Molecular Genetics of Schizophrenia

Lead Research Organisation: Cardiff University
Department Name: School of Medicine

Abstract

Schizophrenia is a severe disorder affecting approximately 1% of the population. Sufferers experience ?psychotic? symptoms, in particular delusions (false beliefs) and hallucinations (false perceptions) usually in the form of hearing voices. They also tend to show disturbed emotions, impairments of thinking and reasoning and bizarre behaviour. Signs can be present from childhood, but usually the disorder is diagnosed in the late teens and early 20?s. This age of onset, combined with the facts that many patients respond poorly or not at all to current treatments, and for those that do respond, relapse is usually frequent, means that the illness typically impacts on the vast majority of an individual?s adult life. This makes schizophrenia a major burden on the patient, their family and wider society. It has been clear for a century that schizophrenia runs in families, and this is now known to be largely due to genes rather than the family environment. Schizophrenia is clearly a brain disease but, despite much research, specific abnormalities that cause the disorder have not been identified. Such knowledge is likely to be required for the development of truly effective treatments. It is our belief that the best hope of identifying the molecular and cellular abnormalities that underlie schizophrenia is to identify specific genes that are involved. This has proven difficult because schizophrenia does not occur as a result of a single genetic mutation, but reflects a large number of different ?risk genes?. It is really the combination of genes inherited at birth, along with as yet unknown environmental factors, that determine someone?s risk. Modern genetic methods are, for the first time, allowing the great majority of variation in a person?s DNA to be identified in a single experiment and will soon allow the whole DNA sequence to be obtained from individuals at realistic costs. Since people with schizophrenia are relatively unlikely to have children, it is likely that one class of genetic risk factor that will be important are new mutations that arise relatively frequently in the population. We have recently obtained evidence that this is the case, and are now proposing to use new technology to find many more of these by obtaining the sequence of all the genes in 700 patients and their parents. Identifying these mutations and studying the function of the genes they affect will help us understand how schizophrenia arises and to identify molecular targets for new treatments.

Technical Summary

Schizophrenia (SZ) is a severe psychiatric disorder with a lifetime risk of approximately 1% and around 80% heritability. Recent genomic studies support expectations from population genetics that susceptibility is likely to reflect a large number of risk alleles occupying a spectrum of frequencies and effect sizes. Thus, genome-wide association studies (GWAS) support the existence of many common risk alleles, and although each individual allele confers small effects (odds ratios 1.2), en masse these contribute a significant role to population risk. At the other end of the spectrum, an important role for rare alleles is supported by the demonstration that rare genomic copy number variants (CNVs) contribute to disease risk, and that at least some of these rare alleles confer relatively large effects on risk (OR~10). Given the marked reduction in fecundity associated with schizophrenia, rare alleles of large effect must be maintained in the population by de novo mutation. Our recent work on CNVs in SZ, as well as work on point mutations in SZ and intellectual disability, highlights the value of seeking these de novo events as a highly efficient means of identifying pathogenic mutations. Our recent CNV work also shows that identification of specific disrupted genes (eg NRXN1) and of enrichment of mutations in genes coding for functionally related proteins can provide important pointers to disease pathways.
Initially we will use whole-exome sequencing to detect de novo mutations in SZ in 700 well-characterised parent-proband trios. This will build on current pilot work with the Wellcome Trust Sanger Institute (WTSI) and involve collaboration with, and substantial leveraged funding from, the Broad Institute and Mount Sinai School of Medicine. After a synthesis of those data with those from emerging sequencing programmes and GWAS, we will use targeted sequencing in exceptionally large case-control samples to confirm the pathogenic status of individual mutations and genes, and to explore pleiotropic effects in phenotypes for which the genetic risk overlaps with schizophrenia. As in our CNV work, we will combine computational biology with increasingly refined and experimentally derived systems annotations to identify biological systems of pathogenic relevance. Following our work on CNVs, an initial major focus will be to explore systematically components of the synaptic machinery in collaboration with the G2C group at WTSI, but the whole-exome scale of our study will allow us to extend systems-wide analyses into the remaining exome to identify further novel loci and pathogenic systems.

