Best JIMD Podcasts (2026)

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Shortcast: Liver Directed Rx don’t change biochemistry nor Leukodystrophy in Biallelic HMBS Variants 4:23

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15h ago4:23

4:23

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 Phe…

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Sixty Years of Metabolic Medicine: A Conversation with Jean-Marie Saudubray and Manuel Schiff 50:10

3d ago50:10

50:10

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 f…

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Continuous Glucose Monitoring in hepatic GSDs 29:35

10d ago29:35

29:35

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 towa…

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Metabolic mysteries: Developmental delay, hepatoblastoma and a VUS 7:38

17d ago7:38

7:38

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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Biomarkers in Niemann-Pick type C: Preparing for Clinical Trials 25:32

24d ago25:32

25:32

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 …

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Shortcast: Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders 6:08

1M ago6:08

6:08

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 impo…

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Chenodeoxycholic acid in Cerebrotendinous Xanthomatosis 25:22

1M ago25:22

25:22

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 Factor…

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IMD Research Round-Up: Mitochondrial disease 37:38

1M ago37:38

37:38

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 wh…

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First in human gene editing: a new era for IMD therapies 47:40

2M ago47:40

47:40

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 ar…

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Metabolic mysteries: A 61-year-old with rhabdomyolysis and lifelong episodic fatigue 8:24

2M ago8:24

8:24

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.2025.101241By Journal of Inherited Metabolic Disease

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Geriatric IMD: Diagnosing inherited metabolic disorders in older adults 25:51

2M ago25:51

25:51

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.D…

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IMD Research Round-Up: Untargeted metabolomics 43:23

2M ago43:23

43:23

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 geneti…

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Pharmacological chaperones in OTC deficiency 18:32

3M ago18:32

18:32

By Journal of Inherited Metabolic Disease

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Shortcast: Clinical and Developmental Outcomes after 50 Years of Galactosaemia NBS in Ireland 9:01

3M ago9:01

9:01

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

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Penetrance, expressivity, and outcomes in classic galactosemia 26:57

3M ago26:57

26:57

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 an…

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IMD Research Round-Up: Lysosomal Storage Disorders 37:59

3M ago37:59

37:59

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 p…

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Adenosine Kinase 23:40

4M ago23:40

23:40

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 rec…

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Footprints of IMD: Movement Disorders... with Dakota Peacock and Darius Ebrahimi-Fakhari 20:37

4M ago20:37

20:37

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.2025.109084Find IMDs associated with psychiatric presentations at: https://www.iemba…

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Metabolic mysteries: Incidental adrenal calcifications in a neonate 5:55

4M ago5:55

5:55

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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The treatment landscape in CDG 31:13

5M ago31:13

31:13

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-…

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IMD Research Round-Up: Newborn Screening 45:14

5M ago45:14

45:14

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 …

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ARS1 Deficiencies 20:55

5M ago20:55

20:55

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 C…

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Shortcast: Investigating the utility of leukocyte sialic acid measurements in Lysosomal FSASD 4:22

5M ago4:22

4:22

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 DisorderMarya S. Sabir, et alhttps://doi.org/10.1002/jmd2.70029…

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Diagnostic delay in Metachromatic Leukodystrophy 21:31

5M ago21:31

21:31

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…

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IMD Research Round-Up: Glycogen Storage Disorders 32:51

6M ago32:51

32:51

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 Storag…

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Future therapies in galactosemia 33:35

6M ago33:35

33:35

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)…

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Metabolic mysteries: GI bleeding, gallbladder polyps and evolving developmental delay 8:25

6M ago8:25

8:25

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.…

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Speech and Language in Batten disease 23:34

6M ago23:34

23:34

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 D…

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Metabolic Minds 2025 23:41

6M ago23:41

23:41

A special episode of the podcast as we visit the presentation day for the Metbionet Metabolic Minds leadership programme to hear about a plan to safeguard the future of specialist biochemistry services in the UK. Dr Rachel Carling explains the programme and then we hear from three of the course candidates, Dr Alana Burns, Annabel Wong and Freya Has…

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IMD Research Round-Up: Redox metabolism 35:46

7M ago35:46

35:46

Dr Luciana Hannibal, Research Group Leader / Head of Translational Metabolomics at the Centre for Integrative Biological Signalling Studies in Freiburg, and Dr Julien Park, a Physician-scientist at the Children's University Hospital Münster, are Rodrigo and Silvia's latest guests, providing a thorough overview of disorders of Redox Metabolism. Auth…

