Genomic technology is now enabling the identification of many novel causes of neurodevelopmental disorder. This provides a new starting point for understanding the relationships between specific genetic mutation, neuronal function, brain development, cognition and mental health.
I apply systematic clinical and cognitive neuroscience methods to characterise patients with intellectual disability in whom a genetic cause has been identified. I hope this will have clinical benefit (clarifying pathogenicity of novel variants, prognostication) and generate hypotheses about new mechanisms of disease.
