The Genetic Basis of Neuropsychiatric and Neurodegenerative Disorders

Lead Research Organisation: University of Wales
Department Name: UNLISTED

Abstract

Psychiatric disorders are common in the UK and throughout the world. They not only result in considerable personal suffering but also have major economic and social impact. We know that genes play an important role in influencing the risk that an individual may develop such disorders from studies of families, twins, and people who have been adopted. However at present, we do not know exactly what the genes are out of the many tens of thousands of genes each person carries. Broadly speaking then, a central aim of our Co-operative Group is to use modern genetic methods to locate and identify the specific genes involved in contributing to the development of major psychiatric disorders. By identifying the actual genes, we will then be able to determine the function of the proteins they encode, and, consequently, the nature of the dysfunction that leads to disease. This should lead to a better understanding of the causes, genetic and environmental, of serious mental disorders, and a more secure foundation for better diagnosis and ultimately to the development of more effective treatments. Other aims of our group to begin to use animal models to help us to understand how genetic factors lead to disease and to develop novel methods for treating brain diseases with an initial focus on Huntington?s disease.

The PIs and field workers in all projects regularly give presentations to healthcare workers, NHS managers, service planners and policy makers, teachers, carers and users as part of our dialogue with the public. In addition we produce Newsletters aimed at users/carers, and a number of television and newspaper pieces involving our group aimed at the public have been broadcast and published. The PIs have also given public lectures on various aspects of Psychiatric Genetics. Examples of all these activities are given in our Five Year Progress Report.

In addition, our Co-op will play a major role in the Wales Gene Park, one of the partners in which is Techniquest, Cardiff?s public centre for science discovery. Public and professional education in relation to genetics, including psychiatric genetics, is a major part of the Gene Park?s mission and funding for a non-clinical lecturer in the Public Understanding of Genetics has been obtained.

Technical Summary

The Co-operative Group is built around a series of well established collaborations within the Departments of Psychological Medicine and Medical Genetics, UWCM, together with more recently established links with the Department of Medicine, UWCM and the School of Biosciences, Cardiff University, CU. It contains a wide range of scientific expertise relevant to genetic aspects of psychiatric disorders including phenotype definition, epidemiology, quantitative/statistical genetics, molecular genetics, cell biology, proteomics and transcriptomics, biochemistry, neural transplantation, stem cell biology and the analysis of animal models of neuropsychiatric disorder. These different expertises are brought together in a range of research programmes concentrating on the following specific phenotypes; schizophrenia, Huntington s disease, bipolar affective disorder, Alzheimer s disease, attention deficit hyperactivity disorder (ADHD), depression and dyslexia. Members of the co-op are also undertaking several basic genomics projects the applicability of which will not be restricted to neuropsychiatric disorders. Underpinning our Co-operative is a recognition of the need to assemble a group of researchers who are capable not only of identifying genes for mental illness but also of studying the functional consequences of genetic susceptibility, determining how disease genes interact with environmental risk factors and translating genetic understanding into novel approaches to treatment.

Publications

10 25 50
 
Description Academy Medical Sciences Council Member
Geographic Reach National 
Policy Influence Type Membership of a guideline committee
 
Description Academy Medical Sciences Fellow
Geographic Reach Multiple continents/international 
Policy Influence Type Membership of a guideline committee
 
Description Academy Medical Sciences Wales Ambassador
Geographic Reach National 
Policy Influence Type Membership of a guideline committee
 
Description DSMV - Membership of Psychotic disorders workgroup
Geographic Reach Multiple continents/international 
Policy Influence Type Membership of a guidance committee
 
Description EPAD LCS sample access committe
Geographic Reach Multiple continents/international 
Policy Influence Type Membership of a guideline committee
 
Description Medicines Discovery Institute MDI
Geographic Reach National 
Policy Influence Type Membership of a guideline committee
 
Description NMHRI management
Geographic Reach National 
Policy Influence Type Membership of a guideline committee
 
Description Biomedical Research Centre
Amount £2,995,123 (GBP)
Organisation Health and Care Research Wales 
Sector Public
Country United Kingdom
Start  
 
Description Genetic dissection of abnormal oligodendrocyte and myelin fundtion in schizophrenia, NIMH Component Grant of a Silvio O Conte Centre for the Neuroscience of Mental Disorders/National Institutes of Health
Amount £962,510 (GBP)
Organisation National Institutes of Health (NIH) 
Sector Public
Country United States
Start  
 
