JIMD Podcasts

Join us for a rare conversation with Professors Jean-Marie Saudubray and Manuel Schiff as they reflect on six decades of progress in inherited metabolic diseases, from the earliest chromatograms to the dawn of genomic medicine. This episode explores the discoveries, collaborations, and human stories that shaped the field and continue to guide its future. A Brief History of Inherited Metabolic Diseases: A Personal 60 Years Clinical Flashback Jean-Marie Saudubray, Manuel Schiff https://doi.org/10.1002/jimd.70063

In this episode of the JIMD Podcast, Terry G. J. Derks, Alessandro Rossi, Sarah C. Grünert and Yunkoo Kang talk about the evolving role of continuous glucose monitoring (CGM) in liver glycogen storage diseases. The conversation spans international consensus on CGM use and an exciting deep-learning approach to predicting hypoglycaemia, pointing towards more personalised and preventive care for people living with GSD. State of the Art and Consensus Statements by Healthcare Providers, Patients, and Caregivers on Continuous Glucose Monitoring in Liver Glycogen Storage Diseases Terry G. J. Derks, et al https://doi.org/10.1002/jimd.70040 and A deep learning approach for blood glucose monitoring and hypoglycemia prediction in glycogen storage disease Ji Seung Ryu, et al https://www.nature.com/articles/s41598-025-97391-8

A child with severe developmental delay and an early-onset tumour sets the stage for a remarkable case of genetic investigation. In this episode, Sally Ann Lynch and Alfonso D’Alessio uncover how functional testing transformed an uncertain variant into a key diagnostic insight. Read the article: https://doi.org/10.1002/ajmg.a.64275

Krista Casazza talks about validating key biomarkers in Niemann-Pick type C and why they are essential for future clinical trials and regulatory approval. The discussion focuses on emerging candidates such as 24-hydroxycholesterol, neurofilament light chain, and calbindin-D, alongside the urgent need for data harmonisation and collaboration across the NPC community. Biomarker Validation in NPC1: Foundations for Clinical Trials and Regulatory Alignment Krista Casazza, et al https://doi.org/10.1002/jimd.70075

In this JIMD Shortcast, Allyson Terrell and Katie Sapp explore the real-world challenges of newborn screening for lysosomal storage disorders, based on a survey of healthcare professionals working at the front line of implementation. The study highlights the limitations of single-tier screening, the value of multi-tier testing, and the growing importance of multidisciplinary collaboration to improve diagnostic clarity and patient outcomes. Exploratory Study on the Challenges of Newborn Screening for Lysosomal Storage Disorders Emphasizes the Need for Multitier Testing and Collaborative Approaches to Management A. Terrell, et al https://doi.org/10.1002/jmd2.70027