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Newborn Screening
Gene Therapy
Inborn Errors Of Metabolism
Urea Cycle Disorders
Inherited Metabolic Diseases
Clinical Trials
Metabolic Disorders
Inherited Metabolic Disease
Phenylketonuria
Enzyme Replacement Therapy
Mitochondrial Disorders
Pregnancy
Lysosomal Storage Disorders
Galactosemia
Genetic Testing
Methylmalonic Aciduria
Classic Galactosemia
NAXD Deficiency
Adult Metabolic Centers
NAD Metabolism

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.

PublishesWeeklyEpisodes269Founded6 years ago
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Latest Episodes

How much of metabolic control in methylmalonic acidemia is determined by diet, and how much by the microbiome? In this episode, Engin Köse discusses a prospective longitudinal study exploring protein composition, gut microbial changes, and the impact... more

In this Shortcast Dr Mark Wijnen presents two cases where Teriparatide was used to treat bone complications in MPD IVB but explains how temporally associated cardiac disease compels his groups to advise caution in its use. Teriparatide in Two Patient... more

A raised glycine level can point to a surprisingly broad range of conditions. In this episode, James Nurse is joined by Arthavan Selvanathan and Curtis Coughlin to discuss their review, The History and Nosology of the Glycine Disorders: A Framework f... more

Season 2 of the JIMD Research Round-Up begins with a deep dive into classical homocystinuria (CBS deficiency). Hosts Silvia Radenkovic and Rodrigo Starosta are joined by two internationally recognised experts, Dr Andrew Morris (Royal Manchester Child... more

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Recent Guests

Curtis Coughlin
From the Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine
University of Colorado School of Medicine
Episode: High Glycine, Different Diagnoses
Arthi Selvanathan
Genetic Metabolic Disorders Service, Sydney Children's Hospitals Network
Sydney Children's Hospitals Network
Episode: High Glycine, Different Diagnoses
Andrew Morris
Lead clinician for pediatric metabolic medicine
Royal Manchester Children's Hospital
Episode: IMD Research Round-Up: Homocystinuria
Kim Chapman
Professor of pediatrics with focus on methylation and homocysteine metabolism
USC and Children's Hospital Los Angeles
Episode: IMD Research Round-Up: Homocystinuria
Unai Díaz-Moreno
First author from Great Ormond Street Hospital for Children, London
Great Ormond Street Hospital for Children
Episode: Revisiting D-Bifunctional Protein Deficiency
Spyros Batzios
Last author from Great Ormond Street Hospital for Children, London
Great Ormond Street Hospital for Children
Episode: Revisiting D-Bifunctional Protein Deficiency
Stephan Kemp
Professor from the Laboratory of Genetic Metabolic Diseases, Amsterdam UMC
Amsterdam UMC
Episode: The Grey Zone in ABCD1 Variant Classification
Troy Lund
Professor of Pediatrics, Division of Pediatric Blood and Marrow Transplantation and Cellular Therapy
University of Minnesota
Episode: The Grey Zone in ABCD1 Variant Classification
Kyle Landskroner
From AzaFaros
AzaFaros
Episode: Nizubaglustat in GM2 Gangliosidosis

Reviews

4.9 out of 5 stars from 45 ratings
  • Thank you!

    I’m a dietitian new to metabolism in the last 1.5 years and this podcast has been very helpful! Thank you!

    Apple Podcasts
    5
    Mandy Benedict
    United States5 months ago
  • Great podcast!

    As a metabolic fellow I love listening to the podcast! Super informative

    Apple Podcasts
    5
    MaxwellPodcast
    United Statesa year ago
  • Informative interviews

    Great interviews with the authors of recent JIMD articles. Neat way to gain insights quickly

    Apple Podcasts
    5
    MichelTchan
    Australia6 years ago

Listeners Say

Key themes from listener reviews, highlighting what works and what could be improved about the show.

Metabolic fellows appreciate the informative content and depth.
Listeners value quick insights into recent JIMD articles through expert guests.
Dietitians new to metabolism find it very helpful and welcome the clarity.

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Talking Points

Recent interactions between the hosts and their guests.

High Glycine, Different Diagnoses
Q: So thanks both for joining me and overcoming the time zone challenges. Can I ask that we begin with the basics?
We discuss how glycine sits at the center of a complex differential, the shift away from simple labels like NKH to a broader glycine encephalopathy framework, and how history informs current clinical practice.
IMD Research Round-Up: Homocystinuria
Q: Why is newborn screening for homocystinuria important beyond technical details?
Newborn screening is crucial because early diagnosis allows diet-based interventions to prevent major complications, with ongoing trials aiming to relax dietary restrictions while maintaining safety.
Nizubaglustat in GM2 Gangliosidosis
Q: Could you summarize how nizobaglustat works in GM2 gangliosidosis, and how that differs from classic substrate reduction therapies?
Nizobaglustat inhibits two enzymes in the synthesis of complex gangliosides and also targets a regulatory enzyme like NLGase, which together both reduces production and helps normalize lysosomal function, offering a broader mechanism than traditional substrate reduction that focuses on a single enzymatic step.
Palliative care in inherited metabolic disease: an underutilised but essential service
Q: How available are palliative care services for patients with inherited multiple diseases across Europe?
Around 90% of patients in the participating countries have access, but utilization rates are low due to factors like discomfort with the term palliative care.
Palliative care in inherited metabolic disease: an underutilised but essential service
Q: What made you and your colleagues feel this was a question worth asking now?
The motivation stemmed from recognizing that palliative care is a new concept in Norway and understanding its broader implications beyond just oncology.

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Frequently Asked Questions About JIMD Podcasts

What is JIMD Podcasts about and what kind of topics does it cover?

The show centers on in-depth discussions of inherited metabolic diseases, often anchored by authors, clinicians, and researchers presenting case studies, guidelines, and cutting-edge research. Episodes frequently explore diagnostic challenges, newborn screening, disease mechanisms, and emerging therapies, with a strong emphasis on practical implications for clinicians and families. Noteworthy are its international collaborations, guideline development conversations, and a track record of translating complex science into actionable insights for patient care and policy. Potential listeners—clinicians, researchers, students, and patient advocates—will find expert perspectives, clinical context, and concrete takeaways that highlight how new dat... more

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Which podcasts are similar to JIMD Podcasts?

These podcasts share a similar audience with JIMD Podcasts:

1. The Rest Is Politics: Leading
2. The Rest Is Politics
3. The Curbsiders Internal Medicine Podcast
4. Dr. Matt and Dr. Mike's Medical Podcast
5. NEJM This Week

How many episodes of JIMD Podcasts are there?

JIMD Podcasts launched 6 years ago and published 269 episodes to date. You can find more information about this podcast including rankings, audience demographics and engagement in our podcast database.

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What guests have appeared on JIMD Podcasts?

Recent guests on JIMD Podcasts include:

1. Curtis Coughlin
2. Arthi Selvanathan
3. Andrew Morris
4. Kim Chapman
5. Unai Díaz-Moreno
6. Spyros Batzios
7. Stephan Kemp
8. Troy Lund

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