Description Genomewide association study of schizophrenia/Standford University
Amount £56,716 (GBP)
Organisation Stanford University 
Sector Academic/University
Country United States
Start  
 
Description Genomic and functional analysis of dysbindin in the genesis of schizophrenia
Amount £369,422 (GBP)
Organisation Prostate Cancer UK 
Sector Charity/Non Profit
Country United Kingdom
Start  
 
Description MRC Centre Grant (Neuropsychiatric Genetics and Genomics)
Amount £2,498,770 (GBP)
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 08/2009 
End 08/2014
 
Description MRC Charity (Molecular genetic studies of schizophrenia)
Amount £2,670 (GBP)
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 01/2007 
End 07/2007
 
Description MRC Research Grant (Molecular Genetics in Schizophrenia)
Amount £2,108,550 (GBP)
Funding ID G0800509 
Organisation Medical Research Council (MRC) 
Sector Public
Country United Kingdom
Start 12/2008 
End 11/2011
 
Description Population genetic study (CONTE)
Amount £463,480 (GBP)
Organisation National Institutes of Health (NIH) 
Sector Public
Country United States
Start 07/2007 
End 05/2012
 
Description VIP Award - Dr A Garfield
Amount £27,326 (GBP)
Organisation Wellcome Trust 
Sector Charity/Non Profit
Country United Kingdom
Start  
 
Title AD Genetics Scotland 
Description Blood samples are collected from participants and sent directly from research sites to European Collection of Authenticated Cell Cultures (ECACC), a Culture Collection of Public Health England. Upon arrival, ECACC process the blood and transform into cell lines- peripheral blood lymphocytes (PBLs) and Lymphoblastoid cell lines (LCLs). Cell lines are frozen and stored at ECACC until they are required by the team at Cardiff. 
Type Of Material Biological samples 
Year Produced 2018 
Provided To Others? No  
Impact Ongoing collection of samples, no publications to date. 
 
Title Analysis of copy number variation using quantitative interspecies 
Description Over recent years small submicroscopic DNA copy number variants (CNVs) have been highlighted as an important source of variation in the human genome, human phenotypic diversity and disease susceptibility. Consequently, there is a pressing need for the development of methods that allow the efficient, accurate and cheap measurement of genomic copy number polymorphisms in clinical cohorts. We have developed a simple competitive PCR based method to determine DNA copy number which uses the entire genome of a single chimpanzee as a competitor thus eliminating the requirement for competitive sequences to be synthesized for each assay. This results in the requirement for only a single reference sample for all assays and dramatically increases the potential for large numbers of loci to be analysed in multiplex. 
Type Of Material Technology assay or reagent 
Year Produced 2008 
Provided To Others? Yes  
Impact We are currently using this approach to validate CNVs and are aiming to utilise the technology to develop diagnostic screens for potentially pathological chromosomal aberrations. 
 
Title DLB Genetics 
Description Blood samples are collected from participants and sent directly from research sites to European Collection of Authenticated Cell Cultures (ECACC), a Culture Collection of Public Health England. Upon arrival, ECACC process the blood and transform into cell lines- peripheral blood lymphocytes (PBLs) and Lymphoblastoid cell lines (LCLs). Cell lines are frozen and stored at ECACC until they are required by the team at Cardiff 
Type Of Material Biological samples 
Year Produced 2018 
Provided To Others? No  
Impact Ongoing collection of samples, no publications to date 
 
Title Plcg2 animal models 
Description To establish a functional pipeline for the study of disease associated genes and polymorphism in microglia and MØ in the context of dementia-related disease in vivo. The initial concentration is on the impact of coding mutations of PLCG2. In parallel, studies were initated on SPI1 and ABI3. Large scale 'omic and functional assay data derived from these studies will be used to bioinformatically identify potential causative abnormalities, by association with patient data 
Type Of Material Model of mechanisms or symptoms - mammalian in vivo 
Year Produced 2018 
Provided To Others? No  
Impact n/a 
 
