Molecular Genetic Studies of Schizophrenia

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

Abstract

Schizophrenia (SZ) is a severe psychiatric disorder. Treatments are often only partially effective, or not effective at all, and people with SZ can be profoundly disabled for most of their adult life. Developing better treatments for SZ is one of the most important challenges facing modern medicine but our ability to meet and overcome this challenge is hindered by a lack of detailed knowledge about the range of biological processes that cause the disorder. It is also obstructed by a lack of objective tests with which to make a diagnostis or classify patients into subgroups who might benefit from different treatments. We aim to use modern genetic tools to address these gaps.
We know that genes are important in determining how likely people are to develop SZ, and that many genes are involved. In recent years, we have identified specific genes and mutations that contribute to risk, and in doing so, we are gaining insights into some general disease mechanisms. Most of the risk for SZ is not yet linked to specific DNA variants, but the findings we have made are pointing to abnormalities in proteins that regulate how neurones in the brain communicate with each other and are pivotal to memory and learning. The findings also show that the genes, and therefore the mechanisms, influencing SZ frequently overlap with those that influence other psychiatric and brain developmental disorders including bipolar disorder, autism, and intellectual disability.
There is clear evidence that the genetic contribution to SZ includes DNA variants (risk alleles) that are fairly common but each only slightly increases risk; many of these have now been identified. It also includes alleles that are rare but confer very large increases in risk of disorder; fewer of these have been identified. Our approach in the current proposal is to apply the new DNA sequencing technology to our very large samples aiming to identify rare risk alleles of large effect. Rare alleles can be particularly informative for suggesting both disease causing and protective mechanisms. Moreover, the effects of rare mutations with big impacts on disease can be effectively modelled in cells or in animals; thus our study will provide much needed resources for the mechanistic studies that have transformed understanding of other disorders, for example cancer.
Our laboratory focus is on rare mutations, but we will also integrate the findings with the results of the genetic studies of common variation we are involved in to gain a more comprehensive picture of the causes of SZ. We will use the data to identify broad biological processes that tend to be enriched for the risk alleles, and then isolate from those more specific pathogenic sub-processes that contain the genetic signals for the disorder. This sort of approach has already been successful with the moderate number of risk alleles we have previously identified. We believe that in doing so, we can make major contributions to understanding the fundamental biological mechanisms behind SZ.
We will also use the findings to investigate if particular groups of patients within SZ and across SZ and related disorders can be identified in which members are enriched for risk alleles in particular biological processes. Success here will begin to allow the first biologically valid classifications in psychiatry, thus addressing one of the other major knowledge gaps and lead to improved clinical and interventional studies in psychiatry.
We believe completion of these aims will deliver insights into the fundamental biology of SZ, will deliver novel targets for treatments, influence clinical diagnostics, and will provide the resources and reagents (in the form of causal and protective mutations, pathogenic pathways, and information about valid patient groupings) that will set the fundamental and clinical translational agenda in psychiatry for the next decade.

Technical Summary

We aim to build on recent advances in schizophrenia genomics to implicate genes, individual mutations and specific biological processes, and identify novel patient strata. Our first goal is to implicate rare exonic mutations and specific genes by whole exome sequencing of patient-proband trios, cases and controls. The funding requested will bring our total UK sample to 16000 cases and 16000 controls plus 2109 trios. These data will be used to identify de novo mutations, conduct case control analyses and undertake combined analyses of mutations of all classes [de novo and standing, single nucleotide variants (SNVs) and CNVs]. Replication studies and formal mega-analyses will be conducted though our large network of collaborators. This will enable us to identify specific pathogenic genes, and both pathogenic and protective mutations. Second, using a variety of gene-set enrichment approaches applied to both GWAS and sequencing data, we will identify and refine specific sets of functionally related genes that are enriched for genetic risk alleles. This will bring to bear novel genomic annotations and other -omics data (transcriptomics, methylomics and proteomics). Finally, we will seek to identify phenotypically defined strata that can be distinguished genetically. This work will be based on an increasingly refined genetic signal at the individual mutation, genic, gene-set and genomic levels, use dimensional as well as categorical approaches and include unbiased approaches based upon canonical correlation analysis as well as hypothesis driven approaches. Our work will deliver fundamental insights into the biology of schizophrenia, provide the resources and reagents (in the form of actionable causal and protective mutations, implicated pathogenic pathways and valid patient strata) that will drive mechanistic and translational research, deliver novel therapeutic targets, and inform clinical practice.

