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Urea Cycle Disorders
Pregnancy
Aicardi-Goutières Syndrome
Metabolic Control
Inherited Metabolic Diseases
Hyperammonemia
Management and Clinical Outcomes
Methionine Synthase Reductase Deficiency
Long-Chain Fatty Acid Oxidation Disorders
Multidisciplinary Teams
Inborn Metabolic Diseases
Pediatric Palliative Care
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.

PublishesWeeklyEpisodes233Founded5 years ago
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Artwork for JIMD Podcasts

Latest Episodes

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 institut... more

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-der... more

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

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 do... more

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Recent Guests

Dr. Alexander Lamley
Senior Author of the paper and Consultant at the University Hospital in Bern.
University Hospital in Bern
Episode: Pharmacological chaperones in OTC deficiency
Dr. Ray Wang
Clinical and Biochemical Geneticist at Children's Hospital of Orange County
Children's Hospital of Orange County
Episode: IMD Research Round-Up: Lysosomal Storage Disorders
Professor Detlev Boison
Professor and Vice Chair of Research and Training at Rutgers University
Rutgers University
Episode: Adenosine Kinase
Ulrike Mütze
Associate Professor and Consultant at University Hospital Heidelberg, Germany, focusing on pediatric care and newborn screening.
University Hospital Heidelberg
Episode: IMD Research Round-Up: Newborn Screening
Chris Vorster
Director of the Centre for Human Metabolomics at Northwest University, South Africa, focusing on newborn screening and rare diseases.
Northwest University
Episode: IMD Research Round-Up: Newborn Screening
Sarah Viall
Assistant Professor in Molecular Medical Genetics and Pediatrics at Oregon Health & Science University, involved in State Newborn Screening Program.
Oregon Health & Science University
Episode: IMD Research Round-Up: Newborn Screening
Dr. Eva Hoytema
Metabolic disease specialist at Wilhelmina Children's Hospital University Medical Center
Wilhelmina Children's Hospital University Medical Center
Episode: ARS1 Deficiencies
Matthew Gentry
Chair of Biochemistry and Molecular Biology at the University of Florida
University of Florida
Episode: IMD Research Round-Up: Glycogen Storage Disorders
Joost Groen
Clinical Biochemist at the University Medical Center Groningen
University Medical Center Groningen
Episode: IMD Research Round-Up: Glycogen Storage Disorders

Hosts

James Nurse
Social media editor of the Journal of Inherited Metabolic Disease and host of the podcast.
Rodrigo Starosta
Host of the JIMD Podcast Research Roundup Series and Clinical Biochemist.

Reviews

4.9 out of 5 stars from 42 ratings
  • Great podcast!

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

    Apple Podcasts
    5
    MaxwellPodcast
    United States2 months ago
  • Informative interviews

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

    Apple Podcasts
    5
    MichelTchan
    Australia5 years ago

Listeners Say

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

Listeners praise the podcast for its informative content and the quality of interviews with experts in the field, indicating it is a valuable resource for professionals involved in metabolic disease research and treatment.
The discussions are noted for their depth and relevance, offering insights into the latest research and clinical practices.

Chart Rankings

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Apple Podcasts
#111
Brazil/Science
Apple Podcasts
#192
United Arab Emirates/Science

Talking Points

Recent interactions between the hosts and their guests.

Pharmacological chaperones in OTC deficiency
Q: What was the rationale for using these models, and how do they compare?
Using patient-derived iPSC models allows for a more accurate representation of the patient's specific genetic background, while primary human hepatocytes provide more mature cells for testing.
Pharmacological chaperones in OTC deficiency
Q: Could you explain what a PC is and how it might help in OTC?
Pharmacological chaperones are small molecules that assist in stabilizing enzymes and enhancing their activity. In the context of OTC deficiency, they can potentially improve the function of the residual enzyme activity.
Pharmacological chaperones in OTC deficiency
Q: What got you interested in this particular disorder?
Dr. Lamley's interest was sparked during his early work with a patient who had a urea cycle disorder. His experience with these patients led him to focus more on OTC deficiency.
Penetrance, expressivity, and outcomes in classic galactosemia
Q: How do you define penetrance and expressivity regarding clinical outcomes?
Penetrance is whether a person has a given outcome or not; expressivity refers to the severity of that outcome if they have it.
Penetrance, expressivity, and outcomes in classic galactosemia
Q: So Judy, I know you've been working on galactosemia for decades. Why was this the right time to do a structural review of long-term outcomes?
This study was long overdue as long-term outcomes in classic galactosemia are known to be heterogeneous and have not been extensively explored due to lack of comprehensive data. They finally had a sufficiently large and deep data set to analyze these outcomes effectively.

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Frequently Asked Questions About JIMD Podcasts

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

The content features in-depth discussions surrounding inherited metabolic diseases, including their biomarkers, diagnosis, and treatment approaches. Episodes frequently highlight significant research findings and expert insights on complex conditions such as adenosine kinase modulation, congenital disorders, and the challenges associated with early detection in newborn screening practices. The blend of expert interviews and case studies not only provides valuable information for healthcare professionals but also seeks to enhance public awareness of various metabolic disorders. There is an emphasis on cutting-edge research, novel treatment strategies, and personal patient stories, making it a compelling resource for those interested in advan... 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. 英語聞き流し | Sakura English
3. JAMA Clinical Reviews
4. Practical Neurology Podcast
5. Parenting Hell with Rob Beckett and Josh Widdicombe

How many episodes of JIMD Podcasts are there?

JIMD Podcasts launched 5 years ago and published 233 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. Alexander Lamley
2. Dr. Ray Wang
3. Professor Detlev Boison
4. Ulrike Mütze
5. Chris Vorster
6. Sarah Viall
7. Dr. Eva Hoytema
8. Matthew Gentry

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