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PODCAST

JIMD Podcasts

Journal of Inherited Metabolic Disease

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.

science

All Episodes

00:25:39

Sex Specific Screening in X-linked Adrenoleucodystrophy

JIMD Podcasts ·

2022/11/11

Dr Stephan Kemp returns to the podcast to discuss the recent pilot for sex-specific newborn screen for X-linked adrenoleucodystrophy in the Netherlands. The discussion includes the screening pathway, the decision to make it sex specific and a review of the pilot findings. Sex-specific newborn screening for X-linked adrenoleukodystrophy Monique Albersen, et al https://doi.org/10.1002/jimd.12571

en

00:06:22

Shortcast: Direct replacement of oral benzoate with...

JIMD Podcasts ·

2022/11/08

Dr Mildrid Yeo discusses a single centre's experience of transitioning UCD children from Sodium benzoate to glycerol phenylbutyrate. Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders Mildrid Yeo, et al https://doi.org/10.1002/jmd2.12274

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00:44:02

Everyone's talking about empagliflozin

JIMD Podcasts ·

2022/10/28

Maria Veiga-da-Cunha, Claudia Soler-Alfonso and Sarah Grünert join the podcast to talk about Empagliflozin, a repurposed drug with impressive efficacy in GSD 1b and G6PC3 deficiency. Successful use of empagliflozin to treat neutropenia in two G6PC3-deficient children: Impact of a mutation in SGLT5 Cécile Boulanger, et al https://doi.org/10.1002/jimd.12509 Untargeted metabolomic profiling in a patient with glycogen storage disease Ib receiving empagliflozin treatment Eran Tallis, et

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00:09:19

Shortcast: GA 1: Diagnosis, clinical features &...

JIMD Podcasts ·

2022/10/21

Lydia Healy, Meabh O'Shea and Professor Ahmad Ardeshir Monavari report the Irish experience with GA1, both before and after the introduction of new born screening for the condition. Glutaric aciduria type 1: Diagnosis, clinical features and long-term outcome in a large cohort of 34 Irish patients Lydia Healy, et al https://doi.org/10.1002/jmd2.12302

en

00:04:30

Shortcast: Use of Elamipretide in patients assigned...

JIMD Podcasts ·

2022/10/18

Dr Mary Kay Koenig describes the use of elamipretide in three children with different mitochondrial disorders. Her group's work provides dosing parameters for the use of elamipretide in patients <12 years of age with mitochondrial diseases caused by pathogenic variants that impair membrane phospholipid remodelling. Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases Mary Kay Koenig, et

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00:36:57

Genomic Therapies In IMD: Lessons from MMA

JIMD Podcasts ·

2022/10/14

In this podcast, Dr Chuck Venditti of the National Human Genome Research Institute, discusses his passion for MMA, the role of screening and the mechanisms behind different types of genomic therapy. Treatment of metabolic disorders using genomic technologies: Lessons from methylmalonic acidemia Leah E. Venturoni and Charles P. Venditti https://doi.org/10.1002/jimd.12534

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00:04:26

Shortcast: Transcriptomic study in explanted liver...

JIMD Podcasts ·

2022/10/12

Transcription (RNA) of the genes that regulate the heme-synthesis pathway in the liver is modified in a patient with acute intermittent porphyria. Transcriptomic study in explanted liver from a patient with acute intermittent porphyria Jordi To-Figueras, et al https://doi.org/10.1002/jmd2.12329

en

00:03:38

Shortcast: Orofacial abnormalities in...

JIMD Podcasts ·

2022/10/10

Chiel de Bode explains that orofacial abnormalities are present in all types of mucopolysaccharidosis, mucolipidosis II, and III, and therefore evaluation of orofacial health should be part of routine clinical care in these patients. Orofacial abnormalities in mucopolysaccharidosis and mucolipidosis type II and III: A systematic review Chiel J. de Bode, et al https://doi.org/10.1002/jmd2.12331

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00:18:33

Moving towards management guidelines in ALG8 - CDG

JIMD Podcasts ·

2022/09/30

Dr Daniah Albokhari and Dr Andrew Edmondson speak to the podcast about 7 new patients with ALG8-CDG and discuss how their knowledge of the condition helps formulate clinical guidance in this ultra-rare disease. ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines Daniah Albokhari, et al https://doi.org/10.1002/jimd.12527

en

00:05:09

Shortcast: Alternative sources of valine and...

JIMD Podcasts ·

2022/09/27

Maryam Ziadlou presents her work documenting an alternative approach to achieving good metabolic control in a case series of MSUD patients. Alternative sources of valine and isoleucine for prompt reduction of plasma leucine in maple syrup urine disease patients: A case series Maryam Ziadlou, and Anita MacDonald https://doi.org/10.1002/jmd2.12327

en

00:04:08

Shortcast: N-acetylglutamate synthase deficiency with...

