BIMDG

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 👉 bimdgconference.co.uk #BIMDG2026

I'm desperate for a controversial podcast but my guests, Julia Neugebauer and Shamima Rahman, kept it balanced. This podcast won't settle the argument about the mito cocktail but it does provide background as to who is doing what and where. open.spotify.com/episode/2wdUvZ… #mitodisease

New JIMD Podcast episode out now! I speak with Jean-Marie Saudubray and Manuel Schiff about six decades of progress in IMD, from early chromatography to genomics and the changing identity of the field. A rare, fascinating look at our history. 🎧 open.spotify.com/episode/5ve2rg…

New in JIMD: shifting IEM nutrition from control → optimisation. Personalised natural protein + adequate energy, targeted AA supplementation, and a lifespan framework supported by tech/microbiome/pharmacologic tools. DOI: doi.org/10.1002/jimd.7… #IMD #IEM #JIMD

A baby with CPS1 deficiency, a world-first use of in vivo gene editing, and the emotional, ethical, and scientific questions that follow. Listen to the latest podcast, with Kiran Musunuru, Rebecca Ahrens-Nicklas, & Julien Baruteau. open.spotify.com/episode/3m2rOI… #CRISPR #raredisease

A 61-year-old with rhabdomyolysis, prolonged QT, and recurrent fatigue… but what ties it all together? @NotoriousEMG joins Metabolic Mysteries to unravel a case that proves you’re never too old for a metabolic diagnosis. 🎧 New episode out now | on.soundcloud.com/l8QjmKo5JFvA5Y…

Maybe we need a geriatric group!

We talk with Detlev Boison about adenosine kinase, an ancient enzyme now seen as an epigenetic drug target. From epilepsy to cancer, could ADK open the door to disease-modifying therapy? Spotify: open.spotify.com/episode/1YRsCq… Soundcloud: soundcloud.com/user-109006120…

🎧 New #FootprintsOfIMD episode! Eva Morava chats with Dakota Peacock & @DariusFakhari about movement disorders in IMD: from chorea to tremor, diagnosis to long-term care. 🎙️ Listen: open.spotify.com/episode/0xdFQQ… 🔎 Search “JIMD Podcasts” #IMD #neurogenetics

🎙️ New JIMD Podcast! Eva Morava & Irena Muffels are back to ask a massive question: How do we treat all the CDGs? Organoids, AI, basket trials & the three pillars shaping the therapeutic future of congenital disorders of glycosylation. Listen now: open.spotify.com/episode/2OkL0T… #CDG

New #JIMDPodcast out now! Sabine Fuchs and Eva Hoytema join us to explore the growing and complex world of aminoacyl-tRNA synthetase deficiencies, from diagnostic puzzles to multisystem phenotypes. Listen wherever you get your podcasts including Spotify: open.spotify.com/episode/4qpQxU…

🧩 GI bleeding. Cholestasis. Gallbladder polyps. Developmental delay. In the latest Metabolic Mysteries podcast, Dr JP Stevens walks us through a challenging case that kept the team guessing. Can you spot the metabolic diagnosis? 🎧 open.spotify.com/episode/10oPcR… #gastrotwitter

Es Día Internacional de la #Fenilcetonuria #PkuDay Enfermedades #Metabólicas #PKU #ComerMeSalePorUnPico Investigación y ayudas‼️ #vivirsinlímites #PKULiveUnlímited #PKUDAY2023 Conoce+ @Metabolicos_es👇 metabolicos.es Gr. @funcolehf👇@InforAliber

@NEJM @DGlaucomflecken @AhrensNicklas can you request that @DGlaucomflecken does your NEJM paper. Finally the clinical geneticist would have their moment to shine. No one puts ClinGen in the corner.

In the latest video in our partnership with @DGlaucomflecken, the BALANCE trial comparing 7 days of antibiotic treatment with 14 days of treatment in patients with bloodstream infection is explained. Access the article for free: nej.md/DrG19

🧬 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. Cascade screen, treat young. #Medtwitter #cardiotwitter #meded #FOAMed @ACCinTouch 🔗 doi.org/10.1016/j.jacc…

🟣 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

@NathanWPCantley I dread to think what the carbon footprint of the Twitter activity was!

@BIMDG You have certainly made good use of AI this conference!

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

🏆 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