Publications

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Abou Jamra R (2010) A systematic association mapping on chromosome 6q in bipolar affective disorder--evidence for the melanin-concentrating-hormone-receptor-2 gene as a risk factor for bipolar affective disorder. in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

 
Description DSM5 psychosis workgroup
Geographic Reach North America 
Policy Influence Type Participation in advisory committee
 
Description DSMV - Membership of Psychotic disorders workgroup
Geographic Reach Multiple continents/international 
Policy Influence Type Membership of a guidance committee
 
Description Presentation: 'Identification of the primary aetiological factors for schizophrenia and (non-allied) disorders', The Royal College of Psychiatrists Celtic Divisions Meeting, The Millennium Centre, Cardiff, 8th October 2010.
Geographic Reach National 
Policy Influence Type Influenced training of practitioners or researchers
 
Description Schizophrenia commission
Geographic Reach National 
Policy Influence Type Participation in advisory committee
 
Description Behavioural and neurophysiological effects of schizophrenia risk genes
Amount £977,456 (GBP)
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom of Great Britain & Northern Ireland (UK)
Start  
 
Description CRESTAR - Pharmacogenomic biomarkers as clinical decision making tools for clozapine treatment of schizophrenia
Amount £543,836 (GBP)
Organisation European Commission 
Sector Public
Country European Union (EU)
Start  
 
Description Characterising the function of the schizophrenia susceptibility gene ZNF804A
Amount £25,948 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom of Great Britain & Northern Ireland (UK)
Start  
 
Description EU-GEI - European network of national schizophrenia networks studying gene-environment interactions/Commission of the European Communities
Amount £1,426,339 (GBP)
Organisation European Commission 
Sector Public
Country European Union (EU)
Start  
 
Description Excitatory-inhibitory balance in adolescents at high genetic risk of mental disorder: A study of cortical gamma oscillations and GABA concentrations in 22q11.2 delection syndrome
Amount £289,372 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom of Great Britain & Northern Ireland (UK)
Start  
 
Description Genetic dissection of abnormal oligodendrocyte and myelin fundtion in schizophrenia, NIMH Component Grant of a Silvio O Conte Centre for the Neuroscience of Mental Disorders/National Institutes of Health
Amount £962,510 (GBP)
Organisation National Institutes of Health (NIH) 
Sector Public
Country United States of America
Start  
 
Description International consortium on brain and behaviour in 22q11.2 detetion syndrome
Amount £144,368 (GBP)
Funding ID 1R01MH101724 
Organisation National Institutes of Health (NIH) 
Department National Institute of Mental Health (NIMH)
Sector Public
Country United States of America
Start  
 
Description Investigating genetic, environmental, and cognitive mechanisms underlying the development of psychosis in early childhood
Amount £1,328,163 (GBP)
Funding ID MR/M006727/1 
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom of Great Britain & Northern Ireland (UK)
Start 04/2015 
End 03/2019
 
Description Ketamine and cognition: The influence of a new susceptibility gene of schizophrenia.
Amount £39,613 (GBP)
Organisation Autism Speaks 
Sector Charity/Non Profit
Country United States of America
Start  
 
Description MRC Fellowhship (Genetic susceptibility to deficit in contextual processing across the schizophrenia/bipolar disorder diagnostic divide)
Amount £270,740 (GBP)
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom of Great Britain & Northern Ireland (UK)
Start 10/2007 
End 09/2010
 
Description Population genetic study (CONTE)
Amount £463,480 (GBP)
Organisation National Institutes of Health (NIH) 
Sector Public
Country United States of America
Start 07/2007 
End 05/2012
 
Description Project 3: Population genetic studies
Amount £463,480 (GBP)
Organisation National Institutes of Health (NIH) 
Sector Public
Country United States of America
Start  
 
Description STRATA - Schizophrenia: Treatment resistance and therapeutic advances
Amount £611,520 (GBP)
Funding ID PCSBABC 
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom of Great Britain & Northern Ireland (UK)
Start 10/2014 
End 09/2019
 
Description ZNF804A: Connecting a confirmed schizophrenia risk gene to neuronal, network and behavioural function
Amount £1,089,369 (GBP)
Organisation Medical Research Council (MRC) 
Sector Academic/University
Country United Kingdom of Great Britain & Northern Ireland (UK)
Start  
 
