Therapeutic area: CNS, Psychiatric Disorders
Disease: Autism Spectrum Disorders
Monogenic inroad: SHANK 3
Cellular Model: Patient-derived cortical (glutamatergic) neurons
Project Origin: I-Stem, Dr. Alexandra Benchoua & Prof. Marc Peschanski
Medical need: Approximately 1 % of children is diagnosed with Autism spectrum disorder (ASD). ASD is a complex developmental condition that involves persistent challenges in social interaction, speech and nonverbal communication, and restricted/repetitive behaviour. ASD has multi-factorial origins with a strong genetic influence. SHANK3 is a leading autism candidate gene, with mutations occurring in between 1-2 % of individuals with ASD. SHANK3 encodes a protein that is essential for proper functioning of the synapse, the junction between neurons. There is currently no medication to treat ASD
Goal: The project aims for development and implementation of a phenotypic approach using cortical neurons derived from human stem cells(hESCs) deficient in the Shank3 gene. Its final goal is the identification of novel chemical matter for the treatment of ASD
Development stage: HCS-HTS pilot study
