CE17 - Recherche translationnelle en santé

Translational research targeting the PTCHD1 pathway involved in Neurodevelopmental Disorders – ASDecode

Submission summary

Improving the understanding of the biology underpinning abnormal brain development and connectivity in Autism Spectrum Disorders (ASD) is a major challenge in translational research in psychiatry. The integration of studies across different levels of analysis (genetic, functional, clinical, brain imaging) can provide means and precise criteria for patients’ stratification, and development of therapeutic perspectives. This is what ASDecode aims to make for the PTCHD1 gene mutated in ~1% of patients with ASD. We propose a translational research program using integrative methodologies on complementary in vitro neuronal (neurons, hiPSCs) and in vivo preclinical (mutant mice) models to (1) Understand the pathophysiological mechanisms of PTCHD1 mutations using multi-omic approaches, and (2) to evaluate innovative preclinical therapeutical approaches. The ASDecode project will inform on strategies to establish biomarkers and future therapeutic intervention for patients with PTCHD1 mutations.

Project coordination

Frédéric Laumonnier (IMAGERIE ET CERVEAU)

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.


IPMC Institut de pharmacologie moléculaire et cellulaire
IGBMC Institut de génétique et de biologie moléculaire et cellulaire (UM 41 - UMR 7104 - UMR_S 1258)

Help of the ANR 532,843 euros
Beginning and duration of the scientific project: December 2020 - 48 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