David A Collier Professor of Neuropsychiatric Genetics Institute of Psychiatry Copy Number Variation in neurodevelopmental disorders: from genome research to translational medicine

Neurodevelopmental disorders Impairment of growth and development of the brain or CNS Disorder of brain function that affects emotion, learning ability and memory and that unfolds as the individual grows Autism, intellectual disability, speech and language delay, ADHD, epilepsy, schizophrenia High unmet need – aetiology poorly understood, limited treatment options.

Identification of pathogenic copy number variants (CNVs)

Genome research is highly translational Brain and Behaviour Genetic REsource Clinical genetics/aetiology Phenotype-genotype analysis identification of new pathogenic CNVs Improvements in genetic counselling for known CNVs Experimental medicine Identification of novel drug targets Stratification of patients for intervention/clinical trials Development of cellular models for disease (iPSC) Genome sequencing - UK10K Sequencing 3,000 patients with developmental disorders