Planned Impact

The main aims of our programme are to use genomics to a) implicate specific biological processes, genes, and mutations to serve as a basis for future mechanistic studies, and b) to conduct genomic analyses across schizophrenia and related neurodevelopmental and psychotic disorders in order to identify novel strata for clinical and interventional studies. The personal and economic burden of these disorders is the largest of all categories of disorder and the development of more effective therapies is a pressing requirement for global health and wellbeing. There will thus be many beneficiaries of our work including academic and industry researchers, sufferers, their families, and the health service and the wider population upon which much of the economic burden falls.
This work will be of direct benefit and interest to a broad group of industry researchers as well as to academic researchers outside the immediate professional circle of those carrying out psychiatric genetics research. In particular the identification of specific risk genes and mutations (short term benefits) will provide benefit to a) clinical neuroscientists seeking to understand the impact of genetic risk on brain structure and function by stratifying subjects on the basis of genotype and b) basic neuroscientists seeking to develop novel cellular and animal models of psychiatric disorders with high construct validity based upon high penetrance mutations. These are required to understand disease mechanisms and identify novel treatment targets. The development of new more effective treatments (medium to longer term benefits) will have positive impacts on health, quality of life and the economy; both directly through profits to pharma and indirectly through improved care, reduced care burden and increased economic productivity. We also intend, through other funding, to establish and bank cell lines from fibroblasts or keratinocytes and to derive iPSC from selected cases carrying high penetrance mutations. These will be made available through the CoSyn project (short term benefits) to a network of other academic and industrial collaborators (Lundeck, Hoffmann-La-Roche and Pfizer) as well as to bona fide researchers and industry investigators.

Our genetic findings have already spearheaded contemporary debate about psychiatric classification and diagnosis. Our future findings on the genetic overlaps and distinctions between current diagnostic groups and the identification of novel strata will continue to inform this debate as psychiatry moves inexorably from the current descriptive system to one that is more in tune with underlying pathogenesis (on-going benefits). This will be of relevance to the development of novel diagnostic systems (DSM and ICD) and to clinical researchers and pharma, informing the design of clinical trials and the provision of precision medicine. Our findings will also be of relevance to population and clinical scientists by allowing hypothesis-driven studies of causal processes in the general population as well as in clinical samples and longitudinal and quasi-experimental designs. This will inform future intervention policies (longer term benefits). Finally our work will be relevant (short and longer term benefit) to the health service by contributing key data that can be implemented for early diagnosis and identification of those at risk of subsequent psychiatric and neurodevelopmental disorders. The resulting reductions in morbidity and mortality will benefit health and the economy.

The staff working on the project will receive training in genomics, statistics, bioinformatics, neuroscience, psychology and psychiatry. Their skills are applicable not only in academia but also more widely including in industry, the NHS, education and policy making.

Publications

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Autism Spectrum Disorders Working Group Of The Psychiatric Genomics Consortium (2017) Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia. in Molecular autism

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Bigdeli TB (2016) Genome-wide association study reveals greater polygenic loading for schizophrenia in cases with a family history of illness. in American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics

 
Description "UK DRI IPSC platform to model Alzheimer's disease risk (IPMAR) "
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Description Comorbidity and synapse biology in clinically overlapping psychiatric disorders (COSYN)
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Description Early-onset depression: Characterising development and identifying risks
Amount £763,680 (GBP)
Funding ID MR/R004609/1 
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Sector Public
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Start 11/2017 
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Description Genetics collaboration with Prof Bart De Strooper UK DRI programme
Amount £50,000 (GBP)
Organisation UK Dementia Research Institute 
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Start 04/2021 
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Description Genetics collaboration with Prof Bart De Strooper UK DRI programme
Amount £50,000 (GBP)
Organisation UK Dementia Research Institute 
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Description Identify new potential cellular targets (pathways, molecules, genes) for therapeutic intervention in schizophrenia
Amount £1,021,691 (GBP)
Organisation Takeda Pharmaceutical Company 
Sector Private
Country Japan
Start 09/2018 
End 09/2022
 
