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Neuroinflammation can have a strong genetic basis. A strong exposition of this theme by the charismatic Kader Karli Oguz at #SPIN25, the stage of the stalwarts. White matter disorders need to be mastered with the masters

💥Biomarker brilliance on Day 2! Dr Wendy Heywood (GOSH/UCL) introduces Immuno-TADA: a multiplex mass spec platform transforming how we monitor anti-drug antibodies in Fabry disease & beyond. ADAs, IgG4, IgA, complement... and a teaser for anti-AAV. Don’t miss it! #BIMDG2025

💉 Faster, smarter, better ERT? Antonio Ochoa-Ferraro, the UK’s first Consultant Pharmacist in IMD, shares real-world data on enzyme replacement therapy across UK centres - from initiation to infusion rates 💪 #BIMDG2025 #LSD #ERT #RareDisease Antonio Ochoa

🥣 Dietitians take the spotlight (again!) at #BIMDG2025 with a second packed, parallel session👏 🍼 Liquid valine/isoleucine 📊 CGM in GSD 🤰 BH4 in pregnancy 🥾 PKU in Keswick 🧠 Citrin case insights Chaired by Carol Gosling – this session is not to be missed! #IMD

🎤 Rapid-fire brilliance incoming at #BIMDG2025! 🧬 Ferroptosis & mitochondria 🧪 Lysosomal lab futures 💊 Migalastat in Fabry 🧫 Pompe desensitisation 🏃 OTC & marathon running 🥜 VLCFA biomarkers 🧉 GSD III liver outcomes 🧒 HoFH in kids Short talks, big topics. Don’t blink.

James Cooper explains how peanut oil can give rise to false positives in very long chain fatty acid results... but the Willink now have a way to clarify these false positives. #BIMDG2025

Interested in the use of a high protein, high fat diet in GSD 3b. There's a podcast for that! soundcloud.com/user-109006120…

🏆 Galea Prize Lecture at #BIMDG2025 Prof Brian Bigger (Edinburgh) shares the latest in HSC gene therapy for childhood dementias, including Sanfilippo disease (MPS III). From vector design to brain delivery — a visionary talk on transforming care for genetic brain disease. #LSD

🩸 What’s next for newborn screening in the UK? Dr Graham Shortland OBE — paediatrician, rare disease advocate & NSC Vice Chair — delivers a key update on the evolving UK newborn screening landscape. Genomics, equity, & the future of population health. #RareDisease #BIMDG2025

🚀 Gene therapy for IMDs is evolving at pace — but which vector, which approach, and when? Dr Julien Baruteau explores the latest in viral, non-viral & RNA therapies, and how to translate them into real-world impact for rare disease. #BIMDG2025 #GeneticMedicine #GeneTherapy

The sun’s still shining in Edinburgh, but #BIMDG2025 is wrapping up. From gene therapy to newborn screening, from peanuts to proteomics - and one very enthusiastic ceilidh - thank you to all who made it brilliant. Safe travels home! 🌄🧬💃 #metabolicmedicine #raredisease

🏆 Huge congratulations to our #BIMDG2025 prize winners! 🎤 Best Oral Presentations: Simon Tapley & Kevin Kuriakose ⚡ Best Flash Presentation: Jonathan Gibson 🌱 Best Trainee Presentation: Sharon Colyer Incredible work from all - thank you for sharing your science! 👏

🧬 Genetic testing in severe hypercholesterolemia isn’t just academic 👉🏼 it changes lives ❤️ In a landmark study of 👥 with LDL-C ≥190 mg/dL, ~1 in 5 had an FH mutation. Carriers had CAD 22 years earlier ‼️ & ~3x risk 👉🏼 despite similar LDL. 💡 Early ID = early action.