JIMD Podcasts

Júlio César Rocha, Anne Daly and Anita MacDonald discuss how nutritional management can move beyond metabolic control towards better lifelong health. From protein substitutes and point-of-care monitoring to new therapies and AI, what might the future look like?

From Control to Optimisation: Evolving Strategies in the Nutritional Management of Inborn Errors of Protein Metabolism
Júlio César Rocha, Anne Daly, Anita MacDonald
https://doi.org/10.1002/jimd.70123

Sarah Firman explores how dietary management can rapidly reduce phytanic acid levels in adult Refsum disease. This case series shows why adequate energy and carbohydrate intake, and avoiding weight loss and catabolism, matter alongside phytanic acid restriction.

Adult Refsum Disease: Case Series of Reducing Circulating Phytanic Acid Levels With Dietary Interventions
Sarah J. Firman, et al
https://doi.org/10.1002/jmd2.70048

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https://www.medrxiv.org/content/10.64898/2026.06.10.26355380v1 - pre-print not peer reviewed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