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Copy Number Variation in neurodevelopmental disorders:

David A Collier Professor of Neuropsychiatric Genetics Institute of Psychiatry david.collier@kcl.ac.uk. Copy Number Variation in neurodevelopmental disorders: from genome research to translational medicine. Neurodevelopmental disorders. Impairment of growth and development of the brain or CNS

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Copy Number Variation in neurodevelopmental disorders:

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  1. David A CollierProfessor of Neuropsychiatric GeneticsInstitute of Psychiatrydavid.collier@kcl.ac.uk Copy Number Variation in neurodevelopmental disorders: from genome research to translational medicine

  2. 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.

  3. Identification of pathogenic copy number variants (CNVs)

  4. Genome research is highly translationalBrain and Behaviour Genetic REsource Genome sequencing - UK10K Sequencing 3,000 patients with developmental disorders www.uk10K.org • 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)

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