The JIMD Podcast, a fortnightly podcast from the Journal of Inherited Metabolic Disease. Features interviews with journal authors discussing recent publications.

Journal of Inherited Metabolic Disease podcast

Lottie Morison joins the podcast to discuss recent insights around speech and language progression and assessment in CLN2 and CLN3 disease. Lottie is the first speech and language pathologist to lead an episode and brilliant exemplifies the multidisciplinary nature of IMD care. 

Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease
Lottie D. Morison, et al
https://doi.org/10.1002/jimd.12838

Speech and Language in Batten disease

In this latest episode, we explore what's next for treating classic galactosemia. The discussion is anchored in two fascinating recent publications, including the wide-angle perspective from “Reshaping the Treatment Landscape of a Galactose Metabolism Disorder” and a deep dive into something delightfully unexpected: purple sweet potato color (PSPC) as a therapeutic strategy. Yes, purple sweet potatoes. Who knew?

We’re joined by familiar voices Estela Rubio-Gozalbo and Kent Lai, alongside first-time guests Synneva HagenLillevik and Bijina Balakrishnan, for a conversation that blends bold scientific possibility with practical insights on the challenges of developing disease-modifying therapies for galactosemia.

Reshaping the Treatment Landscape of a Galactose Metabolism Disorder
M. Estela Rubio-Gozalbo, et al
https://doi.org/10.1002/jimd.70013

Assessment of Long-Term Safety and Efficacy of Purple Sweet Potato Color (PSPC) and Myo-Inositol (MI) Treatment for Motor Related and Behavioral Phenotypes in a Mouse Model of Classic Galactosemia
Olivia Bellagamba, et al
https://doi.org/10.1002/jimd.70002

Future therapies in galactosemia

Dr Laura Adang returns to the podcast, this time discussing diagnostic delays in early onset forms of metachromatic leukodystrophy and explains why the only logical route to prompt diagnosis is newborn screening and how gene therapy might lead to a 'normal' life for children, if only we can find them early enough.

Characterizing Diagnostic Delays in Metachromatic Leukodystrophy: A Real-World Data Approach
Ali Mohajer, et al
https://doi.org/10.1002/jimd.70049

Diagnostic delay in Metachromatic Leukodystrophy

In this episode, Sabine Fuchs and Eva Hoytema discuss their recent work exploring the expanding clinical spectrum of aminoacyl-tRNA synthetase deficiencies, highlighting diagnostic challenges and emerging insights into this complex group of rare disorders.

Setting the Stage for Treatment of Aminoacyl-tRNA Synthetase (ARS)1-Deficiencies: Phenotypic Characterization and a Review of Treatment Effects
Eva M. M. Hoytema van Konijnenburg, et al
https://doi.org/10.1002/jimd.70017

05/08/2025

ARS1 Deficiencies

In this episode, we speak with Irena Muffels and Eva Morava about their recent review, The Therapeutic Future for Congenital Disorders of Glycosylation. We explore the three pillars they propose for advancing CDG treatment: improving disease models, enhancing clinical trial readiness, and finding scalable strategies that move us beyond one-gene-at-a-time approaches. From patient-derived brain organoids to AI-powered outcome assessments and the promise of basket trials, this conversation is a sweeping tour through the innovations shaping the future of CDG care.

The Therapeutic Future for Congenital Disorders of Glycosylation
I. J. J. Muffels, T. Kozicz, E. O. Perlstein, E. Morava
https://doi.org/10.1002/jimd.70011

The treatment landscape in CDG

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.