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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

00:57:44

Genomic newborn screening: are we entering a new era...

JIMD Podcasts ·

2024/01/05

Dr David Bick, Dr Jim Bonham MBE and Henrietta Hopkins re-create a panel from the SSIEM Annual Meeting in 2022 to discuss the use of whole genome sequencing in NBS, asking "are we entering a new era of screening?" Genomic newborn screening: Are we entering a new era of screening? Ute Spiekerkoetter, et al https://doi.org/10.1002/jimd.12650

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00:04:57

Shortcast: A case of hyperlysinemia identified by...

JIMD Podcasts ·

2023/12/29

Dr Sander Houten discusses a child with hyperlysinemia diagnosed via newborn screening and whether this reflects a disease or just a metabolic perturbation. This distinction is relevant as inducing this state may be a treatment option in GA1 or pyridoxine dependent epilepsy. A case of hyperlysinemia identified by urine newborn screening Mehdi Yeganeh, et al https://doi.org/10.1002/jmd2.12399

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00:39:29

JIMD Editor's Roundtable (2023)

JIMD Podcasts ·

2023/12/22

The Journal of Inherited Metabolic Disease Editorial Committee come together to talk about the direction of metabolic medicine, the dangers and potential of AI, impact factors, reviewing papers and their publication hopes for 2024. There's also a little metabolic quiz, allowing you to pit your wits against the committee. Featuring: Shamima Rahman, Matthias Baumgartner, Verena Peters, Marc Patterson, Johannes Zschocke and Sean Froese. Quo vadis now: Beyond genomics to an era of personalised

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00:04:25

Shortcast: Relationship between plasma & capillary...

JIMD Podcasts ·

2023/12/15

Blood spots are integral to disease monitoring in PKU, however, there are concerns regarding correlation between capillary and plasma levels and discrepancies arising based on sampling quality and storage. Dr Rachel Carling explains how a volumetric blood collection device presents a cost effective way to improve consistency and reduce rejected samples. Investigation of the relationship between phenylalanine in venous plasma and capillary blood using volumetric blood collection devices Rachel S

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00:13:07

Deciphering pathogenicity with CRISPR/Cas9

JIMD Podcasts ·

2023/12/08

In our latest podcast, Antonia Ribes, Frederic Tort, and Gerard Muñoz-Pujol discuss CRISPR/Cas9 based technique for the validation of genetic variants requiring just the genetic data. CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders Gerard Muñoz-Pujol, et al https://doi.org/10.1002/jimd.12681

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00:12:00

Shortcast: Grip strength in patients with...

JIMD Podcasts ·

2023/12/01

In the latest Shortcast, Jared J. Druss and Professors Nancy Potter and Judy Fridovich-Keil discuss grip strength in galactosemia (and how competitive boys can bias study results). Grip strength in patients with galactosemia and in a galactose-1-phosphate uridylyltransferase (GALT)-null rat model Jared J. Druss, et al https://doi.org/10.1002/jimd.12684

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00:13:20

Gene therapy in Glycogen Storage Disorders

JIMD Podcasts ·

2023/11/24

Dr Dwight Koeberl joins the podcast to provide some background to gene therapies in Glycogen Storage Disorders, hi-light some ongoing studies and explain why we owe at least some of our knowledge to a menagerie of animal models. Gene therapy for glycogen storage diseases Dwight D. Koeberl, et al https://doi.org/10.1002/jimd.12654

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00:04:29

Shortcast: Screening data for 19 patients with...

JIMD Podcasts ·

2023/11/17

Dr Will Heath describes insights form screening data derived from 19 patients enrolled in a phase 1 study in late-onset Pompe disease. Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapy William B. Hannah, et al https://doi.org/10.1002/jmd2.12391

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00:20:19

CAD deficiency: Beyond the genetics

JIMD Podcasts ·

2023/11/10

In an ensemble piece, Dr Saskia Wortmann, Dr Hud Freeze, and Dr Santiago Ramón-Maiques discuss CAD deficiency and the challenge of finding new ways to validate genetic variants when pathogenicity seems uncertain. Beyond genetics: Deciphering the impact of missense variants in CAD deficiency Francisco del Caño-Ochoa, et al https://doi.org/10.1002/jimd.12667

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00:05:35

Shortcast: Diagnosis and management of children with...

JIMD Podcasts ·

2023/11/07

Dr Kaustuv Bhattacharya explains the insights of his team into the diagnosis and management of a cohort of children with McArdle Syndrome and challenges some of the conceptions around this disease. Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales Louisa Adams, et al https://doi.org/10.1002/jmd2.12389

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00:05:46

Shortcast: PIGO-CDG: A case study, phenotypic...

