overview of mrc centre for neuropsychiatric genetics and genomics
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Overview of MRC Centre for Neuropsychiatric Genetics and Genomics. Michael J Owen. Mission. Use genetics and genomics to inform our understanding of the aetiology, pathogenesis and classification of the major psychiatric and neurodegenerative disorders. - PowerPoint PPT PresentationTRANSCRIPT
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Overview of MRC Centre for Neuropsychiatric Genetics and Genomics
Michael J Owen
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MissionUse genetics and genomics to inform our understanding of the aetiology, pathogenesis and classification of the major psychiatric and neurodegenerative disorders.
Train a cadre of clinical and non-clinical scientists capable of delivering this discovery and translational agenda.
Genetics
Clinical Studies
Pre-clinicalStudies
PopulationStudies
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Major disease fociThe major causes of psychiatric
morbidity and mortality including:– Neurodegenerative disorders
• Alzheimer disease• Parkinson disease• Huntington disease
– Schizophrenia– Mood disorder
• Bipolar Disorder• Unipolar Disorder
– Childhood psychiatric and developmental disorders
• ADHD• Depression• Dyslexia
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Cross cutting themes
• Psychosis and Major Affective Disorders.– Nick Craddock
• Neurodegenerative Disorders.– Julie Williams
• Developmental Disorders.– Anita Thapar
• Genetic and Cellular models.– Lawrence Wilkinson
• Biostatistics and Bioinformatics.– Peter Holmans
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2010 Cardiff University establishes 3 cross school research institutes.
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NMHRI MissionHarness the internationally recognised strengths in neuroscience research in Cardiff to deliver new insights into the major neurodegenerative and psychiatric disorders.
Major focus on developing novel translational interfaces between the work of MRC Centre for Neuropsychiatric Genetics and Genomics and the wider Cardiff Neurosciences community.
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The Gateway Building
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MRC centre support for biostatistics and bioinformatics
• Databasing and biostatistics posts.• SL in bioinformatics/ computational biology.• 3 joint PhD students with COMSC.• Regular forum
– to encourage joint research.
• Existing collaboration on MSc.
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What we do• Genomic data
– Genome-wide association studies– Genome-wide copy number variation– Whole exome and genome sequencing
• Other data– Transcriptomics– Proteomics– Annotated complexes and pathways– Brain imaging– Cognition– Clinical including routinely collected data
• Very complex genetics• We seek insights into:
– Association of single and multiple DNA events with other datasets– Nature of interactions– Disease pathways and other biological relationships
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BD: modulation of transcription and cellular activity, including via hormonal action
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12
Copy Number Variants
deletion
duplication
Comparative Genomic Hybridisation
SNP Chips
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Do SZ CNVs converge on synaptic pathways?
• Causal role of most individual CNVs not established
• Annotation gap• Biases esp gene size not
excluded in most studies• One study using formal test
found nominal evidence for enrichment in “neuronal-activity” and “learning gene” sets in ISC vs controls (Raychaudhuri et al 2010).
• Study of de novos
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Challenges
• Extracting biological meaning from multiple genetic signals
• Algorithms and platforms for estimating disease risk• Prediction of functional consequences of sequence
variation• Understanding relationships between complex
genomic data and complex phenotype data (clinical, cognitive, imaging etc)
• Linking research and routinely collected clinical data