Title 15k Schizophrenia samples and GWAS 
Description 6k Schizophrenia samples and GWAS A further 9k Schizophrenia samples and GWAS have been collated in 2013-14 
Type Of Material Biological samples 
Provided To Others? No  
Impact Papers in progress 
 
Title DNA samples 
Description 9000 samples from people with schizophrenia 
Type Of Material Biological samples 
Provided To Others? No  
Impact Papers & data generation 
 
Title Genotypes on thousands of cases with schizophrenia 
Description genetic data 
Type Of Material Biological samples 
Year Produced 2012 
Provided To Others? Yes  
Impact Collaborative papers 
 
Title Schizophrenia Exome Sequencing Data 
Description Exome Sequencing data from 2400 subjects have been deposited in public repositories 
Type Of Material Biological samples 
Year Produced 2014 
Provided To Others? Yes  
Impact Multiple Papers 
 
Title Schizophrenia database and DNA collection 
Description Database and DNA collection (updated to 800 people with schizophrenia) 
Type Of Material Biological samples 
Year Produced 2012 
Provided To Others? Yes  
Impact papers 
 
Title genomewide association snips on 8000 people 
Description data consisting of genomewide association snips on 8000 people deposited in dbgap exome sequenced data on 600 parent proband schiz trios and 500 schiz cases deposited in european genome archive a dbgap 
Type Of Material Database/Collection of data 
Year Produced 2013 
Provided To Others? Yes  
Impact synaptic pathways identified as important in schizophriniaand 128 new common varient genetic associations to schiz 
 
Description Bilateral collaborations on specific analyses 
Organisation Imperial College London
Country United Kingdom of Great Britain & Northern Ireland (UK) 
Sector Academic/University 
PI Contribution joint research
Collaborator Contribution joint research
Impact unknown
Start Year 2012
 
Description Bilateral collaborations on specific analyses 
Organisation King's College London
Department Institute of Psychiatry, Psychology & Neuroscience
Country United Kingdom of Great Britain & Northern Ireland (UK) 
Sector Academic/University 
PI Contribution joint research
Collaborator Contribution joint research
Impact unknown
Start Year 2012
 
Description Bilateral collaborations on specific analyses 
Organisation University of Bonn
Country Germany, Federal Republic of 
Sector Academic/University 
PI Contribution joint research
Collaborator Contribution joint research
Impact unknown
Start Year 2012
 
Description Bilateral collaborations on specific analyses 
Organisation University of Iowa
Department Department of Psychiatry
Country United States of America 
Sector Academic/University 
PI Contribution joint research
Collaborator Contribution joint research
Impact unknown
Start Year 2012
 
Description CRESTAR GRANT 
Organisation King's College London
Country United Kingdom of Great Britain & Northern Ireland (UK) 
Sector Academic/University 
PI Contribution design, data generation, analysis, management, joint papers, samples
Collaborator Contribution funding, samples, management
Impact currently in analysis phase
Start Year 2011
 
Description Collaboration with the University of Wuerzburg 
Organisation University of Wurzburg
Country Germany, Federal Republic of 
Sector Academic/University 
PI Contribution We are using my expertise in CNV and sequencing analysis and the German team are contributing their 2000 patients/controls DNA samples
Collaborator Contribution The team in Wuerzburg has collected one of the largest and best-characterised datasets of schizophrenia patients. They are happy to collaborate with us, due to my long-term involvement with their research. We will probably genotype and sequence their samples.
Impact CNV analsyis of de novos: this will make part of a large paper under preparation.
Start Year 2010
 
Description EU GEI 
Organisation Maastricht University (UM)
Country Netherlands, Kingdom of the 
Sector Academic/University 
PI Contribution design, data generation, analysis, management, joint papers
Collaborator Contribution funding, samples, management
Impact major grant funding
Start Year 2010
 
Description Genome-wide association study of schizophrenia      
Organisation Stanford University
Country United States of America 
Sector Academic/University 
PI Contribution Statistical analysis and consultancy    
Collaborator Contribution Large scale genome-wide association analysis of schizophrenia         
Impact Papers published (incl. one in Nature) 
Start Year 2007
 
Description Neuropsychological studies of Schizophrenia susceptibility genes 
Organisation Trinity College Dublin
Country Ireland, Republic of 
Sector Academic/University 
PI Contribution member
Collaborator Contribution member-
Impact -
Start Year 2009
 
