Grant: Travel Awards - Institute Community Support

Neurodevelopmental disorders (NDDs) affect ~1.5% of Canadians and are often associated with abnormal social and communicative behaviours. Smith-Magenis syndrome (SMS), caused by a mutation in the RAI1 gene, combines autistic-like traits with behavioural and speech impairments. However, the lack of suitable animal models has limited our understanding of how these symptoms develop. The common marmoset, a small highly social primate with human-like communication and brain organization, offers a promising model to study these mechanisms. This project aims to characterize the first transgenic marmoset model of SMS and investigate vocalization as a potential biomarker for NDDs. Using gene editing technology, marmoset cells carrying the RAI1 mutation were generated and used to produce transgenic animals. Study of the mutant stem cells' early results show cellular changes similar to those seen in humans with SMS, including reduced RAI1 protein levels, slower cell growth, and increased DNA damage. These cells also developed into neurons faster than normal ones, reflecting patterns observed in patients. At the behavioural level, I am tracking the development of vocal communication in both typical and SMS marmosets from infancy to adulthood. Using advanced computational tools, I observe how their calls evolve and form distinct patterns over time. Future work will use brain imaging to study how marmosets process others' calls and how communication delays appear in SMS animals. By combining cellular, behavioural, and brain imaging approaches, this work will establish the marmoset as a powerful model for studying SMS, and shed light on the brain mechanisms behind communication impairments. These findings will pave the way toward refining interventions, care, and potential treatments for patients with NDDs.