Drosophilia as Patient Avatars for Local Rare-Disease Patients

This project directly advances understanding of neurodevelopment by functionally characterizing patient-specific genetic variants identified in Manitoban children with unexplained neurodevelopmental disorders. Using Drosophila as an efficient in vivo system, we will test variants in TRMT1, CCNK, and FEM1B. These three genes are newly implicated in brain development, transcriptional regulation, and neuronal maintenance. By establishing whether these variants disrupt gene function, this study will clarify diagnoses for local families and reveal conserved molecular pathways underlying abnormal neural development.