Description A novel method to screen for whole genome genetic associaion in late onset Alzheimer's disease 
Organisation Alzheimer's Research UK
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution co applicant on grant - G Kirov PI DNA samples were collected from 1,082 individuals with LOAD and 1,239 control subjects. Equimolar amounts of each DNA sample were added to either a case or control pool. The pools were genotyped using Illumina manHap300 and Illumina Sentrix HumanHap240S arrays testing 561,494 SNPs. 114 of our best hit SNPs from the pooling data were identified and then individually genotyped in the case - control sample used to construct the pools. We found evidence for association at 3.4 × 10-6 for our strongest finding, rs727153.rs727153 lies 13 kb from the start of transcription of lecithin retinol acyltransferase (phosphatidylcholine - retinol O-acyltransferase, LRAT). Five of seven tag SNPs chosen to cover LRAT showed significant association with LOAD with a SNP in intron 2 of LRAT, showing greatest evidence of association (rs201825, p-value = 6.1 × 10-7).
Collaborator Contribution co applicant on grant - G Kirov PI DNA samples were collected from 1,082 individuals with LOAD and 1,239 control subjects. Equimolar amounts of each DNA sample were added to either a case or control pool. The pools were genotyped using Illumina manHap300 and Illumina Sentrix HumanHap240S arrays testing 561,494 SNPs. 114 of our best hit SNPs from the pooling data were identified and then individually genotyped in the case - control sample used to construct the pools. We found evidence for association at 3.4 × 10-6 for our strongest finding, rs727153.rs727153 lies 13 kb from the start of transcription of lecithin retinol acyltransferase (phosphatidylcholine - retinol O-acyltransferase, LRAT). Five of seven tag SNPs chosen to cover LRAT showed significant association with LOAD with a SNP in intron 2 of LRAT, showing greatest evidence of association (rs201825, p-value = 6.1 × 10-7).
Impact PMID 18823527
Start Year 2006
 
Description AD Genetics Cohort, China 
Organisation Guangdong Medical College
Department Institute of Neurology
Country China 
Sector Public 
PI Contribution China remains an untapped unprecedented resource of older individuals for genetic studies. We are working with our contacts there to encourage interest in Alzheimer's disease Genetics. We are using our expertise in cohort genetics including GWAS, whole exome sequences and genome sequencing to gather up the most powerful cohort possible for the identification of Alzheimer's changes. So far we have brought PIs from six Chinese Universities on board. We have discussed the issues surrounding governance and compliance for the particular materials needed for the study. We have decided on a functional study plan together and hope to develop this for future funding in order to make use of this readily available resource,
Collaborator Contribution Each of the Chinese Institutions approached have agreed to enter into an agreement with Cardiff. This will allow the production of genetic data from a variety of Alzheimer's and Control genetic samples. These data will be fully analysed and compared to that from other populations. The project current status is awaiting the necessary legal agreements required before information can be shared between Institutions.
Impact This collaboration includes individuals with expertise in compliance, legal, sample collection, cohort genetics, bioinformatics, statistics, data interpretaton. It is not anticipated that additional resources will be available to investigate other dementia types or neurological conditions.
Start Year 2015
 
Description ADES Collaboration 
Organisation Erasmus MC
Country Netherlands 
Sector Hospitals 
PI Contribution A way to make aware our different institutions and funders of that we are working hard to a better organisation of the AD genetic field worldwide and we need strong support for this.
Collaborator Contribution as above
Impact n/a
Start Year 2016
 
Description ADES Collaboration 
Organisation Hospital de Sant Pau
Country Spain 
Sector Hospitals 
PI Contribution A way to make aware our different institutions and funders of that we are working hard to a better organisation of the AD genetic field worldwide and we need strong support for this.
Collaborator Contribution as above
Impact n/a
Start Year 2016
 
Description ADES Collaboration 
Organisation National Institute of Health and Medical Research (INSERM)
Country France 
Sector Academic/University 
PI Contribution A way to make aware our different institutions and funders of that we are working hard to a better organisation of the AD genetic field worldwide and we need strong support for this.
Collaborator Contribution as above
Impact n/a
Start Year 2016
 
Description ADES Collaboration 
Organisation Pasteur Institute, Lille
Country France 
Sector Charity/Non Profit 
PI Contribution A way to make aware our different institutions and funders of that we are working hard to a better organisation of the AD genetic field worldwide and we need strong support for this.
Collaborator Contribution as above
Impact n/a
Start Year 2016
 
Description ADES Collaboration 
Organisation University College London
Country United Kingdom 
Sector Academic/University 
PI Contribution A way to make aware our different institutions and funders of that we are working hard to a better organisation of the AD genetic field worldwide and we need strong support for this.
Collaborator Contribution as above
Impact n/a
Start Year 2016
 
