From variants to biology in Neurodevelopmental Psychiatry

Genetic studies have transformed our understanding of neurodevelopmental psychiatric conditions, revealing a complex architecture involving both common and rare genetic variants. Yet identifying genetic risk is only the first step. The greater challenge is understanding how these variants alter biological processes, which cells and developmental stages are affected, and ultimately how these molecular changes contribute to clinical phenotypes.

In this Campfire Session, we will explore the journey from genetic variants to biological mechanisms in neurodevelopmental psychiatry. Using examples from ADHD and other neurodevelopmental disorders, we will discuss what we have learned from large-scale common- and rare-variant studies, including how genetic findings converge on specific genes, pathways, neuronal populations and developmental processes.

We will consider how different types of genetic variation can provide complementary insights into the underlying biology: common variants can reveal polygenic influences across the genome, whereas rare deleterious variants can implicate individual genes and biological mechanisms more directly. We will also discuss the challenges of moving beyond statistical associations towards functional interpretation, including the use of transcriptomics, single-cell data, gene networks and experimental models.