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.
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.
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.
Organisations
- CARDIFF UNIVERSITY (Lead Research Organisation)
- Universidade de São Paulo (Collaboration)
- University College London (Collaboration)
- HARVARD UNIVERSITY (Collaboration)
- Catalan Health Institute (ICS) (Collaboration)
- Takeda Pharmaceutical Company (Collaboration)
- University of Liege (Collaboration)
- Eisai Ltd (Collaboration)
- Syracuse University (Collaboration)
- UNIVERSITY OF CAMBRIDGE (Collaboration)
- UNIVERSITY OF OXFORD (Collaboration)
- EMBL European Bioinformatics Institute (EMBL - EBI) (Collaboration)
- University of California, Irvine (Collaboration)
- UNIVERSITY OF GLASGOW (Collaboration)
- Cardiff University (Collaboration)
- Stanford University (Collaboration)
- University of Lille (Collaboration)
- University of Leuven (Collaboration)
- National Institutes of Health (NIH) (Collaboration)
- Medical Research Council (MRC) (Collaboration)
- Psychiatric Genomics Consortium (PGC) (Collaboration)
- University of Bristol (Collaboration)
Publications
Allardyce J
(2018)
Association Between Schizophrenia-Related Polygenic Liability and the Occurrence and Level of Mood-Incongruent Psychotic Symptoms in Bipolar Disorder.
in JAMA psychiatry
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
Baker E
(2020)
Polygenic Risk Scores in Alzheimer's Disease: Current Applications and Future Directions.
in Frontiers in digital health
Baldacci F
(2020)
Age and sex impact plasma NFL and t-Tau trajectories in individuals with subjective memory complaints: a 3-year follow-up study.
in Alzheimer's research & therapy
Bassett AS
(2017)
Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.
in The American journal of psychiatry
Bellou E
(2022)
Are Alzheimer's and coronary artery diseases genetically related to longevity?
in Frontiers in psychiatry
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
Billingsley KJ
(2019)
Mitochondria function associated genes contribute to Parkinson's Disease risk and later age at onset.
in NPJ Parkinson's disease
Bipolar Disorder And Schizophrenia Working Group Of The Psychiatric Genomics Consortium. Electronic Address: Douglas.ruderfer@vanderbilt.edu
(2018)
Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes.
in Cell
Description | Alzheimer Disease and APOE genotyping |
Geographic Reach | National |
Policy Influence Type | Participation in a guidance/advisory committee |
Description | "UK DRI IPSC platform to model Alzheimer's disease risk (IPMAR) " |
Amount | £1,866,149 (GBP) |
Organisation | UK Dementia Research Institute |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 01/2021 |
End | 07/2023 |
Description | Bioinformatics and Functional Genomics |
Amount | £1,250,000 (GBP) |
Organisation | UK Dementia Research Institute |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 03/2023 |
End | 03/2028 |
Description | Centre for Ageing and Dementia Research (CADR) |
Amount | £386,341 (GBP) |
Organisation | Welsh Assembly |
Sector | Public |
Country | United Kingdom |
Start | 03/2018 |
End | 03/2020 |
Description | Comorbidity and synapse biology in clinically overlapping psychiatric disorders (COSYN) |
Amount | € 224,500 (EUR) |
Organisation | European Commission H2020 |
Sector | Public |
Country | Belgium |
Start | 01/2016 |
End | 12/2020 |
Description | Early-onset depression: Characterising development and identifying risks |
Amount | £763,680 (GBP) |
Funding ID | MR/R004609/1 |
Organisation | Medical Research Council (MRC) |
Sector | Public |
Country | United Kingdom |
Start | 11/2017 |
End | 11/2020 |
Description | Genetics collaboration with Prof Bart De Strooper UK DRI programme |
Amount | £50,000 (GBP) |
Organisation | UK Dementia Research Institute |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 04/2021 |
End | 04/2022 |
Description | Genetics collaboration with Prof Bart De Strooper UK DRI programme |
Amount | £50,000 (GBP) |
Organisation | UK Dementia Research Institute |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 04/2021 |
End | 04/2022 |
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) |
Organisation | Medical Research Council (MRC) |
Sector | Public |
Country | United Kingdom |
Start | 03/2020 |
End | 02/2023 |
Description | National Centre for Mental Health |
Amount | £2,000,000 (GBP) |
Organisation | Welsh Assembly |
Sector | Public |
Country | United Kingdom |
Start | 03/2018 |
End | 03/2020 |
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 | 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 |
End | 11/2021 |
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 |
End | 07/2018 |
Description | Proinflammatory cytokines as Parkinson's biomarkers |
Amount | $184,247 (USD) |
Organisation | Michael J Fox Foundation |
Sector | Charity/Non Profit |
Country | United States |
Start | 06/2023 |
End | 12/2024 |
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 | 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 | TRanslating Individual Alzheimer GEnetic risk into disease phenotypes [TRIAGE] |
Amount | € 420,000 (EUR) |
Organisation | JPND Research |
Sector | Academic/University |
Country | Global |
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 |
Country | United Kingdom |
Start | 11/2018 |
End | 10/2021 |
Description | Wellcome Trust Clinical Research Training Fellowship |
Amount | £193,209 (GBP) |
Funding ID | 201171/Z/16/Z |
Organisation | Wellcome Trust |
Sector | Charity/Non Profit |
Country | United Kingdom |
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 |
Title | a github repository |
Description | This pipeline takes a published mouse gene list for astrocytes, converts to human, and creates a file for grch38 with and without the APOE region. |
Type Of Material | Data analysis technique |
Year Produced | 2024 |
Provided To Others? | No |