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ECHS1 deficiency and valine restriction 14:42

7M ago14:42

14:42

Dr Travis Johnson and Dr Sarah Mele join the podcast to explain why flies make great models for Short-chain enoyl-CoA hydratase 1 deficiency (ECHS1D) and how their work is shedding light on different treatment modalities.Valine Restriction Extends Survival in a Drosophila Model of Short-Chain Enoyl-CoA Hydratase 1 (ECHS1) DeficiencySarah Mele, et a…

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Metabolic mysteries: A child with episodic seizures and multiple diagnoses 5:21

7M ago5:21

5:21

Dr Mrinmayee Takle and Dr Kuntal Sen discuss the challenging dilemma of a child, presenting from infancy with recurrent seizures and three different (wrong) diagnoses including opsoclonus-myoclonus-ataxia syndrome.Read the article: https://doi.org/10.1002/cns3.20098Mrinmayee Takle, Dhwani Sahjwani, Diana Bharucha-Goebel, Tyler Rapp, Cecilia Bouska,…

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Managing Metabolic Emergencies - Intoxication type disorders 26:35

7M ago26:35

26:35

Treatment is available for most intoxication-type disorders, but would you know what to do in an emergency. In this podcast, Dr Dexter Tarr discusses the acute management when these conditions cause encephalopathy, seizures, stroke-like episodes, thromboses, liver failure, cardiac failure, arrhythmias and rhabdomyolysis. Emergency Management of Int…

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IEMs in Adult Metabolic Centres: 10 Years Later 22:50

8M ago22:50

22:50

Michel Tchan and Mirjam Langeveld join the podcast to look at changes to adult IMD services over the last decade and consider the challenge to develop services to meet the needs of growing patient numbers over the next 10 years.The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From t…

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IMD Research Round-Up: Methylmalonic Aciduria 34:17

8M ago34:17

34:17

Dr Sabine Fuchs, Professor of Metabolic diseases and innovative therapies at the UMC Utrecht, and Dr Sean Froese, a Principal Investigator in the Metabolism Division at University Children’s Hospital Zürich, join Rodrigo and Silvia to discuss new insights and some of their favourite papers on Methylmalonic Aciduria. Authors opinions are their own a…

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Shortcast: Sleep quality in children with hepatic GSDs, a prospective observational pilot study 8:38

8M ago8:38

8:38

Lucas Agnoletto and Dr Rebecca Halligan report work looking at sleep quality in children with hepatic GSDs, considering whether sleep is impacted by poor glycemic control or our efforts to improve this through overnight feeding.Sleep quality in children with hepatic glycogen storage diseases, a prospective observational pilot studyLucas Agnoletto, …

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NAXD deficiency 32:57

8M ago32:57

32:57

Dr Carole Linster and Dr Nicole van Bergen explain why metabolism isn't perfect and how disorders of enzyme repair present their own challenges. In an episode that explores Niacin and longevity, we also hear why NAXD deficiency is an important differential in acute cardiomyopathy and provides an aetiology that could be highly amenable to treatment.…

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Imaging readiness in the gene therapy era 22:54

9M ago22:54

22:54

Asthik Biswas, Spyros Batzios, and Kshitij Mankad expand on their recent letter to the editor to explain why ushering in the new era of gene therapy treatments requires not just clinical but also imaging readiness. Imaging readiness in the gene therapy era-exploring standardized protocols for response assessmentAsthik Biswas, et alhttps://doi.org/1…

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IMD Research Round-Up: Congenital Disorders of Glycosylation 39:58

9M ago39:58

39:58

Dr Matthew Wilson, Postdoctoral Fellow at the Centre for Human Genetics, KU Leuven, joins hosts Silvia Radenkovic and Rodrigo Starosta to discuss a scintillating selection of CDG papers in our first ever research round-up. Authors opinions are their own and do not represent their institutions.The papers discussed include:A pseudoautosomal glycosyla…

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Exploring the disease burden in Arginase 1 deficiency 27:51

9M ago27:51

27:51

It's an Arg1 extravaganza as Reena Sharma, Sara Olofsson, Karolina Stepien and Alison Woodall discuss three separate papers looking at the Salford Royal experience of a cohort of adults with Arginase 1 deficiency and the wider health and societal cost of the condition. Retrospective analysis of arginase 1 deficiency progression in adults over 5 yea…