Description ADES Collaboration 
Organisation University of Bonn
Country Germany 
Sector Academic/University 
PI Contribution A way to make aware our different institutions and funders of that we are working hard to a better organisation of the AD genetic field worldwide and we need strong support for this.
Collaborator Contribution as above
Impact n/a
Start Year 2016
 
Description ADES Collaboration 
Organisation University of Pennsylvania
Country United States 
Sector Academic/University 
PI Contribution A way to make aware our different institutions and funders of that we are working hard to a better organisation of the AD genetic field worldwide and we need strong support for this.
Collaborator Contribution as above
Impact n/a
Start Year 2016
 
Description ADES Collaboration 
Organisation VU University Medical Center
Country Netherlands 
Sector Academic/University 
PI Contribution A way to make aware our different institutions and funders of that we are working hard to a better organisation of the AD genetic field worldwide and we need strong support for this.
Collaborator Contribution as above
Impact n/a
Start Year 2016
 
Description Attention deficit hyperactivity disorder in children with learning disability 
Organisation Baily Thomas Charitable Fund
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution Alka Ahuja grant Co applicant on grant currently involved in the interpretation of findings and preparation of manuscripts for publication.
Collaborator Contribution joint research
Impact The following paper has been submitted for publication following this grant: "Rare chromosomal deletions and duplications are associated with attention deficit hyperactivity disorder and overlap with those conferring susceptibility to autism and schizophrenia." Nigel M. Williams, Irina Zaharieva, Andrew Martin, Kate Langley, Kiran Mantripragada, Peter Holmans, Michael O'Donovan, Michael J. Owen, Anita Thapar - submitted to The Lancet
 
Description Collaborative Study for genotype phenotype associations in Alzheimer's 
Organisation GlaxoSmithKline (GSK)
Country Global 
Sector Private 
PI Contribution joint PI on grant awarded before 2006 Follow-up and MRI imaging of AD patients
Collaborator Contribution joint PI
Impact see report on G0033429
 
Description Detecting chromosomal anomalies with attention deficit hyperactivity disorder and learning disability using microarray based comparative genomic hybridisation 
Organisation Action Medical Research
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution co applicant currently involved in decisions regarding the direction of investigation and relevant analyses, data interpretation and the preparation of manuscripts for publication.
Collaborator Contribution co applicant
Impact Output: The following publication has been submitted following this grant: "Rare chromosomal deletions and duplications are associated with attention deficit hyperactivity disorder and overlap with those conferring susceptibility to autism and schizophrenia." Nigel M. Williams, Irina Zaharieva, Andrew Martin, Kate Langley, Kiran Mantripragada, Peter Holmans, Michael O'Donovan, Michael J. Owen, Anita Thapar - submitted to The Lancet
Start Year 2008
 
Description Detecting susceptibility genes for late-onset Alzheimer's disease 
Organisation Medical Research Council (MRC)
Country United Kingdom 
Sector Public 
PI Contribution co applicant Jule Williams Programme grant with KCL
Collaborator Contribution co applicant
Impact see report for G033429
 
Description Feasibility study of psychopathology in children with 22Q11 deletion syndrome 
Organisation Baily Thomas Charitable Fund
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution coapplicant with M van den Bree
Collaborator Contribution coapplicant
Impact see report on G0300943
Start Year 2009
 
