CE17 - Recherche translationnelle en santé

Glycogen storage Disease type III modeling using Stem cells – GlaDiS

Submission summary

Glycogen storage disease type III (GSDIII) is a rare genetic disorder due to mutations in AGL gene encoding the glycogen debranching enzyme (GDE). This enzyme plays a key role for the degradation of glycogen into glucose in the liver and muscles. Mutations in AGL gene lead to toxic glycogen accumulation in these organs inducing metabolic disorders during childhood and a generalized muscle weakness in adulthood. The aim of the GlaDiS project is to perform a disease modeling of GSDIII using induced pluripotent stem cells to (i) understand the mechanisms implicated in the hepatic and muscular physiopathology of GSDIII by RNA sequencing and (ii) evaluate the efficacy of pharmacological compounds to prevent glycogen accumulation in these tissues by high-throughput screening and artificial intelligence analysis.

Project coordinator

Madame Lucile Hoch (CENTRE D' ETUDE DES CELLULES SOUCHES)

The author of this summary is the project coordinator, who is responsible for the content of this summary. The ANR declines any responsibility as for its contents.

Partner

GENETHON
CECS CENTRE D' ETUDE DES CELLULES SOUCHES

Help of the ANR 210,712 euros
Beginning and duration of the scientific project: September 2022 - 36 Months

Useful links

Explorez notre base de projets financés

 

 

ANR makes available its datasets on funded projects, click here to find more.

Sign up for the latest news:
Subscribe to our newsletter