🔗 Learn more about SSIEM 2026:
www.ssiem2026.org

🏛️ Society for the Study of Inborn Errors of Metabolism (SSIEM):
www.ssiem.org

#SSIEM2026 #RareDisease #Genomics #MachineLearning #NaturalLanguageProcessing #GenomicMedicine

Final, and thankfully final, dispatch from Helsinki! James & Silvia look back at Thursday, preview Friday and speak to Ina Knerr about Dublin 2027.

With Tumelo Satekge, Tim Fazio, Miriam Güra, Caroline Glatthard & Elif İşler Soylu.

🎧 on.soundcloud.com/pZ2JpVMKAryP...

#SSIEM2026

Ep 4 from #SSIEM2026 🇫🇮

Guests! Posters! FAOD! NPC! Physics! And Dr Nazi Tabatadze gives James a geography lesson while discussing IMD care in Georgia 🇬🇪

Plus: apparently we carry enough fat energy for 40 marathons. No excuses at Run Club. 🏃

🎧 on.soundcloud.com/x802Ph8JOaXP...

Greetings from the first day of the 2026 SSIEM Conference in Helsinki!

Tobias S. Hagedorn reports on a lively debate about strict versus liberal approaches to adult PKU care—and the need to balance safety with treatment burden.

#SSIEM2026 #adultPKUawareness

Loving the @jimd-editors.bsky.social podcast to #ssiem2026 pointing me in the direction of some good posters. I also found excellent posters on topics like MADD-like biochem masking other conditions e.g. B2 disorders, and dietetic management of AMACR deficiency open.spotify.com/episode/56Kz...

Maybe something that sits at the intersection of the debate - how does our individual clinician perspectives on this topic influence our practice. Good reflection on ourselves as clinicians from Prof van Spronsen. #ssiem2026

On to the joint adult and dietitians meeting on the quandary (depending on who you ask) of lifelong mgt of PKU. Despite intl guidelines we aren't intl'ly agreed on what to do. @jimd-editors.bsky.social did a very pertinent podcast related to this topic! #ssiem2026 bsky.app/profile/jimd...

The fantastic skills of the dietitians highlighted by Charlotte Ellertons talk in plenary 1 in trying to make sense of biomarkers in foeto-maternal unit where you are juggling physiological maternal changes as well as the super added IMD effect. A big MDT gets bigger when incl O&G too! #ssiem2026

#SSIEM2026 starts today! Whether you're attending or can't make it this year, stay informed on developments in late-onset Pompe disease with this on-demand symposium presented by Benedikt Schoser, Priya Sunil Kishnani, and Tahseen Mozaffar, available free on Medthority
https://ow.ly/qY6Z50ZF303

Hans-Jurgen Christen kicks off the Adult clinicians session with the hard hitting topic of the ethical considerations of LSD ERT discontinuation. Qu's rightly ask if we focus too much on ERT in the discussion and lose holistic view. #ssiem2026 Is there an official # @jimd-editors.bsky.social ?

.Prof Steeds from Birmingham highlights the against of stopping ERT that IF we can achieve stability then we can pile on other CV risk modifiers to extend good health. #ssiem2026

.Prof Langeveld highlights the pro statement on discontinuing ERT highlighting there are plenty of other cardio treatments used in holistic care and it won't get to where it is needed. #ssiem2026

.Rebuttals highlight cohorts showing stability are too heterogenous on initiation points - you need matched cohorts. Further rebuttal from Prof Steeds highlights we have endless observational single centre cohorts now showing immortal time bias (I need to read up more on that one) #ssiem2026

.I feel there may have fairly equal split/not as vast as I was expecting in the room when hands went up (maybe a few more in favour of stopping). Questions have highlighted that again our measurea of markers need to be optimised. #ssiem2026

2x from Amsterdam UMC show RWD from cohorts of Fabry do not stack up benefits of ERT across end organ biomarkers. Caught in a catch-22 of should start we earlier...but manifestations start in middle age anyway so are we changing anything or measuring disease course in diff ways? #ssiem2026

Listening to the excellent @jimd-editors.bsky.social podcast previewing the SSIEM 2026 symposium in Helsinki that I am excitedly on my way to. #ssiem2026 open.spotify.com/episode/5aZA.... It is soothing my nerves as the British railway network slows my journey to Heathrow 🤣

🇫🇮 The #SSIEM2026 Abstract Book is HERE.

With Helsinki just over a week away, start exploring the science before the meeting begins: oral communications, posters, e-posters & more across 27 areas of metabolic medicine.

📖 onlinelibrary.wiley.com/doi/epdf/10....

25–28 August | Helsinki
#JIMD #SSIEM