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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

00:21:50

Brain changes in infantile Pompe disease

JIMD Podcasts ·

2024/11/05

Dr Hannerieke van den Hout of Erasmus MC joins the podcast to discuss observations from two decades of early treated infantile onset Pompe disease and the evolving nature of the neurological phenotype.Long term survival in patients with classic infantile Pompe disease reveals a spectrum with progressive brain abnormalities and changes in cognitive functioning van den Dorpel, et al https://doi.org/10.1002/jimd.12736

en

00:06:40

Shortcast: Metabolic management of a successful...

JIMD Podcasts ·

2024/11/01

Callie Ferguson discusses her group's care for a young woman with FBPase deficiency during pregnancy and beyond. Metabolic management of a successful pregnancy and postpartum complications in fructose-1,6-bisphosphatase deficiency Callie Ferguson, Anita Madison, Ada Hamosh, Celide Koerner https://doi.org/10.1002/jmd2.12453

en

00:26:07

Gene therapy for mitochondrial disorders

JIMD Podcasts ·

2024/10/25

Professor Shamima Rahman and Dr Nandaki Keshavan take us on a whistle stop tour of the different approaches taken to gene therapy in mitochondrial disease and why some may work better than others. Gene therapy for mitochondrial disorders Nandaki Keshavan, Michal Minczuk, Carlo Viscomi, Shamima Rahman https://doi.org/10.1002/jimd.12699

en

00:35:05

Adult outcomes in classic galactosemia

JIMD Podcasts ·

2024/10/11

Olivia Garrett, Jared Druss, Estela Rubio-Gozalbo, Gerard Berry, and Judith Fridovich-Keil discuss outcomes in classic galactosemia drawn from patient surveys of 97 adults.Health and well-being of maturing adults with classic galactosemia Olivia S. Garrett, Jared J. Druss, E. Naomi Vos, Yu-Ting Debbie Fu, Stephanie Lucia, Patricia E. Greenstein, Anna Bauer, Jolanta Sykut-Cegielska, Karolina M. Stepien, Cameron Arbuckle, Olga Grafakou, Uta Meyer, Nele Vanhoutvin, Adriana Pané, Annet M. Bosch,

en

00:29:37

Footprints of IMD: Metabolic cardiovascular...

JIMD Podcasts ·

2024/10/04

Professor Carlos Ferreira joins Eva Morava to discuss the metabolic cardiovascular disease and explain why cardiac involvement is common in IMDs and when an underlying metabolic should be suspected in a cardiac presentation.Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2020.12.290 Find IMDs associated with epilepsies at: http://www.iembase.org/gamuts/store/docs/GAMUTS_Supplemental_table%202_footprints_4_181220.pdf

en

00:25:15

Neuronopathic gaucher disease

JIMD Podcasts ·

2024/09/27

Originally presented at the SSIEM 2023 Annual Symposium, Dr Ozlem Goker-Alpan discusses neuronopathic gaucher disease, regional variations and hopes for new treatments.Neuronopathic Gaucher disease: Rare in the West, common in the East Ozlem Goker-Alpan, Margarita M. Ivanova https://doi.org/10.1002/jimd.12749

en

00:14:25

Chorioretinopathy In LCHADD

JIMD Podcasts ·

2024/09/13

Dr Melanie Gillingham, PhD, RD, joins the podcast to discuss eye disease in LCHADD and changes in outcomes following early or late diagnosis. Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy Melanie B. Gillingham, et al https://doi.org/10.1002/jimd.12738

en

00:17:59

Footprints of IMD: Metabolic myopathies... with...

JIMD Podcasts ·

2024/09/09

Professor Corrado Angelini joins Eva Morava to discuss the footprints of metabolic myopathies, why they are so common and when they should be suspected. Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2022.09.004 Find IMDs associated with epilepsies at: http://www.iembase.org/gamuts/store/docs/Footprints_myopathies_table%20151022.pdf

en

00:10:12

SSIEM 2024 Day 4 - One eye on Porto, one on Kyoto

JIMD Podcasts ·

2024/09/06

Concluding our limited series related to the SSIEM 2024 meeting in Porto. We reflect on Day 3 and modelling disease through organoids, nursing in IMD investigation of hypoglycaemia. We also hear more about dolichol metabolism and George Komrower.

en

00:09:09

SSIEM2024 Day 3 - Definitely not brains in jars

JIMD Podcasts ·

2024/09/05

Thoughts on the second day of SSIEM 2024 annual symposium and a little preview of day 3.

en

00:07:07

SSIEM2024 Day 2 - Should we screen new adults?