JIMD Podcasts ·

2022/09/23

In this Shortcast, Dr Arthavan Selvanathan of the Queensland Lifespan Metabolic Medicine Service, discusses his team's work: N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report N-acetylglutamate synthase deficiency with associated 3-methylglutaconic aciduria: A case report Arthavan Selvanathan, et al https://doi.org/10.1002/jmd2.12318

en

00:13:17

Eye movement disorders in Inherited Metabolic Disease

JIMD Podcasts ·

2022/09/16

Dr Lisette Koens joins the podcast to discuss her work that seeks to address some of the knowledge gaps that exist around eye movement disorders in late onset IMD. Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients Lisette H. Koens, et al https://doi.org/10.1002/jimd.12533

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00:03:37

Shortcast: The prevalence of inherited metabolic...

JIMD Podcasts ·

2022/09/15

Dr Katrin Õunap presents her group's recent work, the prevalence of inherited metabolic disorders in the Estonian population over 30 years: A significant increase during the study period. The prevalence of inherited metabolic disorders in Estonian population over 30 years: A significant increase during study period Elis Tiivoja, et al https://doi.org/10.1002/jmd2.12325

en

00:05:18

Shortcast: Respiratory chain dysfunction in a patient...

JIMD Podcasts ·

2022/09/08

Dr Shanti Balasubramaniam and her team report a further case of a pathogenic, heterozygous, de novo variant in CTBP1 and discusses muscle biopsy findings in this disorder. Mitochondrial respiratory chain dysfunction in a patient with a heterozygous de novo CTBP1 variant Wui-Kwan Wong, et al https://doi.org/10.1002/jmd2.12326

en

00:20:05

The doxycycline paradox in mitochondrial disease

JIMD Podcasts ·

2022/09/02

Expanding on their recent editorial, Shamima Rahman, Eva Morava and Tamas Kozicz discuss the doxycycline paradox and why a medication previously thought to be toxic might present an avenue for treatment in some primary mitochondrial disorders. The doxycycline paradox in primary mitochondrial diseases Tamas Kozicz, Shamima Rahman, and Eva Morava https://doi.org/10.1002/jimd.12531

en

00:26:28

Training in Adult Metabolic Medicine

JIMD Podcasts ·

2022/08/26

Dr Sandra Sirrs returns to the podcast to discuss her work developing training competencies for adult metabolic medicine. Training competencies in adult metabolic medicine: A survey of working adult metabolic medicine physicians Sandra Sirrs, et al https://doi.org/10.1002/jmd2.12312 The right tool for the job—Fit for purpose training programs in adult metabolic medicine Annalisa Sechi, et al https://doi.org/10.1002/jimd.12511

en

00:04:10

Shortcast: A cross-sectional natural history study of...

JIMD Podcasts ·

2022/08/22

Dr Kimberly Goodspeed discusses a diverse group of patients with the rare lysosomal storage disorder, aspartylglucosaminuria, a condition most commonly seen amongst Finnish patients. A cross-sectional natural history study of aspartylglucosaminuria Kimberly Goodspeed, et al https://doi.org/10.1002/jmd2.12294

en

00:24:47

Diagnosis and Discovery: Insights from the...

JIMD Podcasts ·

2022/08/19

Dr Thomas Cassini and Dr Carolina Montano from the NIH's Undiagnosed Diseases Program explain how they work to end the diagnostic journey for patients with undiagnosed conditions. Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program Carolina Montano, et al https://doi.org/10.1002/jimd.12506

en

00:39:19

Future Therapies in Galactosaemia

JIMD Podcasts ·

2022/08/12

The podcast welcomes Professor Maria Estela Rubio-Gozalbo and welcomes back Professor Judy Fridovich-Keil to talk mRNA therapy, gene therapy and disease models in classic galactosemia. Novel mRNA therapy restores GALT protein and enzyme activity in a zebrafish model of classic galactosemia Britt Delnoy, et al https://doi.org/10.1002/jimd.12512 Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia Jennifer M. I

en

00:17:42

Mitochondrial Trifunctional Protein Deficiency

JIMD Podcasts ·

2022/08/05

In this episode, Dr Gepke Visser, Dr Sacha Ferdinandusse and (soon to be Dr) Marit Schwantje discuss the Netherlands' experience of disorders of MTP activity detected on newborn screening. They also shed light on late-presenting disease phenotypes related to thermo-sensitivity. Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands Marit Schwantje, et

en

247 results

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