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

Dr Sander Houten of the Icahn School of Medicine returns to the podcast to explain his work exploring opportunities for substrate reduction therapy in disorders of valine and isoleucine metabolism.

Acyl-CoA dehydrogenase substrate promiscuity: Challenges and opportunities for development of substrate reduction therapy in disorders of valine and isoleucine metabolism
Sander M. Houten, et al
https://doi.org/10.1002/jimd.12642

Possible substrate reduction therapy in disorders of valine and isoleucine metabolism

What if one enzyme could link metabolism, epigenetics, and therapy across conditions as diverse as epilepsy, cancer, and inflammation?

In this episode, we dive into the fascinating world of adenosine kinase (ADK), an ancient enzyme that controls adenosine levels, energy balance, and even DNA methylation. Dr Detlev Boison join us to discuss their recent review in the Journal of Inherited Metabolic Disease, which reframes ADK not just as a metabolic regulator, but as a potential epigenetic drug target.

From seizure suppression to cancer immunology, ADK sits at a crossroads, and could be a future key to metabolic and epigenetic medicine.

Adenosine Kinase: An Epigenetic Modulator and Drug Target
Uchenna Peter-Okaka, Detlev Boison
https://doi.org/10.1002/jimd.70033

Adenosine Kinase

In this episode we discuss new insights into the variability of long-term outcomes in classic galactosemia. Joining me are Nikki Smith, Olivia Garrett, and Judy Fridovich-Keil, who together explore how complications in cognitive, motor, and speech domains emerge, cluster, and vary in severity across patients. Their study highlights both patterns and unanswered questions, illustrating the challenges families face and the importance of refining prognostic tools.

Patterns of Penetrance and Expressivity of Long-Term Outcomes in Classic Galactosemia
Nicole H. Smith et al.
https://doi.org/10.1002/jimd.70020

Penetrance, expressivity, and outcomes in classic galactosemia

Can small molecules stabilise OTC enzyme activity and change the outlook for urea cycle disorders? Dr Alexander Laemmle (University Hospital Bern) discusses pharmacological chaperones,  a novel approach that strengthens enzyme stability in patient-derived liver models and offers new hope for female OTC carriers.

Novel Treatment Strategy for Patients With Urea Cycle Disorders: Pharmacological Chaperones Enhance Enzyme Stability and Activity in Patient-Derived Liver Disease Models
Adhuresa Ramosaj, et al
https://doi.org/10.1002/jimd.70043

Induced pluripotent stem cell technology as diagnostic tool in patients with suspected ornithine transcarbamylase deficiency lacking genetic confirmation
Adhuresa Ramosaj et al
https://doi.org/10.1016/j.ymgmr.2023.101007

Pharmacological chaperones in OTC deficiency

Inherited metabolic diseases aren’t just for the young.

James Nurse talks with François Maillot and Ida Schwartz about their systematic review revealing how IMDs can first be diagnosed well into older age. From Fabry disease to alkaptonuria, they discuss diagnostic delays, missed clues, and why it’s time to think about geriatric metabolic medicine.

Diagnosis of Inherited Metabolic Disease in Older Patients: A Systematic Literature Review
Maria-Rita Moio, et al
https://doi.org/10.1002/jimd.70038

Geriatric IMD: Diagnosing inherited metabolic disorders in older adults

Here’s a polished podcast blurb suitable for LinkedIn, BlueSky, or Apple Podcasts listings — written in the JIMD Podcast tone and style:

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It’s one of the most talked-about breakthroughs of 2025, a first-in-human demonstration of in vivo gene editing to treat an inherited metabolic disease.

In this episode, Kiran Musunuru and Rebecca Ahrens-Nicklas are joined by Julien Baruteau to unpack what this means for the field. They explore the science behind gene editing, the importance of ethical design, and the emotional weight of stopping therapy once enzyme function is restored.

The conversation bridges the NEJM landmark paper (Musunuru et al., 2025) and the accompanying JIMD editorial (Rahman & Baruteau, 2025), reflecting on what this moment tells us about the future of metabolic medicine and how ready we are for it.

First in Human Gene Editing for an Inherited Metabolic Disease
Shamima Rahman, Julien Baruteau
https://doi.org/10.1002/jimd.70056

Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease
Kiran Musunuru, et al
https://www.nejm.org/doi/10.1056/NEJMoa2504747

First in human gene editing: a new era for IMD therapies

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.