Description Identifying genetic biomarkers of survival for bowel cancer to aid patient management
Amount £90,000 (GBP)
Organisation Tenovus Cancer Care 
Sector Charity/Non Profit
Country United Kingdom
Start 09/2019 
End 09/2022
 
Description Large scale linkage of genetic and health informatics data in schizophrenia to investigate the impact of copy number variants on physical health
Amount £50,000 (GBP)
Funding ID MQDS16/36 
Organisation MQ Mental Health Research 
Sector Charity/Non Profit
Country United Kingdom
Start 03/2018 
End 09/2020
 
Description Leveraging human genetics to identify target populations for dementia therapeutics (Eisai/DRI), project grant
Amount £200,000 (GBP)
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Sector Public
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Start 03/2020 
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Description National Centre for Mental Health
Amount £2,000,000 (GBP)
Organisation Welsh Assembly 
Sector Public
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Start 03/2018 
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Description Pilot study to develop an instrument to capture broad-ranging neurodevelopmental problems in children with a genetic diagnosis of intellectual disability
Amount £48,502 (GBP)
Organisation Baily Thomas Charitable Fund 
Sector Charity/Non Profit
Country United Kingdom
Start 11/2019 
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Description Pilot study to develop an instrument to capture broad-ranging neurodevelopmental problems in children with a genetic diagnosis of intellectual disability
Amount £48,502 (GBP)
Organisation Baily Thomas Charitable Fund 
Sector Charity/Non Profit
Country United Kingdom
Start 11/2019 
End 10/2020
 
Description Polygenic risk scores for neurodegeneration and Alzheimer's pathophysiology
Amount £951 (GBP)
Organisation UK Dementia Research Institute 
Sector Charity/Non Profit
Country United Kingdom
Start 07/2020 
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Description Profiling post-translational modifications of histone proteins as a determinant of Parkinson's susceptibility
Amount £232,404 (GBP)
Funding ID G-1502 
Organisation Parkinson's UK 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2016 
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Description Stratification of bipolar disorder: Harnessing clinical heterogeneity and genetics shared with other disorders
Amount £310,234 (GBP)
Funding ID Judith Allardyce 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2018 
End 12/2021
 
Description Stratification of bipolar disorder: Harnessing clinical heterogeneity and genetics shared with other disorders
Amount £310,234 (GBP)
Funding ID Judith Allardyce 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 01/2018 
End 12/2021
 
Description Stratification of bipolar disorder: Harnessing clinical heterogeneity and genetics shared with other disorders
Amount £310,234 (GBP)
Funding ID 209176 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 06/2018 
End 06/2022
 
Description TRanslating Individual Alzheimer GEnetic risk into disease phenotypes [TRIAGE]
Amount € 420,000 (EUR)
Organisation JPND Research 
Sector Academic/University
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Start 04/2020 
End 04/2023
 
Description The development and implementation of polygenic risk algorithms for stratifying individuals for future cognitive decline due to Alzheimer's disease in non-symptomatic and early cognitive impaired subjects
Amount £288,555 (GBP)
Funding ID 104210 
Organisation Innovate UK 
Sector Public
Country United Kingdom
Start 03/2018 
End 02/2020
 
Description The phenotypic expression of neuropsychiatric copy number variants
Amount £193,209 (GBP)
Funding ID Kim Kendall 
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start 02/2017 
End 01/2020
 
Description To establish a scalable set of assay platforms against which the phenotype consequences of manipulating the identified exclusive targets can be screened and effects the drug compounds assessed to develop therapeutics for schizophrenia
Amount £2,960,749 (GBP)
Organisation Takeda Pharmaceutical Company 
Sector Private
Country Japan
Start 09/2018 
End 09/2022
 
Description Validating prognostic biomarkers for colorectal cancer and determining their clinical utility
Amount £155,801 (GBP)
Organisation Cancer Research Wales 
Sector Charity/Non Profit
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Start 11/2018 
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Description Wellcome Trust Clinical Research Training Fellowship
Amount £193,209 (GBP)
Funding ID 201171/Z/16/Z 
Organisation Wellcome Trust 
Sector Charity/Non Profit
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Start 02/2017 
End 01/2020
 
