Transcript from genome research to translational medicine

Copy Number Variation in
neurodevelopmental disorders:
from genome research to translational
medicine
David A Collier
Professor of Neuropsychiatric Genetics
Institute of Psychiatry
[email protected]
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
•Genome sequencing - UK10K
Sequencing 3,000 patients with
developmental disorders
www.uk10K.org
 Identification of novel drug
targets
 Stratification of patients for
intervention/clinical trials
 Development of cellular
models for disease (iPSC)