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Artwork for JIMD Podcasts
Gene Therapy
Newborn Screening
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
Methylmalonic Aciduria
Classic Galactosemia
NAXD Deficiency
NAD Metabolism
Adult Metabolic Centers
Genetic Testing

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.

PublishesWeeklyEpisodes265Founded6 years ago
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Science

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Artwork for JIMD Podcasts

Latest Episodes

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

A new international case series revisits the natural history of D-bifunctional protein deficiency, showing that survival into adolescence and adulthood is possible and that normal VLCFA levels do not exclude the diagnosis. Dr James Nurse speaks with ... more

Two adult siblings with unexplained liver disease, renal complications and intermittent haematological abnormalities but with one feature that seemed to argue against a metabolic diagnosis. In this Metabolic Mystery, Dr Greg Lynch explores how an att... more

Professor Troy Lund and Professor Stephan Kemp discuss the Grey Zone Project and a risk-based framework for interpreting ABCD1 variants in X-linked adrenoleukodystrophy. The episode explores how integrating biochemical, clinical, and longitudinal dat... more

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Recent Guests

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
Jagdeep Walia
From Queen's University, Kingston
Queen's University
Episode: Nizubaglustat in GM2 Gangliosidosis
Mariya Sigatullina
Pediatric neurologist and neurometabolic specialist
Episode: Tyrosine Hydroxylase Deficiency: Consensus guidelines
Thomas Opladen
Founder of the INTD and senior author on THD guideline
Episode: Tyrosine Hydroxylase Deficiency: Consensus guidelines
Ivana Badnarovic
Founder of Little Brave One (HABRISH), patient advocate
Episode: Tyrosine Hydroxylase Deficiency: Consensus guidelines
Sophie Manoy
Presenter of the paper Antinatal and Neonatal Management of Siblings with Carbonic Anhydrase VA Deficiency
Episode: Shortcast: Antenatal and Neonatal Management of Siblings With Carbonic Anhydrase VA Deficiency
Dr. Jörn Oliver Sass
Researcher discussing the publication on Human D-Glyceric Kinase Encoded by GLYCTK and Deficient in D-Glyceric Aciduria is a Mitochondrial Enzyme
Unknown (as introduced)
Episode: D-Glyceric aciduria: is GLYCTK really mitochondrial?

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 States10 months 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.

Chart Rankings

How this podcast ranks in the Apple Podcasts, Spotify and YouTube charts.

Apple Podcasts
#160
United Arab Emirates/Science
Apple Podcasts
#222
South Africa/Science

Talking Points

Recent interactions between the hosts and their guests.

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.
Manganese transporter disorders: diagnosis and treatment
Q: What should I be doing next after seeing the T1 brightness?
You should get a manganese level next; it's critical for diagnosis and treatment.
Manganese transporter disorders: diagnosis and treatment
Q: How would the diseases progress over time?
As children grow, dystonia worsens, leading to significant motor impairments and complications.

Audience Metrics

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Listeners per Episode
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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. NEJM This Week
2. Practical Neurology Podcast
3. Annals On Call Podcast
4. Global News Podcast
5. Neurology® Podcast

How many episodes of JIMD Podcasts are there?

JIMD Podcasts launched 6 years ago and published 265 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. Stephan Kemp
2. Troy Lund
3. Kyle Landskroner
4. Jagdeep Walia
5. Mariya Sigatullina
6. Thomas Opladen
7. Ivana Badnarovic
8. Sophie Manoy

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