iiinova — where your digital self keeps evolving

Nathan Cantley @nathanwpcantley.bsky.social · 25/08/2026

Agreed! The lack of agreement of that perspective with the discussion on the stage was striking!

Nathan Cantley @nathanwpcantley.bsky.social · 25/08/2026

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...

open.spotify.com

Helsinki: Day 1 - Geeks, mentors and Azerbaijan

JIMD Podcasts · Episode

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Nathan Cantley @nathanwpcantley.bsky.social · 25/08/2026

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

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Nathan Cantley @nathanwpcantley.bsky.social · 25/08/2026

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

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Nathan Cantley @nathanwpcantley.bsky.social · 25/08/2026

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...

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Nathan Cantley @nathanwpcantley.bsky.social · 25/08/2026

After a brief interlude about Pompe where ERT outcomes are better but again dependent on individual trajectory, we are on to a debate (love those) on a case study debating should we continue or stop ERT. #ssiem (I am sure @jimd-editors.bsky.social would be rolling out a good image here to frame ;) )

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Nathan Cantley @nathanwpcantley.bsky.social · 25/08/2026

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

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Nathan Cantley @nathanwpcantley.bsky.social · 25/08/2026

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 ?

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Reposted by Nathan Cantley

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 04/08/2026

New JIMD Podcast: can metabolic nutrition move beyond biochemical control towards lifelong health? Júlio César Rocha, Anne Daly & Anita MacDonald discuss protein substitutes, new therapies, point-of-care testing and AI. open.spotify.com/episode/5gAB... or wherever you like to listen

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Nathan Cantley @nathanwpcantley.bsky.social · 24/08/2026

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 🤣

open.spotify.com

Helsinki: Day 0 - Saunas, sequencing and special sessions

JIMD Podcasts · Episode

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Nathan Cantley @nathanwpcantley.bsky.social · 30/06/2026

Don't know if it is self eating snake for me to post a photo of Dr James Nurse's social media post which led to uncovering a previously lesser recognised association between common Sx (headache) and rare syndrome (hyper-NH3)? Great find to disseminate education @jimd-editors.bsky.social #bimdg2026

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 16/01/2026

BIMDG 2026 is open! Join us in Oxford for an engaging programme, new ideas, and the chance to reconnect with colleagues. Pre-meeting: 29 June Symposium: 30 June–1 July Leonardo Royal Hotel, Oxford Abstract deadline: 15 April, 10:00 👉 www.bimdgconference.co.uk #BIMDG2026

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 30/06/2026

How closely do biochemical markers reflect clinical outcomes in cblC disease? In this JIMD Shortcast, first author Arty Selvanathan discusses their latest study and what it means for understanding disease severity and patient monitoring. 🎧 Listen now. open.spotify.com/episode/3P9U...

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Nathan Cantley @nathanwpcantley.bsky.social · 30/06/2026

Time for #bimdg2026! We are kicking off conference with a session on mitochondrial disorders from @ouhospitals.bsky.social - an impt group which could fly under radar when focusing on single Sx (forgetting the whole person)/those with diagnostic odesseys w/o an ans. @jimd-editors.bsky.social

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 15/05/2026

Could empagliflozin become first-line therapy in GSD Ib? This nationwide real-world study reports reduced infections, hospital admissions and IBD activity in patients treated with empagliflozin including as first-line monotherapy. doi.org/10.1002/jimd...

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Reposted by Nathan Cantley

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 21/05/2026

New consensus guidance on Adult Refsum disease from the Global DARE Medical & Scientific Committee. Covers diagnosis, dietary management, acute decompensation, surgery, pregnancy, and long-term surveillance doi.org/10.1002/jimd... #RareDisease #IMD #Neurology #Ophthalmology

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Reposted by Nathan Cantley

For the Love of Missy @missybbbobtail.bsky.social · 02/04/2026

I don’t always vomit on the floor but when I do, I do it right where I’m certain you’ll step in it.

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Reposted by Nathan Cantley

Rare Disease Day Official @rarediseaseday.bsky.social · 26/02/2026

🎙️ In Rare Disease Day week, #EURORDISRareOnAir shares its final episode, Stephanie’s story. Her daughter’s fight with #LIG4 syndrome shows a mother’s love, courage, and hope through misdiagnoses, travel, and the search for a cure. 💜 🎧 Listen now: www.eurordis.org/rare-on-air

“Rare on Air Stories” in white text over blue, purple, and green painted streaks, with a microphone icon behind Stephanie in a while shirt, and the text: “Stephanie, Episode 9.”

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Rare Disease Day Official @rarediseaseday.bsky.social · 28/02/2026

🌍 It’s #RareDiseaseDay 2026! 💜 Today we stand with the 300 million people living with a rare disease. Together, we’re showing our colours, raising awareness, and inspiring change by talking about what equity means to us. 👉 Read more: go.rarediseaseday.org/NEWS

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Nathan Cantley @nathanwpcantley.bsky.social · 28/02/2026

#showyourstripes today on #rarediseaseday @medicsforrare.bsky.social @rarediseaseday.bsky.social for people living with a rare disease. Lots of work in rare disease clinics and laboratories helping with diagnosis but more work to be done.

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Reposted by Nathan Cantley

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 27/02/2026

Ahead of #RareDiseaseDay (28 Feb), an important reminder: rare diseases can have rare presentations. Lynch et al. report adult-diagnosed GSD1b in siblings with prolonged fasting tolerance and minimal neutropenia doi.org/10.1002/jmd2... #RareDisease #GSD1b #IMD #GenomicMedicine

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Reposted by Nathan Cantley

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 18/02/2026

Do adults with early-treated #PKU show altered brain ageing? MRI-based brain age modelling reveals a higher insular brain age gap (~6 years) despite early treatment — pointing to region-specific vulnerability rather than global ageing. 🔗 doi.org/10.1002/jimd... @emmavardy2.bsky.social

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 09/02/2026

Women with Anderson–Fabry disease are still being missed. This meta-analysis shows genetic testing detects ~4× more cases than enzymatic tests in high-risk women — especially after stroke. Normal enzymes ≠ no Fabry. doi.org/10.1002/jimd... #FabryDisease #RareDisease

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Reposted by Nathan Cantley

Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 03/02/2026

Primary mitochondrial disease supplement prescribing is 95%+ common, but globally non-uniform. No universal cocktail. Age & phenotype shape practice. Big Atlantic differences. Real risks of harm. Listen now: open.spotify.com/episode/2wdU...

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Nathan Cantley @nathanwpcantley.bsky.social · 16/06/2025

First conference on the bluer side of the sky I think - anyone else here in Edinburgh? #bimdg2025

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 02/12/2024

After a brief hiatus, the Footprints series returns with its 5th episode: Psychiatric Presentations of Inherited Metabolic Disease. Apple: podcasts.apple.com/gb/podcast/j... SoundCloud: on.soundcloud.com/KaomQhyiWmuF... #inheritedmetabolicdisease #IMD #IEM #raredisease #footprints

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Journal of Inherited Metabolic Disease @jimd-editors.bsky.social · 23/11/2024

New podcast, Dr Lourdes Desviat discusses RNA based therapies in Urea Cycle Disorders. Listen on: Apple: podcasts.apple.com/gb/podcast/jimd-… Spotify: open.spotify.com/episode/0JgwpSKRNu… #mRNA #UCD

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Nathan Cantley @nathanwpcantley.bsky.social · 17/11/2024

Well this is nice and calm isnt it? Shall we all stay here instead? #nothankselon

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