JIMD Podcasts

Are inherited metabolic disorders more common, and less predictable, than we previously thought?

Large-scale genomic studies are identifying adults with disease-associated variants who have escaped diagnosis, sometimes despite lifelong symptoms. At the same time, expanding genomic newborn screening risks identifying children who may remain well for decades or never develop clinically significant disease at all.

In this episode Dr Nina Gold, Dr Jessica Gold, and Professor Mirjam Langeveld, explore the tension between missed diagnosis and overdiagnosis and ask, when does knowing more genuinely help?

Are Inherited Metabolic Disorders More Common and Less Predictable Than We Thought?
N Gold et al
https://doi.org/10.1002/jimd.70094

Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic Diseases.
M Langeveld, et al.
https://doi.org/10.1002/jimd.70057

Exclusion-based exome sequencing in critically ill adults 18–40 years old has a 24% diagnostic rate and finds racial disparities in access to genetic testing.
American Journal of Human Genetics
J Gold et al
https://www.cell.com/ajhg/fulltext/S0002-9297(25)00238-1

Long-term Penetrance of Disease Variants in Genes Prioritized for Genomic Newborn Screening.
Gold NB, et al.
https://www.medrxiv.org/content/10.64898/2026.06.10.26355380v1 - pre-print not peer reviewed

Phenylketonuria (PKU) was one of the first inherited metabolic disorders to be recognised, but there is still plenty to discover. Silvia Radenkovic and Rodrigo Starosta are joined by Dr Cary Harding and Dr Wendy Smith to discuss evolving treatments, updated management guidelines and where PKU research is heading next.

The views and opinions expressed in this podcast are those of the speakers and do not necessarily reflect those of their institutions or organisations.

A study of rapamycin in Niemann-Pick C raises an important question: what if the success of a treatment depends on a patient's wider genetic background? Dr Andrés Klein discusses pharmacogenomics, modifier genes and why precision medicine may need to go far beyond making the diagnosis.

A Rapamycin Pharmacogenomic Approach for the Childhood Dementia Niemann-Pick C
Benjamín Szenfeld, et al
https://doi.org/10.1002/jimd.70214

In this JIMD Shortcast, first author Arty Selvanathan discusses their study exploring how clinical outcomes relate to biochemical findings in cobalamin C (cblC) disease. What can biochemical markers really tell us about disease severity, and where do their limitations lie?

Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin-Treated Patients With Early-Onset Cobalamin C Disease
Arthavan Selvanathan, et al
https://doi.org/10.1002/jmd2.70091

How much of metabolic control in methylmalonic acidemia is determined by diet, and how much by the microbiome? In this episode, Engin Köse discusses a prospective longitudinal study exploring protein composition, gut microbial changes, and the impact of metronidazole on biochemical control in MMA.

Dietary Protein Modulation, Gut Microbiota, and Metabolic Control in Methylmalonic Acidemia: A Prospective Longitudinal Study
Engin Köse, et al
https://doi.org/10.1002/jimd.70172