Research Projects

The brain processes information that shapes our behavior and influences our thoughts and actions. Dysfunction of synaptic circuits during early development, such as in infants and children, leads to neurodevelopmental disorders, mainly Intellectual Disability (ID) and Autism Spectrum Disorder (ASD). De novo heterozygous mutations in the gene encoding for synaptic RAS-GTPase, SYNGAP1, are shown to cause ID and ASD. Studies from a mouse model, Syngap1+/- (Het), suggest that the mutation unleashes dendritic spine synapse maturation during early development and excitation-inhibition imbalance, causing life-long cognitive and emotional deficits and impaired adaptive functions. The number of ID cases resulting from SYNGAP1 heterozygous mutations has increased in the past decade. A new therapeutic option for treating SYNGAP1-related ID/ASD, which could be extended to other mutations causing ID/ASD, is proposed.