Description Genetic dissection of the mood-psychosis spectrum 
Organisation The Wellcome Trust Sanger Institute
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution This programme focuses on using molecular genetic approaches to understanding the relationship between mood and psychotic illness (particularly schizophrenia and bipolar disorder) with a view to improving approaches to diagnosis and treatment. The programme benefits by close association with the Wellcome Trust Case Control Consortium (where the bipolar disorer work was an integral componentand the schizophrenia work an adjunct component).
Collaborator Contribution This programme focuses on using molecular genetic approaches to understanding the relationship between mood and psychotic illness (particularly schizophrenia and bipolar disorder) with a view to improving approaches to diagnosis and treatment. The programme benefits by close association with the Wellcome Trust Case Control Consortium (where the bipolar disorer work was an integral componentand the schizophrenia work an adjunct component).
Impact Outputs include high profile publications for implicating specific genetic loci in bipolar disorder (ANK3, CACNA1C) (Wellcome Trust; Ferreira), schizophrenia (ZNF804A) (O'Donovan) and GABA A receptor genes in schizoaffective disorder Craddock). 1: Wellcome Trust Case Control Consortium. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature. 2007 Jun 7;447(7145):661-78. PubMed PMID: 17554300; PubMed Central PMCID: PMC2719288. 1: Craddock N, Jones L, Jones IR, Kirov G, Green EK, Grozeva D, Moskvina V, Nikolov I, Hamshere ML, Vukcevic D, Caesar S, Gordon-Smith K, Fraser C, Russell E, Norton N, Breen G, St Clair D, Collier DA, Young AH, Ferrier IN, Farmer A, McGuffin P, Holmans PA; Wellcome Trust Case Control Consortium (WTCCC), Donnelly P, Owen MJ, O'Donovan MC. Strong genetic evidence for a selective influence of GABA(A) receptors on a component of the bipolar disorder phenotype. Mol Psychiatry. 2008 Jul 1. [Epub ahead of print] PubMed PMID: 19078961. 2: Ferreira MA, O'Donovan MC, Meng YA, Jones IR, Ruderfer DM, Jones L, Fan J, Kirov G, Perlis RH, Green EK, Smoller JW, Grozeva D, Stone J, Nikolov I, Chambert K, Hamshere ML, Nimgaonkar VL, Moskvina V, Thase ME, Caesar S, Sachs GS, Franklin J, Gordon-Smith K, Ardlie KG, Gabriel SB, Fraser C, Blumenstiel B, Defelice M, Breen G, Gill M, Morris DW, Elkin A, Muir WJ, McGhee KA, Williamson R, MacIntyre DJ, MacLean AW, St CD, Robinson M, Van Beck M, Pereira AC, Kandaswamy R, McQuillin A, Collier DA, Bass NJ, Young AH, Lawrence J, Ferrier IN, Anjorin A, Farmer A, Curtis D, Scolnick EM, McGuffin P, Daly MJ, Corvin AP, Holmans PA, Blackwood DH, Gurling HM, Owen MJ, Purcell SM, Sklar P, Craddock N; Wellcome Trust Case Control Consortium. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nat Genet. 2008 Sep;40(9):1056-8. PubMed PMID: 18711365; PubMed Central PMCID: PMC2703780. 3: O'Donovan MC, Craddock N, Norton N, Williams H, Peirce T, Moskvina V, Nikolov I, Hamshere M, Carroll L, Georgieva L, Dwyer S, Holmans P, Marchini JL, Spencer CC, Howie B, Leung HT, Hartmann AM, Möller HJ, Morris DW, Shi Y, Feng G, Hoffmann P, Propping P, Vasilescu C, Maier W, Rietschel M, Zammit S, Schumacher J, Quinn EM, Schulze TG, Williams NM, Giegling I, Iwata N, Ikeda M, Darvasi A, Shifman S, He L, Duan J, Sanders AR, Levinson DF, Gejman PV, Cichon S, Nöthen MM, Gill M, Corvin A, Rujescu D, Kirov G, Owen MJ, Buccola NG, Mowry BJ, Freedman R, Amin F, Black DW, Silverman JM, Byerley WF, Cloninger CR; Molecular Genetics of Schizophrenia Collaboration. Identification of loci associated with schizophrenia by genome-wide association and follow-up. Nat Genet. 2008 Sep;40(9):1053-5. PubMed PMID: 18677311.
Start Year 2006
 
Description Identifying susceptibility genes for attention deficit hyperactivity disorder with antisocial behaviour as a covariate 
Organisation The Wellcome Trust Sanger Institute
Country United Kingdom 
Sector Charity/Non Profit 
PI Contribution co applicant Study design and acquisition of funding as well as the subsequent direction of the research strategy. Also involved in data interpretation and the writing of publications.
Collaborator Contribution co applicant
Impact As this study is currently in the data collection phase, few outputs are available. The following manuscripts have been prepared and submitted for publication - "Genotype link with extreme antisocial behavior: the contribution of cognitive pathways" Kate Langley, Jon Heron, Michael C. O'Donovan, Michael J. Owen, Anita Thapar - submitted to JAMA "Rare chromosomal deletions and duplications are associated with attention deficit hyperactivity disorder and overlap with those conferring susceptibility to autism and schizophrenia." Nigel M. Williams, Irina Zaharieva, Andrew Martin, Kate Langley, Kiran Mantripragada, Peter Holmans, Michael O'Donovan, Michael J. Owen, Anita Thapar - submitted to The Lancet In collaboration with colleagues as part of the international ADHD molecular genetics network, we have contributed to a GWAS study of ADHD and associated meta-analyses. This has resulted in the following output: "Case control genome-wide association of Attention deficit/ hyperactivity disorder" The IMAGE II Consortium - JAACAP "Meta-analysis of genome-wide association studies of Attention deficit/ hyperactivity disorder" ADHD GWAS Consortium - Submitted to JAACAP
Start Year 2006
 