Title Alzhemer's Disease Polygenic Risk Profiling 
Description This model used data from the powerful dataset comprising 17 008 cases and 37 154 controls obtained from the International Genomics of Alzheimer's Project (IGAP). Alzheimer's disease (AD) Polygenic risk scores were generated for 3177 cases and 7277 controls (GERAD data) and tested whether the alleles identified to associate with disease in IGAP sample are significantly enriched in the cases relative to the controls in the GERAD sample. The disease prediction accuracy was investigated in a sample of 3049 cases and 1554 controls (for whom APOE genotype data was available) by means of sensitivity, specificity, area under the receiver operating characteristic curve (AUC) and positive and negative predictive values. The best prediction accuracy AUC = 78.2% (95% confidence interval 77-80%) was achieved by a logistic regression model with APOE, the polygenic score, sex and age as predictors. 
Type Of Material Computer model/algorithm 
Year Produced 2016 
Provided To Others? Yes  
Impact This approach is used to create SNP arrays for AD prediction (for research only so far). 
 
Title Schizophrenia GWAS meta-analysis results 
Description Full genome results of our recent Nature Genetics paper CLOZUK schizophrenia GWAS meta-analysis 
Type Of Material Database/Collection of data 
Year Produced 2018 
Provided To Others? Yes  
Impact has only been active since publication 1 week ago 
URL http://walters.psycm.cf.ac.uk
 
Description BRACE 
Organisation University of Bristol
Country United Kingdom 
Sector Academic/University 
PI Contribution advice and training on genomic data analysis
Collaborator Contribution Investigating the genetic overlap between AD and other diseases or traits using polygenic risk scores in Avon Longitudinal Study of Parents and Children (ALSPAC)
Impact 1. Application of newly developed methodology (MR-Base), which hallows to do rapid high-throughput analysis of potentially interesting traits and environmental exposures. 2. Test for shared genetic susceptibility between AD and early life lipid levels, glycaemic, anthropometric, behavioral and cognitive traits in ALSPAC children
Start Year 2016
 
Description Collaboration with Eisai AiM Institute 
Organisation Eisai Ltd
Department Eisai Inc
Country United States 
Sector Private 
PI Contribution Consultancy on Polygenic risk score for clinical trials
Collaborator Contribution We are in the process of negotiations
Impact potentially this collaboration will pay for a time of a postdoctoral researcher
Start Year 2018
 
Description Collaboration with European Bioinformatics institute 
Organisation EMBL European Bioinformatics Institute (EMBL - EBI)
Country United Kingdom 
Sector Academic/University 
PI Contribution We plan to provide a software for polygenic risk score calculation and prosess the GWAS summary statistics for all current GWASes available in EBI GWAS catalogue
Collaborator Contribution provide data access to the GWAS catalogue
Impact This collaboration will provide the GWAS processed data to the research community for quick and efficient calculation of polygenic risk score for any disorder (stored in the EBI GWAS catalogue)
Start Year 2019
 
Description DPUK 
Organisation Medical Research Council (MRC)
Country United Kingdom 
Sector Public 
PI Contribution Steering Group member, DPUK work package lead.
Collaborator Contribution Creating Dementia Platform UK Data Portal
Impact In the process of creating on-line database with dementia cohorts, available in the UK and pipelines for data analyses. Multidisceplinary: genetics, bioinfirmatics, IT.
Start Year 2014
 
Description DPUK-2 (2020 - 2023) 
Organisation University of Oxford
Country United Kingdom 
Sector Academic/University 
PI Contribution Calculation of pathway specific PRS, relevant to the Neuroinflammation work package.
Collaborator Contribution Access to the DPUK cohorts
Impact data access to DPUK cohorts
Start Year 2020
 
Description EISAI 
Organisation Eisai Ltd
Department Eisai Europe Ltd
Country United Kingdom 
Sector Private 
PI Contribution we provide expertise and data analysis of pathways and gene networks related to neurodegeneration
Collaborator Contribution The partner provide expertise the the biological definition of neurodegenerative gene networks
Impact NA
Start Year 2019
 
