2022 Scientific Innovations Award
Angelique Bordey, Ph.D.
Our proposal aims at identifying a molecular mechanism responsible for autism-like socio-communicative defects in the developmental disorder, tuberous sclerosis complex (TSC). TSC is a genetic disorder with a 30-60% incidence of autism and is characterized by a spectrum of sensory and socio-communicative abnormalities. Despite accounting for 4-14% of all autism cases, there is currently no treatment for TSC-associated autism. We propose to test the transformative hypothesis that an overactive production of ribosomes, the molecular machines inside cells necessary for the making of proteins, contributes to abnormalities of brain circuit and autism-like socio-communicative defects in TSC. We hope to identify novel therapeutic targets (e.g., specific altered genes responsible for overproduction of ribosome RNA) to rescue socio-communicative deficits observed in individuals with autism in TSC.