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

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.