JIMD Podcasts

In this JIMD Reports Shortcast, Dr Eamon McCarron presents a challenging pregnancy in a woman with lysinuric protein intolerance complicated by immune dysregulation and severe thrombocytopenia.

Hear how multidisciplinary management supported a favourable outcome for both mother and baby.

Pregnancy in Lysinuric Protein Intolerance Complicated by Immune Dysregulation and Severe Thrombocytopenia
Eamon P. McCarron, et al
https://doi.org/10.1002/jmd2.70109

Could some mitochondrial disorders also be treatable interferonopathies?

In a new JIMD Reports Shortcast, Dan Brooks and Fernando Scaglia look at a fascinating case of PNPT1-related mitochondrial disease in which mitochondrial dysfunction was accompanied by activation of the type I interferon pathway.

Treatment with the JAK inhibitor tofacitinib normalised the interferon signature and was associated with improvements in biochemical and clinical measures. As a single case it is necessarily preliminary, but it provides an intriguing example of how understanding the crosstalk between mitochondria and the immune system might open up new therapeutic approaches.

JAK Inhibition in PNPT1-Related Mitochondrial Interferonopathy: A Case Report and Review of Mitochondrial–Immune Crosstalk
Dan Ross Brooks, et al
https://doi.org/10.1002/jmd2.70096

In the fifth, and thankfully final, update from Helsinki, James and Silvia return to provide their inimitable take on the sessions from Thursday with a look ahead to Friday’s sessions. They find themselves looking well beyond the last day, as James speaks with Dr Ina Knerr about preparations for the SSIEM 2027 meeting in Dublin. James gets yet another geography lesson and we hear from a bumper helping of conference attendees finally keen to discuss their posters.

So long Helsinki, it’s been wonderful.

James and Silvia return for the 4th episode of their increasingly confusing daily podcast from the SSIEM 2026 annual meeting in Helsinki. The flood gates have finally opened and we hear from multiple guest about their posters and presentations, and Dr Nazi Tabatadze caught up with James to give him a quick geography lesson and discuss IMD care in Georgia.

You've just one more day to be part of the podcast so say hello or forever wonder about the life of fame and fortune that you let slip away.

Silvia and James reflect on the first full day of the SSIEM 2026 meeting and look ahead to day 2. They check in with Rodrigo to find out why he can't be Helsinki and welcome a number of contributors who encourage you to come and see their posters.

Remember, there are now just two days left to be a part of the podcast no-one asked for... find them, before they find you.