Many runners in Essex will be doing their own marathons this weekend to raise money for excellent causes, after the official London Marathon was restricted to professional athletes only. Kieron Stubbings will be running from Southend to Chelmsford in aid of AGSD-UK .

GSD awareness week
Current groupings of Glycogen Storage Diseases (some have been recategorised as subsets of another GSD as the science advances)
These are under diagnosed as so rare
Contact AGSD-UK for info
#HopeTravels #Pompe
#AGSDUK #GSDAW2020
agsd.org.uk/all-about-gsd/…

This time in 1 month, we’ll be #hikingforhugo & well on our way up BenNevis for the National 3 Peaks challenge (in 24hrs) to raise money for AGSD-UK. Read our Hugo’s #glycogenstoragedisease story & sponsor if you can (TY!) uk.virginmoneygiving.com/HikingForHugo/1 @DrNathanJSmith Andy Kingsnorth

We usually get together in some way in the UK 🇬🇧 to commemorate Pompe day tomorrow, but can't this year for obvious reasons. This is usually organised by Ben Parker and the PST.
Restrictions won't stop us celebrating from home, so keep calm and carry on 💚💙
#IPD2021 #AGSDUK

Super proud of all the members of our team who run the #gnr2022 yesterday supporting AGSD-UK. It was a tough but lovely run. JWMDRC

Very happy to have presented the preliminary results of FORTIS a phase I/II clinical trial with gene therapy in #Pompe disease today at #WORLDSymposia . First results show stabilization of the disease even in patients who stopped ERT after infusion. JWMDRC AEEPompe - Asociación Española de Enfermos Pompe AGSD-UK

This week is #MetabolicWeek2020 raising awareness for all inherited metabolic conditions! Check Metabolic Support UK for more information and ways to spread awareness!
#AGSDUK

On International Nurses Day, I would like to thank all our Metabolic patients and families and the teams who help support them BWC NHS Trust NSPKU Eا𝖔n М̶ߎsƙ༝̲ MPS Society UK, here for those with rare diseases AGSD-UK and all my team @catastewart Louise Simmons Kirsty and Rachel

Dr Florence Kinnafick AGSD-UK @DrNathanJSmith Andy Kingsnorth Lauren Sherar Great weather for a training hike in the Peaks this past wknd!

Getting our groove on at the drumming workshop at AGSD-UK #GSD #rhythm

New research from the JIMD
Towards values-based healthcare for inherited metabolic disorders: an overview of current practices for persons with liver glycogen storage disease and fatty acid oxidation disorders
Annieke Venema, @TGJDerks et al
doi.org/10.1002/jimd.1…
AGSD-UK

Mental Wellbeing and Pompe Disease booklet now available! Great job on putting this together! AGSD-UK
Click the link to download you free PDF copy!
tinyurl.com/wellbeingpompe
#pompe #raredisease awareness #mentalhealth #internationalpompeday #raredisease

Loved hearing the inspiring stories of those living with GSD at AGSD-UK

Ready for day two of AGSD-UK conference- learning about gene therapy #GSD

The JWMDRC Great North Run team is fundraising for AGSD-UK.

Thanks to local businesses for generously donating £600 of goodies to our raffle (draw 9th Sept)!

See tag/comment for list of businesses.

Newcastle University staff can buy tickets by emailing [email protected]

New #openaccess content in #JIMDReports
Glycogen storage disease type 1a in the Ohio Amish
Ethan M. Scott, et al
doi.org/10.1002/jmd2.1…
Glikojen Depo Hastalığı-Glycogen Storage Disease AGSD-UK #GSD1a #glycogenstorage disease

Our very own Dr Freya passing on her knowledge AGSD-UK

#PurplePeople #ConferenceChildcare #eventchildcare

#podcast
Shortcast: Glycogen storage disease type IIIa in pregnant women
Demi Beneru, Michel Tchan and Kate Billmore

Soundcloud: soundcloud.com/user-109006120…

Apple: podcasts.apple.com/sa/podcast/sho…

Spotify: open.spotify.com/episode/0wmB1U…
Glikojen Depo Hastalığı-Glycogen Storage Disease AGSD-UK #GSDIII #GSD3

Dr Dwight Koeberl (Duke Clinical and Translational Science Institute)joins the #podcast to discuss gene therapy in Glycogen Storage Disorders.

Spotify: open.spotify.com/episode/5JZoDR…

SoundCloud: soundcloud.com/user-109006120…

Apple: podcasts.apple.com/gb/podcast/jim…

#GSD #genetherapy Glikojen Depo Hastalığı-Glycogen Storage Disease AGSD-UK Sophie’s Hope Foundation - CureGSD1b

New #openaccess content from #JIMDReports
Patient-reported outcomes on empagliflozin treatment in glycogen storage disease type Ib: An international questionnaire study
Sarah C. Grünert, et al
doi.org/10.1002/jmd2.1…
#GSD1b #SGLT2 #empagliflozin @TGJDerks AGSD-UK