JIMD Podcasts ·

2024/09/04

A look back on the first day of the SSIEM 2024 Annual Symposium and a preview of Day 2 with Rodrigo Starosta co-hosting.

en

00:11:20

SSIEM2024 Day 1 - Making you feel uncomfortable

JIMD Podcasts ·

2024/09/02

The first of a series of podcasts accompanying the 2024 annual symposium of the SSIEM 2024. In this episode Dr Dulce Quelhas reflects on her plans for the meeting and just how long it has been gestating. Stay tuned for daily content.

en

00:21:19

Flies, plants and classic galactosemia

JIMD Podcasts ·

2024/08/30

Professor Judy Fridovich-Keil returns to the podcast to explain her work to illustrate whether the phenotype of galactosemia is related to GALT activity or galactose metabolism. Her group have been working with plant enzymes in fruit flies. Restoring galactose metabolism without restoring GALT rescues both compromised survival in larvae and an adult climbing deficit in a GALT-null D. melanogaster model of classic galactosemia Jennifer M. I. Daenzer, et al https://doi.org/10.1002/jimd.12774

en

00:03:53

Shortcast: Do early-treated adults with...

JIMD Podcasts ·

2024/08/30

Dr Roman Trepp attempts to answer the question, Do early-treated adults with phenylketonuria sense high phenylalanine levels? Do early-treated adults with phenylketonuria sense high phenylalanine levels? Laura Hauri, Raphaela Muri, Regula Everts, Roman Trepp https://doi.org/10.1002/jmd2.12446

en

00:18:09

Fatty acid homeostasis

JIMD Podcasts ·

2024/08/16

Professors Fréd Vaz and Ronald Wanders present an entertaining and informative overview of fatty acid homeostasis and explain why the catabolic and anabolic processes cannot be considered separately.Disorders of fatty acid homeostasis Frédéric M. Vaz, et al https://doi.org/10.1002/jimd.12734

en

00:06:30

Metabolic mysteries: Progressive neurological...

JIMD Podcasts ·

2024/08/09

Dr Annet Bosch describes three cases where young adults developed worsening neurological symptoms after a change in diet. Initially confused with Guillan-Barré Syndrome, this treatable condition may be hard to diagnose but devastating to miss. Find full details here: https://doi.org/10.1002/jmd2.12427

en

00:18:00

Heterozygous DHDDS variants

JIMD Podcasts ·

2024/08/02

Dr Irena Muffels is joined by Professor Eva Morava to discuss insights into heterozygous DHDDS variants, an autosomal dominant IMD that appears to impact on multiple different metabolic pathways. Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variants I. J. J. Muffels, et al https://doi.org/10.1002/jimd.12769

en

00:30:47

Footprints of IMD: Metabolic Epilepsies... with...

JIMD Podcasts ·

2024/07/29

Professor Phillip Pearl joins Eva Morava to discuss the footprints of metabolic epilepsies and a very brief introduction to the intertwined nature of music and neurology. Read the referenced paper here: https://doi.org/10.1016/j.ymgme.2023.107690 Find IMDs associated with epilepsies at: http://iembase.org/gamuts/store/docs/IMDs_presenting_with_epilepsies_010124.pdf

en

00:17:53

Gene replacement therapies for inherited disorders of...

JIMD Podcasts ·

2024/07/19

Dr Henry Lee joins the podcast to discuss the challenges of developing gene therapies for inherited disorders of neurotransmission and shares the progress that his group has made with SSADH deficiency. Gene replacement therapies for inherited disorders of neurotransmission: Current progress in succinic semialdehyde dehydrogenase deficiency Henry H. C. Lee, et al https://doi.org/10.1002/jimd.12735

en

00:04:18

Shortcast: Galactokinase 1 is the source of elevated...

JIMD Podcasts ·

2024/07/12

Dr Tom Hartl discusses his group's work with a mouse model that knocks out both GALT and GALK and the insights that this provides into classic galactosemia.Galactokinase 1 is the source of elevated galactose-1-phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemia Linley Mangini, et al https://doi.org/10.1002/jmd2.12438

en

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