Description GR@CE 
Organisation Catalan Health Institute (ICS)
Country Spain 
Sector Public 
PI Contribution we analyse the genome-wide data
Collaborator Contribution the collaborators provided the data to us
Impact it is a multidisciplinary collaboration, involve clinicians, biologists and bioinformaticians
Start Year 2020
 
Description GWAIS 
Organisation University of Liege
Country Belgium 
Sector Academic/University 
PI Contribution We bring our expertise in AI and ML
Collaborator Contribution Collaborators bring their expertise in genetic interaction analyses.
Impact It is a multidisciplinary collaboration involving mathematicians, software developers and bioinformaticians
Start Year 2021
 
Description Harvard University 
Organisation Harvard University
Department Harvard Medical School
Country United States 
Sector Academic/University 
PI Contribution generation of polygenic risk scores
Collaborator Contribution provision of tissue samples and genotyped data
Impact none yet
Start Year 2019
 
Description Innovate UK 
Organisation University College London
Country United Kingdom 
Sector Academic/University 
PI Contribution Consultancy
Collaborator Contribution Design of Alzhemer's disease chip
Impact In the process of designing of Alzhemer's disease SNP array. Multidisceplinary: medical genetics, bioinformatics, statistics
Start Year 2015
 
Description Leuven University 
Organisation University of Leuven
Country Belgium 
Sector Academic/University 
PI Contribution generation of polygenic risk scores
Collaborator Contribution sharing genotyped data and PRS
Impact none yet
Start Year 2018
 
Description MRC fellowship 
Organisation University of Bristol
Country United Kingdom 
Sector Academic/University 
PI Contribution advice and training on genomic data analysis
Collaborator Contribution A researcher, Dr. Emma Anderson, who is a highly productive junior researcher
Impact 1. To improve causal inference in mendelian randomization studies of dementia 2. To improve understanding of the genetic risk for dementia and trajectories of cognitive capabilities in aging 3. To identify modifiable risk factors that are related to dementia and cognitive decline
Start Year 2016
 
Description Psychiatric Genetics Consortium 
Organisation Psychiatric Genomics Consortium (PGC)
Country Global 
Sector Learned Society 
PI Contribution I am a PI in the PGC and lead the PGC Cognition in Schizophrenia sub-group as well as lead the treatment-resistant schizophrenia analytic group
Collaborator Contribution This is an international collaboration of hundreds of investigators. Within the cognition group we have been joined by 8 other groups and 12 investigators. In the treatment-resistant schizophrenia group there are another 14 investigators
Impact Biological insights from 108 schizophrenia-associated genetic loci Schizophrenia Working Group of the Psychiatric Genomics Consortium Nature 511 (7510), 421-427
Start Year 2015
 
Description STRATA 
Organisation Universidade de São Paulo
Department Institute of Psychiatry
Country Brazil 
Sector Academic/University 
PI Contribution work stream lead for multisite MRC stratified medicine study
Collaborator Contribution they have led on project
Impact grant started Oct 2014
Start Year 2013
 
Description Stanford University 
Organisation Stanford University
Country United States 
Sector Academic/University 
PI Contribution generation of polygenic risk scores
Collaborator Contribution sharing genotyped data and PRS
Impact none yet
Start Year 2019
 
Description Syracuse University 
Organisation Syracuse University
Country United States 
Sector Academic/University 
PI Contribution still under negotiation
Collaborator Contribution data analysis consultancy
Impact none yet
Start Year 2019
 
Description Takeda 
Organisation Takeda Pharmaceutical Company
Country Japan 
Sector Private 
PI Contribution This collaboration aims to identify new drug targets from genomic data generated by our research groups.
Collaborator Contribution Funding
Impact none as yet
Start Year 2019
 
Description UC Irvine 
Organisation University of California, Irvine
Country United States 
Sector Academic/University 
PI Contribution generation of polygenic risk scores
Collaborator Contribution sharing genotyped data and PRS
Impact none yet
Start Year 2019
 