Description Neuropsychological studies of Schizophrenia susceptibility genes 
Organisation University of Munich Hospital
Country Germany, Federal Republic of 
Sector Academic/University 
PI Contribution member
Collaborator Contribution member-
Impact -
Start Year 2009
 
Description Rare CNV Analysis 
Organisation Karolinska Institute
Country Sweden, Kingdom of 
Sector Academic/University 
PI Contribution project management, data, analysis
Collaborator Contribution analysis
Impact Papers in progress
Start Year 2014
 
Description Rare CNV Analysis 
Organisation University of North Carolina at Chapel Hill
Country United States of America 
Sector Academic/University 
PI Contribution project management, data, analysis
Collaborator Contribution analysis
Impact Papers in progress
Start Year 2014
 
Description UK10K 
Organisation The Wellcome Trust Sanger Institute
Country United Kingdom of Great Britain & Northern Ireland (UK) 
Sector Charity/Non Profit 
PI Contribution samples, leadership & management
Collaborator Contribution sequencing & analysis
Impact currently in analysis phase
Start Year 2009
 
Description Whole Genome Sequencing of Schizophrenia 
Organisation Broad Institute
Country United States of America 
Sector Charity/Non Profit 
PI Contribution collaborative work on many research projects
Collaborator Contribution collaborative work on multiple research projectscollaborative work------
Impact multiple publications
Start Year 2009
 
Description Whole Genome Sequencing of Schizophrenia 
Organisation Cardiff University
Country United Kingdom of Great Britain & Northern Ireland (UK) 
Sector Academic/University 
PI Contribution collaborative work on many research projects
Collaborator Contribution collaborative work on multiple research projectscollaborative work------
Impact multiple publications
Start Year 2009
 
Description Whole Genome Sequencing of Schizophrenia 
Organisation Mount Sinai Hospital (USA)
Department Conte Centre
Country United States of America 
Sector Academic/University 
PI Contribution collaborative work on many research projects
Collaborator Contribution collaborative work on multiple research projectscollaborative work------
Impact multiple publications
Start Year 2009
 
Description Whole Genome Sequencing of Schizophrenia 
Organisation Osaka University
Country Japan 
Sector Academic/University 
PI Contribution collaborative work on many research projects
Collaborator Contribution collaborative work on multiple research projectscollaborative work------
Impact multiple publications
Start Year 2009
 
Description Whole Genome Sequencing of Schizophrenia 
Organisation Stanford University
Country United States of America 
Sector Academic/University 
PI Contribution collaborative work on many research projects
Collaborator Contribution collaborative work on multiple research projectscollaborative work------
Impact multiple publications
Start Year 2009
 
Description strata - stratifying response in schizropginia - treatment resistance and pherapeutic advances 
Organisation King's College London
Department Institute of Psychiatry, Psychology & Neuroscience
Country United Kingdom of Great Britain & Northern Ireland (UK) 
Sector Academic/University 
PI Contribution co investigator leading genetics
Collaborator Contribution brain imaginng, accuisition of samples, co-ordination
Impact Grant funded - starting 2014
Start Year 2013
 
Description "Genetics of schizophrenia - where to go next?" 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Gave talk at European Congress of Psychiatry entitled "Genetics of schizophrenia - where to go next?"
Year(s) Of Engagement Activity 2015
 
Description 25th Neuropharmacology Conference 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact Attended the 25th Neuropharmacology Conference in Chicago
Year(s) Of Engagement Activity 2015
 
Description BAP summer meeting 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact Gave a talk and attended British Association for Psychopharmacology summer meeting
Year(s) Of Engagement Activity 2015
 
Description BBC Radio Wales 
Form Of Engagement Activity A broadcast e.g. TV/radio/film/podcast (other than news/press)
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Public/other audiences
Results and Impact Further coverage: Interview with Prof Mick O'Donovan on schizophrenia findings (Andrew Pocklington)
Year(s) Of Engagement Activity 2015
 
Description BBC, Mail Online, Guardian 
Form Of Engagement Activity A press release, press conference or response to a media enquiry/interview
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact Prof Mike Owen commenting on research at KCL
Year(s) Of Engagement Activity 2015
URL http://www.bbc.co.uk/news/health-33464480
 
