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Artwork for JIMD Podcasts
Urea Cycle Disorders
Pregnancy
Aicardi-Goutières Syndrome
Metabolic Control
Inherited Metabolic Diseases
Management and Clinical Outcomes
Hyperammonemia
Methionine Synthase Reductase Deficiency
Long-Chain Fatty Acid Oxidation Disorders
Multidisciplinary Teams
Pediatric Palliative Care
Inborn Metabolic Diseases
Cerebral Palsy
Congenital Disorders Of Glycosylation
Dietary Management
Gene Therapy
Acute Liver Failure
Glycerol Phenylbutyrate
Phenylketonuria
Late-Onset Refractory Hemolytic Anemia

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.

PublishesWeeklyEpisodes247Founded6 years ago
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Science

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Artwork for JIMD Podcasts

Latest Episodes

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 earlie... more

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 mult... more

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 f... more

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 approac... more

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Recent Guests

Dr. Anja Lee
First author of the study on palliative care in inherited metabolic diseases
Oslo University Hospital
Episode: Palliative care in inherited metabolic disease: an underutilised but essential service
Dr. Trine Tangeraas
Senior author of the study on palliative care in inherited metabolic diseases
Oslo University Hospital
Episode: Palliative care in inherited metabolic disease: an underutilised but essential service
Jean-Marie Saudubray
Professor of Pediatrics and influential figure in metabolic medicine
Episode: Sixty Years of Metabolic Medicine: A Conversation with Jean-Marie Saudubray and Manuel Schiff
Manuel Schiff
Professor of Pediatrics and current president of SSIEM
NECA Hospital
Episode: Sixty Years of Metabolic Medicine: A Conversation with Jean-Marie Saudubray and Manuel Schiff
Krista Casazza
First author of the paper on biomarker validation in NPC1
Episode: Biomarkers in Niemann-Pick type C: Preparing for Clinical Trials
Dr. Tanyel Zübarioglu
From Istanbul University, Diyarbakir; involved in significant research on CTX and CDCA therapy.
Istanbul University
Episode: Chenodeoxycholic acid in Cerebrotendinous Xanthomatosis
Austin Larson
Associate professor in the Department of Pediatrics Section of Genetics at the University of Colorado School of Medicine and director of the Mitochondrial Care Network Clinic at Children's Hospital Colorado.
University of Colorado School of Medicine
Episode: IMD Research Round-Up: Mitochondrial disease
Hilary Vernon
Professor of genetic medicine and pediatrics at Johns Hopkins University School of Medicine, her research focuses on intermediary metabolism and mitochondrial disorders, particularly Barth syndrome.
Johns Hopkins University School of Medicine
Episode: IMD Research Round-Up: Mitochondrial disease
Dr. Kiran Musunuru
A medical expert specializing in gene therapy and genetic disorders
Children's Hospital of Philadelphia
Episode: First in human gene editing: a new era for IMD therapies

Host

James Nurse
Host of JIMD Podcast and Social media editor at the Journal of Inherited Metabolic Disease

Reviews

4.9 out of 5 stars from 43 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 States9 days ago
  • Great podcast!

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

    Apple Podcasts
    5
    MaxwellPodcast
    United States6 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.

Many reviews highlight the engaging interviews with leading experts in the field, providing valuable insights into current research.
Listeners have praised the informative nature and the relevance of the content to their professional interests.

Chart Rankings

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

Apple Podcasts
#27
Colombia/Science

Talking Points

Recent interactions between the hosts and their guests.

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.
Manganese transporter disorders: diagnosis and treatment
Q: What does manganese do and where do we get it from and how do we maintain it?
Manganese is essential for various enzymes in our body and is maintained in tight levels due to its significance for health.

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Frequently Asked Questions About JIMD Podcasts

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

Content centers on the latest research and developments related to inherited metabolic diseases, presenting expert insights into various disorders, their treatments, and diagnostic challenges. Topics span a wide range, including the implications of biomarker validation, gene therapies, metabolic monitoring, and implications of ethical considerations in healthcare. This podcast uniquely combines expert interviews with accessible discussions, making complex medical insights understandable and relevant for both medical professionals and interested laypersons. Whether highlighting the experiences of specific conditions or broader themes in metabolic disease research, it serves as a valuable resource for anyone looking to stay informed in this s... more

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1. Neurology® Podcast
2. JAMA Clinical Reviews
3. The Daily
4. The Tucker Carlson Show
5. Up First from NPR

How many episodes of JIMD Podcasts are there?

JIMD Podcasts launched 6 years ago and published 247 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. Dr. Anja Lee
2. Dr. Trine Tangeraas
3. Jean-Marie Saudubray
4. Manuel Schiff
5. Krista Casazza
6. Dr. Tanyel Zübarioglu
7. Austin Larson
8. Hilary Vernon

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