@BIMDG

Twitter account for British Inherited Metabolic Disease Group. Tweets by Dr James Nurse (@drjnurse) and Dr Rachel Carling (@rachblacklabel).

bimdg.org.uk
Joined March 2016
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BIMDG@BIMDGJan 16
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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Finally, the winner of the prize for the best Flash Presentation was Dr Robert Barski, who presented on Screening for MCADD - False Positive or False Negative? I #BIMDG2026
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The winner of the best oral presentation was Dr Cameron Arbuckle who presented on the Management and Outcomes of Pregnancy in Isovaleric Academia #BIMDG2026
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The meeting closes with the Prizes. The winner of the Trainee Presentation Prize was Dr Sophie Manoy who presented a series on sudden death in children with undiagnosed IMD. #BIMDG2026
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Rachel Carling delivers the last talk of #BIMDG2026 explaining how the addition of one more disorder to newborn screening (Tyrosinemia Type 1) led to fundamental changes in how all newborn screening labs work
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If you want to hear more from Professor Bonham, he was a guest on the JIMD Podcast when they spoke about the Generation Study and the shift that Genomic Newborn Screening could bring. #BIMDG2026 open.spotify.com/episode/1yl…
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The UK currently screens for 10 disorders on the newborn blood spot, behind many other European nations. The Equipoise project is looking at whether this should change. #BIMDG2026 nationalscreening.blog.gov.u…
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There’s marked variability in newborn screening availability worldwide. Prof Bonham demonstrates how only 30% of babies have access to newborn screening. Treatment for congenital hypothyroidism (for example) is cheap and simple #bimdg2026
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The 2026 winner of the Galea Prize is Prof Jim Bonham, and he shares his thoughts on Newborn Screening - an intervention that opens the door to treating Inherited Metabolic Disorders #BIMDG2026
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The final session of #BIMDG2026 begins with Radha Ramachandran & Adam Lloyd talking about Ammonia, assays and the importance of getting the number right. #thinkammonia but can you trust the ammonia!?
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It's all change at #BIMDG2026 with the parallel sessions opening the 2nd day. Attendees choose from Adult or Paediatric IMD, Clinical and Scientific Trainees, pharmacists, dieticians, nurses and psychologists. Something for everyone... if you like IMD
🤖 Made with AI
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In the flash presentation session, a heated discussion about Screening for MCADD - should we follow the genetics or the biochemistry? #bimdg2026
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A flash presentation from Jenny Cook on an oft overlooked topic - the impact of the menstrual cycle on IMD, in this case leucine levels in MSUD. In this case it was reduced intake during menses that drove symptoms as opposed to a clear hormonal association. #BIMDG2026
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The final session of the #BIMDG2026 is the flash presentations.
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The afternoon of Day 1 at #BIMDG2026 opens with the Oral Presentations. Professor Derralynn Hughes opens proceedings discussing BRILLIANCE.
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Next up is a talk that would be just as at home at the @heartukcharity meeting taking place in Nottingham Undetectable Beta-lipoproteins in a Family with Definite Familial Hypercholesterolaemia from Dr Laura Hancox. The challenge of the FH pt with very low LDL cholesterol!
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Finally, Dr Alistair Horman tackles the challenge of addressing what we can and cannot tell from the CSF AA analysis with: The significance of CSF Glutamine
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BREAKING NEWS Join us for a morning walk or 5k run. Meet at 8am in the main hotel reception. #BIMDG2026 #runBIMDG
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