Further exploration reveals a lifetime of episodic fatigue with illnesses.https://doi.org/10.1016/j.ymgmr.2025.101241

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00:25:51

Geriatric IMD: Diagnosing inherited metabolic...

JIMD Podcasts ·

2025/10/21

Inherited metabolic diseases aren’t just for the young. James Nurse talks with François Maillot and Ida Schwartz about their systematic review revealing how IMDs can first be diagnosed well into older age. From Fabry disease to alkaptonuria, they discuss diagnostic delays, missed clues, and why it’s time to think about geriatric metabolic medicine. Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review Maria-Rita Moio, et

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00:43:23

IMD Research Round-Up: Untargeted metabolomics

JIMD Podcasts ·

2025/10/14

With Rodrigo off caring for sick children, James Nurse joins Silvia Radenkovic to speak with Dr Judith Jans and Dr Devin Oglesbee about the emerging field of untargeted metabolomics. Authors’ opinions are their own and do not represent their institutions. Referenced papers include: Miller MJ, et al The emerging role of metabolomics analysis in genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2025 Jul

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00:18:32

Pharmacological chaperones in OTC deficiency

JIMD Podcasts ·

2025/10/07

Can small molecules stabilise OTC enzyme activity and change the outlook for urea cycle disorders? Dr Alexander Laemmle (University Hospital Bern) discusses pharmacological chaperones, a novel approach that strengthens enzyme stability in patient-derived liver models and offers new hope for female OTC carriers.Novel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient-Derived Liver Disease Models Adhuresa Ramosaj,

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00:09:01

Shortcast: Clinical and Developmental Outcomes after...

JIMD Podcasts ·

2025/09/30

Shortcast: Clinical and Developmental Outcomes after 50 Years of Galactosaemia NBS in Ireland by Journal of Inherited Metabolic Disease

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00:26:57

Penetrance, expressivity, and outcomes in classic...

JIMD Podcasts ·

2025/09/23

In this episode we discuss new insights into the variability of long-term outcomes in classic galactosemia. Joining me are Nikki Smith, Olivia Garrett, and Judy Fridovich-Keil, who together explore how complications in cognitive, motor, and speech domains emerge, cluster, and vary in severity across patients. Their study highlights both patterns and unanswered questions, illustrating the challenges families face and the importance of refining prognostic tools.Patterns of Penetrance and

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00:37:59

IMD Research Round-Up: Lysosomal Storage Disorders

JIMD Podcasts ·

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

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252 results

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