Twitter account for British Inherited Metabolic Disease Group. Tweets by Dr James Nurse (@drjnurse) and Dr Rachel Carling (@rachblacklabel).
Joined March 2016
- Tweets 6,682
- Following 313
- Followers 1,202
- Likes 10,223
470 Photos and videos
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
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BIMDG retweeted
23 Dec 2025
New JIMD Podcast
I speak with Jean-Marie Saudubray and Manuel Schiff about six decades of progress in inherited metabolic diseases from early chromatography to genomics and the changing identity of the field.
A rare, fascinating look at our history.
open.spotify.com/episode/5ve…
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BIMDG retweeted
Jan 18
IMD isn’t about making the final diagnosis in ED - it’s about asking “could this be metabolic?” Stop feeds, start dextrose, check ammonia, call for help.
Time = brain.
#thinkammonia
doi.org/10.1002/jmd2.70064 #FOAMed #MedEd #EmergencyMedicine
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BIMDG retweeted
Jun 13
Need a crash course in an inherited metabolic disease?
Silvia & Rodrigo’s IMD Research Round-Up series covers:
CDG, MMA, redox metabolism, GSD, newborn screening, lysosomal disease, metabolomics and mitochondrial disease.
#RareDisease #IMD #MedEd
m.soundcloud.com/user-109006…
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BIMDG retweeted
May 27
It was nice to have the opportunity to talk about disease spectrum and emergent phenotypes in DBP-D in JIMD Podcast @JIMD_Editors
Check it out! 👇🏼
open.spotify.com/episode/06Q…
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BIMDG retweeted
May 5
57-year-old. Confusion vomiting → rapid deterioration.
Stroke? Infection? Something else?
In this metabolic mystery, Dr Mark Wijnen (Erasmus MC) plays detective 🕵️♂️
One for adult clinicians!
Listen: open.spotify.com/episode/3tx… #medtwitter
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BIMDG retweeted
Feb 4
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/2wd…
#mitodisease
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BIMDG retweeted
23 Dec 2025
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/5ve…
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BIMDG retweeted
12 Dec 2025
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.70123
#IMD #IEM #JIMD
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BIMDG retweeted
4 Nov 2025
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/3m2…
#CRISPR #raredisease
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BIMDG retweeted
28 Oct 2025
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/l8QjmKo5JF…
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Maybe we need a geriatric group!
23 Oct 2025
🧬 Not just for toddlers and textbooks!
Inherited metabolic diseases can be diagnosed well into older age, sometimes even in the 80s & 90s.
Listen to the latest #JIMDPodcast with François Maillot & Ida Schwartz 🎧
🔗 podcasts.apple.com/gb/podcas…
#ThinkMetabolic #RareDiseases #IMD
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BIMDG retweeted
9 Sep 2025
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/1YR…
Soundcloud:
soundcloud.com/user-10900612…
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BIMDG retweeted
2 Sep 2025
🎧 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/0xd…
🔎 Search “JIMD Podcasts”
#IMD #neurogenetics
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BIMDG retweeted
21 Aug 2025
🎙️ 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/2Ok…
#CDG
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BIMDG retweeted
13 Aug 2025
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/4qp…
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BIMDG retweeted
2 Jul 2025
🧩 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/10o…
#gastrotwitter
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BIMDG retweeted
28 Jun 2025
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
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BIMDG retweeted
19 Jun 2025
🧬 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.2016.…
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🟣 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
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