Title Effective 
Description We have developed a novel approach to account for multiple testing in genome-wide association studies as published in (Moskvina and Schmidt, 2008). The software is C++ code, which can be compiled for any computational platform (Windows, Unix, Linux). 
Type Of Technology Software 
Year Produced 2008 
Open Source License? Yes  
Impact The software was requested from the authors more than 10 times since the paper was published. We have made it now publicly available. 
URL http://github.com/DRI-Cardiff/Keffective
 
Title POLARIS 
Description We developed a novel approach to genetic set-based analysis and polygenic risk scoring, which accounts for linkage disequilibrium between SNPs and informs the analysis with previously reported effect sizes of a SNP's association to disease. We call this method POLARIS: POlygenic Linkage disequilibrium-Adjusted RIsk Score. 
Type Of Technology Software 
Year Produced 2017 
Open Source License? Yes  
Impact NA 
URL https://github.com/BakerEA/POLARIS
 
Description 27/04/17 - 2 day symposium, Cardiff 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Other audiences
Results and Impact TWO-DAY SYMPOSIUM ON `NEUROPLASTICITY AND SYNAPTIC FUNCTION IN NEUROPSYCHIATRIC DISORDERS'
Year(s) Of Engagement Activity 2017
 
Description 02/06/17 - Neuroscience in Bordeaux Association 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact Neuroscience in Bordeaux Association talk - Genomics and the Nature of Schizophrenia.
Year(s) Of Engagement Activity 2017
 
Description 14/06/17 - MRC Symposium - The Developing Brain in Health and Disease 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other audiences
Results and Impact MRC Symposium - The Developing Brain in Health and Disease - talk "Schizophrenia and neurodevelopmental continuum"
Year(s) Of Engagement Activity 2017
 
Description 14th World Congress of Biological Psychiatry 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact 14th World Congress of Biological Psychiatry talk - "The PGC Schizophrenia GWAS: Phase 3", Vancouver, Canada
Year(s) Of Engagement Activity 2019
 
Description 15/09/17 - European Conference on Schizophrenia Research 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact European Conference on Schizophrenia Research - "Genomics and the Nature of Schizophrenia"
Year(s) Of Engagement Activity 2017
 
Description 31/10/17 - Oxford University talk, Dept. of Psychiatry 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other audiences
Results and Impact Oxford University talk, Dept. of Psychiatry, "The Nature of Schizophrenia"
Year(s) Of Engagement Activity 2017
 
Description A formal working group, expert panel or dialogue - DPUK Annual Conference 2018: The power of cohorts 23 April 2018 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Attended one-day conference on using DPUK platform.
Year(s) Of Engagement Activity 2018
 
Description ARUK Oxford Drug Discovery Institute 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Invited presenter at the ARUK Oxford Drug Discovery Institute (ODDI) Collaborators meeting
Year(s) Of Engagement Activity 2020
 
Description ARUK Roundtable 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact I have been invited and participated in a Roundtable discussion organized by Alzheimer's Research UK: "Where now for Alzheimer's disease research? Learning from recent clinical trials failures and planning for the future", 19 January, 2017
Year(s) Of Engagement Activity 2017
 
Description An invited interview at the Alzheimer's Research UK (ARUK) 2019 the Video Journal of Dementia 
Form Of Engagement Activity A magazine, newsletter or online publication
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Media (as a channel to the public)
Results and Impact An interview for Video Journal of Dementia
Year(s) Of Engagement Activity 2019
URL http://www.vjdementia.com
 
Description An invited interview on issues facing researchers in Brexit for the Cross Party Group on Medical Research for Alzheimer's Society, UK 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact Have provided an opinion on issues facing researchers in Brexit for the Cross Party Group in the Welsh Assembly looking at Medical Research
Year(s) Of Engagement Activity 2018
 
Description BBC 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 I have given an interview for BBC Wales, broadcasted 20 April 2017
Year(s) Of Engagement Activity 2017
 
Description BNPA Teaching Weekend 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other audiences
Results and Impact BNPA Teaching Weekend - The Essentials of Neuropsychiatry at the Mathematical Institute, University of Oxford,
Year(s) Of Engagement Activity 2018
 
Description Brains for Dementia Research 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact A public engagement event for brain donors, their carriers and the researches who will access the data.
Year(s) Of Engagement Activity 2022
 
Description Comment on the Polygenic Hazard scores for AD study by Tan et al (2019), Brain 142; 460-470 for Alzforum 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Public/other audiences
Results and Impact I have commented on a study which was covered on Alzforum about polygenic hazard scores for AD, and shared my opinion on their availability to the public.
Year(s) Of Engagement Activity 2019
URL https://www.alzforum.org/news/research-news/multi-gene-score-predicts-cognitive-decline-independentl...
 