Description Cambridge Neuroscience seminar 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Delivered a talk entitled Genes, Brains and Psychiatry at Cambridge University

Unknown
Year(s) Of Engagement Activity 2014
 
Description Crestar GA meeting 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact Met with Crestar EU grant General Assembly in Budapest
Year(s) Of Engagement Activity 2015
 
Description Crestar SC meeting 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact Attended Crestar grant steering committee meeting in Mallorca
Year(s) Of Engagement Activity 2015
 
Description DPMCN staff retreat 2016 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Other audiences
Results and Impact Staff retreat including talks and workshops
Year(s) Of Engagement Activity 2016
 
Description ECNP science meeting 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact Met with colleagues at European College of Neuropsychopharmacology science meeting in Nice
Year(s) Of Engagement Activity 2015
 
Description ESHG meeting 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact talk entitled "Genetics of Schizophrenia" given at ESHG conference in Barcelona 21/05/16
Year(s) Of Engagement Activity 2016
URL https://www.eshg.org/programme2016.0.html
 
Description EU-GEI Consortium Meeting 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Delivered a talk entitled 'Discovery Genetics' at the EU-GEI Consortium Meeting, Barcelona

unknown
Year(s) Of Engagement Activity 2013
 
Description Ernst Strungmann Forum 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Delivered a talk at the Diseases of the Nervous System: What Is to Be Done? Ernst Strungmann Forum

Unknown
Year(s) Of Engagement Activity 2014
URL http://www.esforum.de/forums/esf17_diseases_of_the_nervous_system.html
 
Description GW4 Epigenetics Consortium 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Gave a presentation at GW4 Epigenetics Consortium - workshop and early careeer researcher event, Bristol

Unknown
Year(s) Of Engagement Activity 2014
 
Description Glasgow Lecture 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other audiences
Results and Impact Talk entitled "Genetics of Schizophrenia" given as the Glasgow Lecture, Glasgow University, 02/06/16
Year(s) Of Engagement Activity 2016
 
Description Guardian, Daily Mail, BT.com 
Form Of Engagement Activity A press release, press conference or response to a media enquiry/interview
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact Prof Mike Owen comments on new schizophrenia research from Broad Institute and Harvard
Year(s) Of Engagement Activity 2016
URL https://www.theguardian.com/science/2016/jan/27/schizophrenia-breakthrough-as-genetic-study-reveals-...
 
Description HHP training day 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact Talk at Health for health professionals event "Schizophrenia - recent advances"
Year(s) Of Engagement Activity 2015
 
Description Herrenhausen Symposium on Psychiatric Disorders 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact Gave talk at the Herrenhausen Symposium on Psychiatric Disorders in Hannover 12/05/16
Year(s) Of Engagement Activity 2016
 
Description IPMCN retreat 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Other audiences
Results and Impact Annual department retreat to discuss past, present and future plans for the MRC Centre
Year(s) Of Engagement Activity 2015
 
Description Interviews for Lieber Prize 
Form Of Engagement Activity A press release, press conference or response to a media enquiry/interview
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact Interviews for Lieber Prize on ITV, newspapers

unknown
Year(s) Of Engagement Activity 2012
 
Description Llandough CME lecture 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Other audiences
Results and Impact Talk entitled "Exploiting developments in schizophrenia genomics" given at Cardiff University Centre for Medical Education, Llandough Hospital
Year(s) Of Engagement Activity 2016
 
Description MRC Epigenetics workshop 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other audiences
Results and Impact Attended MRC Epigenetics workshop in London
Year(s) Of Engagement Activity 2015
 
Description MRC NMHB board meetings 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other audiences
Results and Impact Contributed to MRC Neuroscience and Mental Health Board meeting
Year(s) Of Engagement Activity 2015
 
Description MRC neurodevelopmental network 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other audiences
Results and Impact Attended MRC neurodevelopmental network
Year(s) Of Engagement Activity 2015
 
Description MRC talk 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other audiences
Results and Impact Gave talk and met with colleagues at the MRC Centre for Developmental Neurobiology in London
Year(s) Of Engagement Activity 2015
 
