David A Collier Professor of Neuropsychiatric Genetics Institute of Psychiatry...
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David A Collier Professor of Neuropsychiatric Genetics Institute of Psychiatry [email protected] Copy Number Variation in neurodevelopmental disorders: from genome research to translational medicine
Transcript of David A Collier Professor of Neuropsychiatric Genetics Institute of Psychiatry...
David A CollierProfessor of Neuropsychiatric Genetics
Institute of [email protected]
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 translationalBrain 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
www.uk10K.org