Description Common Disease Meeting in Oxford 
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 scientific meeting to convene three diverse communities to envision the next phase of human genetics: moving systematically and rapidly from genetic variation to the mechanistic basis of disease and health
Year(s) Of Engagement Activity 2018
 
Description ECNP plenary speaker 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact ECNP plenary speaker - "Applications and interpretations of genomics in schizophrenia", Copenhagen
Year(s) Of Engagement Activity 2019
 
Description Eisai Ltd webinar 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Industry/Business
Results and Impact Invited presenter at Eisai Ltd webinar
Year(s) Of Engagement Activity 2020
 
Description Interview for UKDRI news and events 
Form Of Engagement Activity Engagement focused website, blog or social media channel
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Media (as a channel to the public)
Results and Impact Spotlight on Prof Valentina Escott-Price
Year(s) Of Engagement Activity 2020
URL https://ukdri.ac.uk/news-and-events/spotlight-on-prof-valentina-escott-price
 
Description Invited member of Polygenic Risk Scoring Expert Panel 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Invited member of Polygenic Risk Scoring Expert Panel for Illumina company, Batimore, USA
Year(s) Of Engagement Activity 2019
 
Description Invited seminar at Icahn School of Medicine at Mount Sinai 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Invited seminar at Icahn School of Medicine at Mount Sinai, NY, USA
Year(s) Of Engagement Activity 2019
 
Description Invited speaker at Alzheimer's Research UK conference 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Invited speaker at Alzheimer's Research UK conference, Harrogate UK
Year(s) Of Engagement Activity 2019
 
Description Invited speaker to FBRI Alzheimer's Disease Workshop 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Invited speaker to FBRI Alzheimer's Disease Workshop, Boston, USA
Year(s) Of Engagement Activity 2019
 
Description Keynote invited speaker, Genetics and epigenetics of mental disorders international conference 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Keynote invited speaker, Genetics and epigenetics of mental disorders international conference, St Petersburg 2019.
Year(s) Of Engagement Activity 2019
 
Description Keynote speaker at The University of Reading SIAM-IMA student chapter conference 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Undergraduate students
Results and Impact Keynote speaker at The University of Reading SIAM-IMA student chapter conference, Reading, UK.
Year(s) Of Engagement Activity 2019
 
Description MQ Mental Health Science Meeting 
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 "Psychiatric genetics: implications for prevention and early intervention." talk given at conference
Year(s) Of Engagement Activity 2018
 
Description MRC 10 year Showcase 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Study participants or study members
Results and Impact An academic afternoon sharing our latest findings and results of the research undertaken over the last 10 years of the centre. Followed by an evening panel event with Mike, James and Anita chaired by the VC and joined by Robin Buckle of MRC.
Year(s) Of Engagement Activity 2019
 
Description MRC Brain disorders summer school 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Talk titled 'Diagnosis, dimensions and big data.' 83% of delegates rated the summer school as 'very good', with 100% saying they would reccommend it to others.
Year(s) Of Engagement Activity 2016
URL http://www.cardiff.ac.uk/mrc-centre-neuropsychiatric-genetics-genomics/study/summer-school
 
Description MRC Festival 2017 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Public/other audiences
Results and Impact Talk and panel discussion with Jonny Benjamin and Neil Laybourn about psychosis and schizophrenia
Year(s) Of Engagement Activity 2017
URL https://www.cardiff.ac.uk/news/view/804231-mrc-festival-voices-of-hope-and-progress
 
Description MRC 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 MRC senior staff retreat, including talks, discussions and staff integration
Year(s) Of Engagement Activity 2018
 
Description Media Interviews about Schizophrenia Genetics paper 
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 Multiple on-line and hard copy press reports of our paper (Pardinas et al, Nature Genetics, 2018). I conducted a radio interview and several web-based interviews for broadcasters, media firms
Year(s) Of Engagement Activity 2018
 
Description Mental Health Research Showcase 2016 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Local
Primary Audience Professional Practitioners
Results and Impact A talk on first episode psychosis and research within this area
Year(s) Of Engagement Activity 2016
 
Description Neuroscience and Mental Health Research Showcase 
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 • Two 10-minute presentations about our academic research (aimed at a lay audience). These should be given by leading academics around the agreed theme.

