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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

00:47:40

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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00:23:40

Adenosine Kinase

JIMD Podcasts ·

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

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00:20:37

Footprints of IMD: Movement Disorders... with Dakota...

JIMD Podcasts ·

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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00:05:55

Metabolic mysteries: Incidental adrenal...

JIMD Podcasts ·

2025/08/26

A newborn with no symptoms, an unexpected X-ray finding, and a puzzle that points in many possible directions. Follow Dr. Tolulope Tolufase as he unpacks a neonatal case where incidental adrenal calcifications conceal a far deeper mystery.Read the full report here: https://doi.org/10.1136/bcr-2025-265278

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00:31:13

The treatment landscape in CDG

JIMD Podcasts ·

2025/08/19

In this episode, we speak with Irena Muffels and Eva Morava about their recent review, The Therapeutic Future for Congenital Disorders of Glycosylation. We explore the three pillars they propose for advancing CDG treatment: improving disease models, enhancing clinical trial readiness, and finding scalable strategies that move us beyond one-gene-at-a-time approaches. From patient-derived brain organoids to AI-powered outcome assessments and the promise of basket trials, this conversation is a

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00:45:14

IMD Research Round-Up: Newborn Screening

JIMD Podcasts ·

2025/08/12

In this episode, Prof Chris Vorster (Director, Centre for Human Metabolomics, North-West University, South Africa), Sarah Viall (Assistant Professor, Molecular and Medical Genetics, Oregon Health & Science University, USA) and PD Dr. med. Ulrike Mütze (Consultant, Heidelberg University Hospital, Germany) join Silvia Radenkovic and Rodrigo Starosta to explore the evolving landscape of newborn screening. They discuss national and international variations in practice, how to maintain consistency and

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00:20:55

ARS1 Deficiencies

JIMD Podcasts ·

2025/08/05

In this episode, Sabine Fuchs and Eva Hoytema discuss their recent work exploring the expanding clinical spectrum of aminoacyl-tRNA synthetase deficiencies, highlighting diagnostic challenges and emerging insights into this complex group of rare disorders.Setting the Stage for Treatment of Aminoacyl-tRNA Synthetase (ARS)1-Deficiencies: Phenotypic Characterization and a Review of Treatment Effects Eva M. M. Hoytema van Konijnenburg, et al https://doi.org/10.1002/jimd.70017

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00:04:22

Shortcast: Investigating the utility of leukocyte...

JIMD Podcasts ·

2025/07/29

Marya Sabir shares new insights into the utility of leukocyte sialic acid levels as a diagnostic and monitoring tool in free sialic acid storage disorder. Investigating the Utility of Leukocyte Sialic Acid Measurements in Lysosomal Free Sialic Acid Storage Disorder Marya S. Sabir, et al https://doi.org/10.1002/jmd2.70029

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00:21:31

Diagnostic delay in Metachromatic Leukodystrophy

JIMD Podcasts ·

2025/07/22

Dr Laura Adang returns to the podcast, this time discussing diagnostic delays in early onset forms of metachromatic leukodystrophy and explains why the only logical route to prompt diagnosis is newborn screening and how gene therapy might lead to a 'normal' life for children, if only we can find them early enough.Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real-World Data Approach Ali Mohajer, et al https://doi.org/10.1002/jimd.70049

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00:32:51

IMD Research round-up: Glycogen Storage Disorders

JIMD Podcasts ·

2025/07/15

In this episode, Dr Joost Groen, a clinical biochemist at the University Medical Center Groningen, and Dr Matt Gentry, Professor & Chair of Biochemistry & Molecular Biology in the College of Medicine at University of Florida, join Rodrigo and Silvia to discuss new insights, AI, cancer metabolism and some of their favourite papers on Glycogen Storage Disorders. Authors opinions are their own and do not represent their institutions. GSD episode papers: Brain glycogen serves as a critical

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00:33:35

Future therapies in galactosemia

JIMD Podcasts ·

2025/07/08

In this latest episode, we explore what's next for treating classic galactosemia. The discussion is anchored in two fascinating recent publications, including the wide-angle perspective from “Reshaping the Treatment Landscape of a Galactose Metabolism Disorder” and a deep dive into something delightfully unexpected: purple sweet potato color (PSPC) as a therapeutic strategy. Yes, purple sweet potatoes. Who knew?We’re joined by familiar voices Estela Rubio-Gozalbo and Kent Lai, alongside first-time

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00:08:25

Metabolic mysteries: GI bleeding, gallbladder polyps...

JIMD Podcasts ·

2025/07/01

Dr JP Stevens shares the mystery of a 5-year-old boy presenting with severe gastrointestinal bleeding and cholestasis. Inpatient investigation reveals gallbladder polyps and, on assessment after recovery he is found to have signs of developmental delay. Can you recognise the clues in the presentation?https://onlinelibrary.wiley.com/doi/10.1097/PG9.0000000000000122

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00:23:34

Speech and Language in Batten disease

JIMD Podcasts ·

2025/06/24

Lottie Morison joins the podcast to discuss recent insights around speech and language progression and assessment in CLN2 and CLN3 disease. Lottie is the first speech and language pathologist to lead an episode and brilliant exemplifies the multidisciplinary nature of IMD care. Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease Lottie D. Morison, et al https://doi.org/10.1002/jimd.12838

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260 results

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