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Shortcast: D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS) 5:12

9M ago5:12

5:12

In this Shortcast, Dr Aya Amer presents the New Zealand experience of using ketone (D,L-3-HB) supplementation in 12 patients (aged 10-50 years) with GLUT1DS.D,L-3-hydroxybutyrate in the treatment of glucose transporter 1 deficiency syndrome (Glut1DS)Aya Amer, et alhttps://doi.org/10.1002/jmd2.12461By Journal of Inherited Metabolic Disease

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Citrulline: beyond the urea cycle 26:29

9M ago26:29

26:29

Marshall Summar explains why common polymorphisms and basic physiology mean that L-citrulline may have a role in sickle cell disease, bronchopulmonary dysplasia and even asthma.Potential therapeutic uses of L-citrulline beyond genetic urea cycle disordersMarshall Summarhttps://doi.org/10.1002/jimd.12810…

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Metabolic mysteries: Hypoglycemia? Don't forget the urine 6:11

10M ago6:11

6:11

Dr Ashlee Stiles discusses the work-up of a 13-month-old girl with hypoglycaemia and discusses the need to balance prompt metabolic work-up with managing the acutely unwell patient in front of you. Critical sample collection is key and don't forget the urine. Read the report here: https://www.sciencedirect.com/science/article/pii/S2214426924000156?…

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Metabolic mysteries: New weakness, poor balance and paresthesia at 55 years of age 7:00

10M ago7:00

7:00

In this Metabolic Mystery, Dr Eamon McCarron unravels an unexpected diagnosis in a 55-year-man with a 2-year history of dragging his legs, poor balance, and paresthesia along the outer aspect of his right thigh. He underwent various assessments and investigations over the next 3 years before a diagnosis was made. https://onlinelibrary.wiley.com/doi…

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Transition & executive function in MSUD 16:30

10M ago16:30

16:30

Dr Jessica Gold discusses observations around executive function in early treated MSUD patients and how this impacts on outcomes around transition to adulthood. Executive and adaptive function impacts long-term outcomes for adults with maple syrup urine diseaseJessica I. Gold, et alhttps://doi.org/10.1002/jimd.12827…

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Shortcast: TFP deficiency caused by a deep intronic deletion leading to aberrant splicing 3:05

11M ago3:05

3:05

Dr Thomas Cassini explains how the Undiagnosed Diseases Network group used advanced sequencing techniques to clarify the genotype in a child with an unusual phenotype for mitochondrial trifunctional protein deficiency.Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicingThomas Cassini, et alh…

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CBS Deficiency in the E-HOD Registry 15:58

11M ago15:58

15:58

Dr Andrew Morris joins the podcast to discuss insights from 311 patients with CBS deficiency (classical homocystinuria), their response to treatment and clinical outcomes. Cystathionine β-Synthase Deficiency in the E-HOD Registry—Part II: Dietary and Pharmacological TreatmentAndrew A. M. Morris, Jitka Sokolová, Markéta Pavlíková, Florian Gleich, St…

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The Treatabolome: Don't miss the chance to treat! 22:40

11M ago22:40

22:40

Eva Hoytema van Konijnenburg and Clara van Karnebeek tell the podcast about the treatabolome an epic project to include all current IMD treatments and add them to the IEMbase. The Metabolic Treatabolome and Inborn Errors of Metabolism Knowledgebase therapy tool: Do not miss the opportunity to treat!Bibiche den Hollander, et alhttps://doi.org/10.100…

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Velmanase alfa for alpha-mannosidosis 25:34

11M ago25:34

25:34

Nathalie Guffon joins the podcast to discuss alpha-mannosidosis and the long term efficacy of enzyme replacement therapy with velmanse alfa.Extended long-term efficacy and safety of velmanase alfa treatment up to 12 years in patients with alpha-mannosidosisNathalie Guffon, et alhttps://doi.org/10.1002/jimd.12799…

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An update on autophagy disorders 49:08

1y ago49:08

49:08

It seems everyone is talking about autophagy but what is it and what happens when it goes wrong? Hormos Salimi Dafsari, Carlo Dionisi-Vici, and Heinz Jungbluth join the podcast to answer these questions, discuss their experience across 3 (or 2.5) generations of clinical practice and why you never see an obese 100-year-old.An update on autophagy dis…