Description Mental health outcomes in UK Biobank 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Attended workshop on Mental health outcomes in UK Biobank
Year(s) Of Engagement Activity 2015
 
Description Mental health outcomes in UK Biobank 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other audiences
Results and Impact Attended Mental Health Outcomes in UK Biobank: One-Day Workshop
Year(s) Of Engagement Activity 2015
 
Description Molecular Psychiatry Meeting 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Delivered a talk entitled 'Exome Sequencing Studies of SZ implicates pathways affecting synaptic plasticity' at the Molecular Psychiatry Meeting, San Francisco

Unknown
Year(s) Of Engagement Activity 2013
 
Description NCCR conference 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact Gave talk entitled "Genes, synapses and schizophrenia" at the 2nd Conference on the Neurobiology of Mental Health (National Centre of Competence in Research).
Year(s) Of Engagement Activity 2016
URL http://www.nccr-synapsy.ch/conference
 
Description Neuroscience Symposium 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Delivered a talk entitled 'common variants in psychiatry' at the Neuroscience Symposium, Roche Innovation Centre, New York

Unknown
Year(s) Of Engagement Activity 2014
 
Description New challenges in the Biomedical Sciences symposium 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact Attended the 'New challenges in the Biomedical Sciences' symposium
Year(s) Of Engagement Activity 2015
 
Description Oxford Uni talk 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Undergraduate students
Results and Impact Gave a talk at Oxford Uni entitled "Genomics and the nature of schizophrenia"
Year(s) Of Engagement Activity 2015
 
Description Psychosis National Symposium, Open University 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Delivered a talk entitled 'The molecular basis of psychosis (schizophrenia and bipolar disorder) and associated risk genes' at the Psychosis National Symposium, Open University

unknown
Year(s) Of Engagement Activity 2013
 
Description Queen's anniversary prize announcement 
Form Of Engagement Activity A press release, press conference or response to a media enquiry/interview
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Media (as a channel to the public)
Results and Impact Attended reception for Queen's anniversary prize announcement
Year(s) Of Engagement Activity 2015
 
Description RCPsych International Congress 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Delivered a talk entitled 'Recent genetic advances in schizophrenia and psychosis' at the RCPsych International Congress, Barbican Centre, London

Unknown
Year(s) Of Engagement Activity 2014
 
Description RCPsych in Wales talk 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other audiences
Results and Impact Talk given at the RCPsych in Wales & The Welsh Psychiatric Society Joint Winter meeting entitled "The Nature of Schizophrenia"
Year(s) Of Engagement Activity 2015
 
Description RCPsych international congress 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact Met with fellow researchers and peers at RCPsych International Congress in Birmingham
Year(s) Of Engagement Activity 2015
 
Description RCPsych international congress 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact Attended RCPsych international congress
Year(s) Of Engagement Activity 2015
 
Description Rehabilitation conference talk 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Other audiences
Results and Impact Talk given at Rehabilitation Conference at the Royal College of Psychiatrists 17/11/16
Year(s) Of Engagement Activity 2016
 
Description Roche symposium 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact Gave a presentaiton on Advances in Schizophrenia at the Roche Symposium in Basel
Year(s) Of Engagement Activity 2015
 
Description Schizophrenia and related Psychoses 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Schools
Results and Impact Presentation to Cardiff High six formers


promoting importance of mental health awareness and anti-stigma message particularly with respect to schizophrenia
Year(s) Of Engagement Activity 2009
 
Description Schizophrenia: new routes to better care (janssen) 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Delivered a talk entitled Bringing innovation to clinical practice: the future of schizophrenia care

Unknown
Year(s) Of Engagement Activity 2014
 
Description Senior staff retreat 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Other audiences
Results and Impact Attended and gave talk at IPMCN Senior staff retreat, Gregynog.
Year(s) Of Engagement Activity 2015
 
Description Southampton Neuroscience conference 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other audiences
Results and Impact Talk given entitled "The Nature of Schizophrenia" at the Southampton Neuroscience conference
Year(s) Of Engagement Activity 2015
 
Description Student clinical neuroscience conference 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Undergraduate students
Results and Impact Talk entitled "Genes, Brains and Psychiatry" given at the Student clinical neuroscience conference
Year(s) Of Engagement Activity 2015
 
