Important presentation by Terry Derks at #SSIEM2019 on gene therapy in GSD1a

Yarın büyük gün. Glikojen Depo Hastalığı tip 1A(GSD1A) için SOSC ekibi olarak önerdiğimiz gen terapisi projesinin sunumunu takımım adına fotoğrafta gördüğünüz bu çok değerli bilim insanlarına yapacağım. Her şeyden önce sağlık kazansın diyorum. SOSC

$rare data on GSD1a AAV therapy, looking at drop in cornstarch usage. Interesting how some drop but rise again.

#batıkşehir #kekova #üçağız ve #gsd1a taşıyıcısı bir anne 😊

$beam This really irritates me and illustrates yet another example of why Evans needs to be fired or resign today! Straight from the S1 filing 5 damn years ago they cite 900 GSD1a R83C patients in the US. Then yesterday as we are approaching IND filing they mysteriously state in

Nuestro 'algo nuevo' de hoy incluye un #visualabstract
El catabolismo deficiente de VLDL relaciona la hipoglucemia con la hipertrigliceridemia en la eag Ia
Hoogerland, @TGJDerks Oosterveer et al
#GSD1a
https://t. Co /iSMhPTTXsf

GSD 1a vs GSD 1b
GSD1b has a few additional symptoms compared to GSD1a:
- bowel issues (eg IBD)
- blood cell anomalies (eg neutropenia -> severe infections)

#GeneChat #metabolics

Hastane günlüklerine +1 daha ekledik.Beslenme sorunu yaşıyoruz yine.Hafif hipoglisemi ile atlatmayı diliyoruz🤲🏻Emir bugün mekanda online yani 😕❤ #akdenizuniversitesihastanesi #gsd #gsd 1a #glikojendepo #hipoglisemi

New in #JIMDReports
Classifying molecular phenotypes of G6PC variants for pathogenic properties and to guide therapeutic development
Kathleen L. Plona et al review variants of unknown significance in #GSD1a Association for Glycogen Storage Disease
doi.org/10.1002/jmd2.1…

BEAM-301
- US GSD1a population (US population * .00001%)
- TAM of 2,532
- SAM of 100%, SOM of 70%.
- 1,772 total patients treated, 650k cost per.

BEAM-302
- US A1ATD population
- TAM 84,000
- SAM of 100%, SOM of 45%
- 37,800 total patients treated, 750k cost per.

(4/11)

Hye Ri Kand, #SIMD18 Travel Awardee on bezafibrate to enhance GSD1a gene therapy in murine model. Reduces size, glycogen in liver, improves enzyme activity with better glucose control vs gene Rx without Bz. May improve efficiency of AAV therapy.

Finally our 'something blue' is from the all #openaccess #JIMDReports
Glycogen storage disease type 1a in the Ohio #Amish
Ethan M. Scott, et al
doi.org/10.1002/jmd2.1…
#GSD1a #glycogenstoragedisease

Our 'something new' was accepted just this week:
Blood glucose trends in glycogen storage disease type Ia: A cross-sectional study
Tokiko Fukuda, et al
doi.org/10.1002/jimd.1…
#GSD1a #glycogenstoragedisease

7/ I went down a rabbit hole on GSD1a for a long time given it would have been a great analog to look at in this context. Do they have higher atherosclerosis? As it turns out -- not really...

10/Beam Therapeutics is also advancing $BEAM-301 - a liver-targeting LNP formulation of base editing reagents designed to correct the R83C mutation, the most common disease-causing mutation that results in the most severe form of GSD1a.

Meet Simon & Penny, globetrotting siblings traveling the world with a few extra suitcases of supplies and parents who’ve become experts in GSD1a. It's our mission to expand our portfolio to unlock the potential of gene therapy for families everywhere: bit.ly/3j0gRzv

#TeamAldevron fosters a patient-driven culture through learning about the patient experience. We completed the #CornstarchChallenge to experience what patients with GSD1a, a severe genetically inherited glycogen storage disease, undergo every few hours.

polyadenine insertion disrupting the G6PC1 gene in German Pinschers with #glycogen_storage_disease type Ia (GSD1A) buff.ly/3DkHVUo

Now formatted for publication:
Impaired Very‐Low‐Density Lipoprotein catabolism links hypoglycemia to hypertriglyceridemia in Glycogen Storage Disease type Ia
Joanne A. Hoogerland, @TGJDerks et al
#GSD1a
doi.org/10.1002/jimd.1…