• An interactive audience Q&A session with the presenters and our external guest panellist, who we would like ideally to come from MQ. The Q&A will be chaired by the VC.

• Following the event there will be a small private dinner hosted by the VC for senior alumni and key prospects of the University where they will be able to continue their conversation with the expert academics and guest panellist in a more informal and intimate setting.
Year(s) Of Engagement Activity 2018
 
Description Poster at AAIC Conference July 2017 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Emily Baker, PhD Student (Supervisor - Prof Valentina Escott-Price) Poster at AAIC Conference - July 2017
Year(s) Of Engagement Activity 2017
 
Description Poster at ASHG Conference - October 2017 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Emily Baker, PhD Student (Supervisor - Prof Valentina Escott-Price) Poster at ASHG Conference - October 2017
Year(s) Of Engagement Activity 2017
 
Description Presentation to the general public on the DRI program at the DRI launch in Cardiff 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact I have presented on my DRI program "Bioinformatics and Functional genomics" to patients, their families, journalists and other invited guests from the general public at the DRI launch in Cardiff, October 2018.
Year(s) Of Engagement Activity 2018
 
Description Royal Philosophical Society of Glasgow 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Royal Philosophical Society of Glasgow talk - "Genes and mental illness: what are their properties and how might discovery enhance future care"
Year(s) Of Engagement Activity 2019
 
Description SIRS conference 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact Genomics and Psychiatric Diagnosis talk given at 6th Biennial Schizophrenia International Research Society Conference
Year(s) Of Engagement Activity 2018
 
Description St Petersburg conference 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact " Genetics and pharmacogenetics of mental illnesses" conference - talk "Genomics in Schizophrenia: Application and Interpretation" - St Petersburg, Russia
Year(s) Of Engagement Activity 2019
 
Description Talk at BAP meeting 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Postgraduate students
Results and Impact Overview of genetics utility and potential in treatment-resistant schizophrenia
Year(s) Of Engagement Activity 2017
 
Description The Times 
Form Of Engagement Activity A magazine, newsletter or online publication
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact I have given an interview to "The Times" newspaper published 22 March, 2017
Year(s) Of Engagement Activity 2017
 
Description University of Bristol CAMH seminar 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Other audiences
Results and Impact University of Bristol's Centre for Academic Mental Health (CAMH), These seminars aim to cover a wide range of topics related to mental health and are aimed at a broad audience consisting of staff and students from across the School.
Year(s) Of Engagement Activity 2018
 
Description University of Exeter Medical School 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other audiences
Results and Impact University of Exeter Medical School talk "Psychosis Genomics: Discovery and Exploitation"
Year(s) Of Engagement Activity 2018
 
Description VII International Forum of Schizophrenia 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact VII International Forum of Schizophrenia - talk "Genetics of schizophrenia and its relationship to treatment"
Year(s) Of Engagement Activity 2018
 
Description iPSYCH/PGC Pathways to Drugs meeting 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact This is the second PGC Pharma industry meeting "Pathways to Drugs", organized by the Psychiatric Genomics Consortium (PGC), iPSYCH and Lundbeck.

Themes;
Psychiatric Genomic Consortium: A Review
Focus on iPSYCH
Clinical Trials and Utility of Polygenic Risk Scores in Experimental Medicine
From Loci to Function: Omics, Models and Circuits
Examples of Genetics for Drug Discovery
Chemoinformatics and Statistical Genetics
Year(s) Of Engagement Activity 2018
 
Description the UK Pharmacogenetics and Stratified Medicine Network 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Invited presenter at the UK Pharmacogenetics and Stratified Medicine Network Workshop
Year(s) Of Engagement Activity 2021