JIMD Podcasts ·

2023/11/03

Dr Rodrigo Starosta describes the management of a challenging presentation of PIGO-CDG and discusses insights into this rare GPI-anchor disorder. PIGO-CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations Rodrigo Tzovenos Starosta, et al https://doi.org/10.1002/jmd2.12396

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00:19:02

Comorbidity in acute porphyria

JIMD Podcasts ·

2023/10/27

It's a 2-for-1 podcast as Dr Mattias Lissing of the Karolinska Institute joins us to discuss two recent papers looking at cancer risk, comorbidity and mortality in the acute porphyrias. Risk for incident comorbidities, nonhepatic cancer and mortality in acute hepatic porphyria: A matched cohort study in 1244 individuals Mattias Lissing, et al https://doi.org/10.1002/jimd.12583 Porphyrin precursors and risk of primary liver cancer in acute intermittent porphyria: A case–control study of 188

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00:04:10

Metabolic mysteries: Post-partum ataxia and confusion

JIMD Podcasts ·

2023/10/23

Dr Markey McNutt of UT South Western describes a patient presenting with post-partum ataxia and confusion and just when you think you know the answer there's an extra mystery at the end. Read the paper here: https://doi.org/10.1002/jmd2.12388

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00:05:27

Shortcast: A retrospective cohort study of Libmeldy...

JIMD Podcasts ·

2023/10/19

Dr Claire Horgan discusses the first year of offering gene therapy to patients with metachromatic leukodystrophy (MLD) in the UK. When given in a timely fashion the impact is incredible but large numbers of children remain ineligible for treatment. A retrospective cohort study of Libmeldy (atidarsagene autotemcel) for MLD: What we have accomplished and what opportunities lie ahead Claire Horgan, et al https://doi.org/10.1002/jmd2.12378

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00:12:32

An oral enzyme therapy for MSUD

JIMD Podcasts ·

2023/10/13

In this podcast, Dr Kristen Skvorak discusses the development and testing of a new oral enzyme for the treatment of Maple Syrup Urine Disease. Oral enzyme therapy for maple syrup urine disease (MSUD) suppresses plasma leucine levels in intermediate MSUD mice and healthy nonhuman primates Kristen Skvorak, et al https://doi.org/10.1002/jimd.12662

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00:04:19

Shortcast: Comparison of subcutaneous and intravenous...

JIMD Podcasts ·

2023/10/09

Enzyme Replacement Therapy (ERT) has changed the course of several lysosomal storage disorders but regular, intravenous administration is not without its issues. In this latest Shortcast, Dr Paulina Dabrowska-Schlepp describes her group's work to develop subcutaneous ERT for Fabry Disease. Comparison of efficacy between subcutaneous and intravenous application of moss-aGal in the mouse model of Fabry disease Paulina Dabrowska-Schlepp, et al https://doi.org/10.1002/jmd2.12393

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00:03:55

Metabolic mysteries: A child with dystonia and MRI...

JIMD Podcasts ·

2023/10/05

Dr Luisa Averdunk of the University Children's Hospital in Düsseldorf discusses the investigation of a 2-year-old presenting with acute episodes of dystonia and symmetrical basal ganglia abnormalities. Will you unravel this metabolic mystery before all is revealed? See the associated image and read the full report here: https://onlinelibrary.wiley.com/doi/full/10.1002/jimd.12680

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00:14:51

Fetal gene therapy

JIMD Podcasts ·

2023/09/29

In our latest podcast we welcome Simon Waddington, Professor in Gene Transfer Technology at the EGA Institute for Women's Health. Professor Waddington discusses the development of fetal gene therapy and why it might be desirable to deliver gene therapy to the unborn child. Fetal gene therapy Simon N. Waddington, et al https://doi.org/10.1002/jimd.12659

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00:05:54

Shortcast: Interstitial lung disease and pancreatic...

JIMD Podcasts ·

2023/09/23

Dr Oliver Heath describes a new patient with CADDS who developed pancreatic exocrine deficiency and interstitial lung disease. Interstitial lung disease and pancreatic exocrine insufficiency in CADDS: Phenotypic expansion and literature review Oliver Heath, et al https://doi.org/10.1002/jmd2.12390

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00:52:22

SSIEM 2022 special episode

JIMD Podcasts ·

2023/09/15

Professor Ute Spiekerkoetter co-hosts a special episode of the podcast, compiled to accompany the SSIEM 2022 themed issue from September 2023 and look back on a wonderful meeting hosted in Freiburg the year before. This episode features three different papers and you jump straight to these at the following locations: 6 min 25 sec: Dr Carla Hollak, Noa Rosenburg and Nina Stolwijk discuss public-private partnerships in drug development 27 min 10 sec: Professor Martina Huemer explains how we should

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