Impact | This tool will used for a publication which is currently in preparation. |
URL | https://github.com/seafloor/escott-price-lab-pipelines/tree/main |
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 | Cardiovascular drugs and dementia |
Organisation | University of Glasgow |
Country | United Kingdom |
Sector | Academic/University |
PI Contribution | Advice on statistical data analyses |
Collaborator Contribution | Collaboration with clinicians to assess a variety of medications and validity of the 'dementia' diagnosis |
Impact | Collaboration between clinicians and data analysts |
Start Year | 2024 |
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 - 2025) |
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 | Electronic health records |
Organisation | National Institutes of Health (NIH) |
Country | United States |
Sector | Public |
PI Contribution | Discussion of data analyses and results using Electronic Health records in the UK databases |
Collaborator Contribution | Discussion of data analyses and results using Electronic Health records in international databases, replication |
Impact | Two papers have been submitted. |
Start Year | 2023 |
Description | European Alzheimer's disease databank |
Organisation | University of Lille |
Country | France |
Sector | Academic/University |
PI Contribution | Machine learning based data analysis |
Collaborator Contribution | Provided access to the data and HPC facilities |
Impact | Paper in preparation |
Start Year | 2022 |
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 | GW4 fellowship |
Organisation | Cardiff University |
Department | Brain Research Imaging Centre (CUBRIC) |
Country | United Kingdom |
Sector | Academic/University |
PI Contribution | co-supervisor; advice and training on genomic data analysis |
Collaborator Contribution | A researcher, Judith Harrison |
Impact | To explore disease pathways in Alzheimer's disease using MRI Biomarkers and Polygenic Scores |
Start Year | 2017 |
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 | Open Network for Frontotemporal dementia Inflammation Research |
Organisation | University of Cambridge |
Country | United Kingdom |
Sector | Academic/University |
PI Contribution | Collaboration for establishing a national network and collaborative platform for blood marker discovery in FTD; recruiting participants across the whole UK, in diverse healthcare settings. |
Collaborator Contribution | Discussion of the data collection protocol. |
Impact | It is a collaboration between clinicians, biologists and bioinformaticians |
Start Year | 2024 |
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 | 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 | 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 | 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 | Artificial Intelligence for Precision Dementia Medicine Summit at the Royal Society |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Invited to the round table discussion at the Artificial Intelligence for Precision Dementia Medicine Summit at the Royal Society |
Year(s) Of Engagement Activity | 2022 |
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 | Benchmarking Alzheimer's Disease polygenic risk scores for disease prediction in diverse samples |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | DEMON Network Genetics and Omics group meeting: Benchmarking Alzheimer's Disease polygenic risk scores for disease prediction in diverse samples |
Year(s) Of Engagement Activity | 2023 |
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 | Company Visit (Boston) |
Form Of Engagement Activity | A formal working group, expert panel or dialogue |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Industry/Business |
Results and Impact | ~50 industrial partners attended my talk about blood biomarkers in neurodegeneration |
Year(s) Of Engagement Activity | 2022 |
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 | Enabling dementia research using UK Biobank |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Webinar: 'Enabling dementia research using UK Biobank'. |
Year(s) Of Engagement Activity | 2023 |
Description | Festival of Genomics and Biodata |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Presented at he Festival of Genomics and Biodata |
Year(s) Of Engagement Activity | 2022 |
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 | Keynote talk at UK DRI ECR Informatics symposium |
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 | Keynote talk at UK DRI ECR Informatics symposium: Learning from Machine Learning in genetics of brain disorders |
Year(s) Of Engagement Activity | 2024 |
Description | MND Association local branch public engagement event |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | MND Association visited Cardiff University DRI facilities, had lab tour, overview of MND work, had a Q&A with Cardiff researchers/clinicians. |
Year(s) Of Engagement Activity | 2024 |
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 | 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 | Senior staff retreat, talks and discussions. |
Year(s) Of Engagement Activity | 2023 |
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 | UK Biobank Winter Scientific Conference |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Professional Practitioners |
Results and Impact | Dementia session at the UK Biobank Winter Scientific Conference |
Year(s) Of Engagement Activity | 2022 |
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 | Video presentation on Youtube |
Form Of Engagement Activity | Engagement focused website, blog or social media channel |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Presented a video abstract of a recently published paper |
Year(s) Of Engagement Activity | 2022 |
URL | https://www.youtube.com/channel/UClJJHH2xKQk8uZTC7-mJICg |
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 |