Investigating Disorganised Regulons in 16p11.2 Syndrome

By Carter Perry

EMS300 Student Conference 2026

Slide 1: Investigating Disorganised Regulons in 16p11.2 Syndrome. A full description follows.

Summary

The slide deck presents an investigation into disorganised regulons associated with 16p11.2 Syndrome, which affects approximately 1 in 100 individuals with autism. It outlines the syndrome's phenotypes, the aims of the research, and methodologies employed, including Expression Variation Analysis and Gene Ontology analysis. Key findings suggest that specific regulons are linked to neurodevelopmental functions and conditions such as autism spectrum disorder and intellectual disability. Future research directions are proposed, emphasising the need for further exploration of hub genes and their roles in neurodevelopment.