Description Talk at St George's hospital, Stafford 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Gave a talk at St George's hospital, Stafford
Year(s) Of Engagement Activity 2015
 
Description The Genomics of Common Diseases 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact Met with collaborators and fellow researchers at The Genomics of Common Diseases workshop, Wellocme genome campus
Year(s) Of Engagement Activity 2015
 
Description UK/Korea neuroscience symposium 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact Gave a talk entitiled "What genetics tells us about the biology of schizophrenia" at the UK/Korea neuroscience symposium
Year(s) Of Engagement Activity 2015
 
Description Van Praag lecture 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact Gave the Van Praag Lecture at University of Utrecht
Year(s) Of Engagement Activity 2016
 
Description Wellcome Trust conference 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other audiences
Results and Impact Participant in Genomics of Brain Disorders conference held by the Wellcome Trust
Year(s) Of Engagement Activity 2016
 
Description Wellcome Trust researcher meeting 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other audiences
Results and Impact Attended the Wellcome Trust researcher meeting
Year(s) Of Engagement Activity 2015
 
Description What triggers schizophrenia? 
Form Of Engagement Activity A press release, press conference or response to a media enquiry/interview
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact Genetic mutations in people with schizophrenia cluster in specific proteins offering a 'new window' into the disorder, according to a team of scientists. In the largest genetic study of its kind, published in the journal Nature, an international team led by Cardiff University examined the occurrence of new genetic mutations in people with schizophrenia. Professor Mike Owen and Professor Mick O'Donovan from Cardiff University's MRC Centre for Neuropsychiatric Genetics and Genomics interviewed

International media coverage
Year(s) Of Engagement Activity 2011,2014
URL http://www.cardiff.ac.uk/news/articles/what-triggers-schizophrenia-12323.html
 
Description World Congress of Psychiatric Genetics 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact Attended the World Congress on Psychiatric Genetics
Year(s) Of Engagement Activity 2015
 
Description World Congress of Psychiatric Genetics 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Delivered a talk entitled 'the effect of Psychosis risk genes across the phenotypic spectrum' at the World Congress of Psychiatric Genetics, Copenhagen, Denmark.

unknown
Year(s) Of Engagement Activity 2014
 
Description World Congress of Psychiatric Genetics 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact met with collaborators and fellow researchers at World Congress of Psychiatric genetics in Toronto
Year(s) Of Engagement Activity 2015
URL http://2015.ispg.net/
 
Description World Congress, Hamburg 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Type Of Presentation Paper Presentation
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact "A Shared Polygenic Contribution between ADHD in
Childhood and Schizophrenia"


unknown
Year(s) Of Engagement Activity 2009,2012
 
Description World Congress, Hamburg 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Type Of Presentation Paper Presentation
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact "Genome-wide Significant Associations in Schizophrenia to
ITIH3/4, CACNA1C and SDCCAG8, and Extensive Replication of
Associations Reported by the Schizophrenia PGC"


unknown
Year(s) Of Engagement Activity 2012
 
Description XXIst World Congress on Psychiatric Genetics 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other academic audiences (collaborators, peers etc.)
Results and Impact Delivered a talk entitled 'Common genetic variation in psychiatric disorders' at the XXIst World Congress on Psychiatric Genetics, Boston

Unknown
Year(s) Of Engagement Activity 2014
 
Description ground-breaking discovery of over a hundred genetic risk factors linked to schizophrenia 
Form Of Engagement Activity A press release, press conference or response to a media enquiry/interview
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact The discovery of over a hundred genetic risk factors linked to schizophrenia provides vital new clues in understanding what causes the condition and will kick-start the search for new treatments, according to University scientists.

In the biggest molecular genetic study of schizophrenia ever conducted, the Psychiatric Genetics Consortium (PGC), led by Professor Michael O'Donovan from the University's MRC Centre for Neuropsychiatric Genetics and Genomics, combined all available schizophrenia samples into a new, single systematic analysis.

International media coverage
Year(s) Of Engagement Activity 2014
URL http://www.cardiff.ac.uk/news/articles/understanding-schizophrenia-13272.html
 
Description iPsych IAB meeting 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact Attended iPsych IAB meeting in Copenhagen
Year(s) Of Engagement Activity 2015