🟣 Save the Date! 🟡. The BIMDG Annual Symposium heads to Oxford in 2026!. 🗓 29th June – 1st July 2026.📍 Oxford, UK.🎓 In the iconic city of spires and scholarship. Join us for three days of science, collaboration, and community at the heart of metabolic medicine. #BIMDG2026

RT @DrJNurse: 🧩 GI bleeding. Cholestasis. Gallbladder polyps. Developmental delay. In the latest Metabolic Mysteries podcast, Dr JP Steven….

RT @NoInvisibles: Es Día Internacional de la #Fenilcetonuria #PkuDay.Enfermedades #Metabólicas #PKU #ComerMeSalePorUnPico.Investigación y a….

RT @drhungo: 🧬 Genetic testing in severe hypercholesterolemia isn’t just academic 👉🏼 it changes lives ❤️ . In a landmark study of 👥 with LD….

🏆 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! 👏

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

🚀 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

🩸 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

🏆 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

Interested in the use of a high protein, high fat diet in GSD 3b. There's a podcast for that!

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

Simon high-lights this report from 2018 of a patient who was found ataxic at 30km of a marathon and subsequently passed away. Their liver was transplanted to an individual who subsequently developed acquired OTC deficiency. #BIMDG2025.

Fascinating (and entertaining) presentation from Simon Tapley about trying to support a patient with a Urea Cycle Disorder to undertake an endurance sporting event. There were technical challenges of assessing ammonia rise in response to exercise, alongside other difficulties

🎤 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.

Wrapping up with a summary of the key points.

🔬 Wrapping up Session 3 at #BIMDG2025:. Heather Church (Willink) explores biomarkers in lysosomal disease – from diagnosis to therapeutic monitoring. Expect fresh assays, complex cases, and a reality check on what biomarkers can and can’t do. #LSD #IMD #RareDisease

Our Chair gave a wonderful overview of the role of HSCT in IMD ranging from more traditional interventions such as in storage disorders but also touching on its utility in conditions like MNGIE and Lysinuric Protein Intolerance.

RT @spinacademics: Neuroinflammation can have a strong genetic basis. A strong exposition of this theme by the charismatic @KarliOguz at #S….

🥣 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

💉 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 @afocoa