Description Identifying susceptibility genes for developmental dyslexia on chromosome 6 
Organisation AXA
Department AXA PPP Healthcare
Country United Kingdom 
Sector Private 
PI Contribution co applicant Julie Williams with Southampton University
Collaborator Contribution co applicant
Impact see report for G033429
 
Description Investigating genetic and environmental risk factors for sub-clinical psychosis like symptoms in birth cohort study 
Organisation Government of Wales
Department Department of Health
Country United Kingdom 
Sector Public 
PI Contribution co applicant ,Stan Zammit, ALSPAC - Bristol Research team developed and are leading this project, including supervision of data collection, cleaning and entry, data analysis, and preparation of manuscripts
Collaborator Contribution co applicant
Impact Work from this project has contributed towards securing further research funding (The aetiology of psychosis high-risk mental states during adolescence in the ALSPAC cohort. MRC Grant: G0701503). Publications include: 1-3 1. Zammit S, Thomas K, Thompson A, Horwood J, Menezes P, Gunnell D, et al. Maternal tobacco, cannabis and alcohol use during pregnancy and risk of adolescent psychotic symptoms in offspring. Br J Psychiatry 2009;195(4):294-300. 2. Zammit S, Odd D, Horwood J, Thompson A, Thomas K, Menezes P, et al. Investigating whether adverse prenatal and perinatal events are associated with non-clinical psychotic symptoms at age 12 years in the ALSPAC birth cohort. Psychol Med 2009;39(9):1457-67. 3. Zammit S, Horwood J, Thompson A, Thomas K, Menezes P, Gunnell D, et al. Investigating if psychosis-like symptoms (PLIKS) are associated with family history of schizophrenia or paternal age in the ALSPAC birth cohort. Schizophr Res 2008;104(1-3):279-86.
 
Description Linkage disequilibrium genome scan 
Organisation Quest Diagnostics
Department Celera Diagnostics
Country United States 
Sector Private 
PI Contribution co applicant J Williams commercial support - finished 2006
Collaborator Contribution co applicant
Impact see report for G033429
 
Description Mapping trans-acting factors in psychiatric genetics 
Organisation Medical Research Council (MRC)
Country United Kingdom 
Sector Public 
PI Contribution co applicant with M Van den Bree
Collaborator Contribution co applicant
Impact see report on G0300943
 
Description PGC 
Organisation Psychiatric GWAS Consortium (PGC)
Country Global 
Sector Academic/University 
PI Contribution We contribute to the international Psychiatric Genetics Consortium PGC-data, analysis, initating new papers and helping with co-ordination. AThapar was the ADHD representative for the Cross Disorders Group for 2 years. We remain active contributors to the PGC ADHD group
Collaborator Contribution PGC involves the largest world wide psychiatric genetics collaboration and data set. This allows us access to the data set for hypothesis generation
Impact Research papers as recorded under publications. PhD studentship data.
Start Year 2008
 
Description PGC 
Organisation Psychiatric GWAS Consortium (PGC)
Country Global 
Sector Academic/University 
PI Contribution We contribute to the international Psychiatric Genetics Consortium PGC-data, analysis, initating new papers and helping with co-ordination. AThapar was the ADHD representative for the Cross Disorders Group for 2 years. We remain active contributors to the PGC ADHD group
Collaborator Contribution PGC involves the largest world wide psychiatric genetics collaboration and data set. This allows us access to the data set for hypothesis generation
Impact Research papers as recorded under publications. PhD studentship data.
Start Year 2008
 
Description ART public meetings 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? Yes
Geographic Reach Regional
Primary Audience Public/other audiences
Results and Impact Hosted public meeting supported by the Alzheimer's Research Trust. In addition to events hosted with the University we have also presented our research finding to carers, and indiduals with Alzheimer's disease at Alzheimer's Society regional meeting inCardiff, Swansea, Blackwood and Caerleon and to members ot the Newport Carers Group and County Hospital Carers Group, Pontypool.

raising the profile of our research
Year(s) Of Engagement Activity 2007
 
Description Advanced Therapies in Neurodegeneration , Champalimaud Centre for the unknown, Lisbon, Portugal 23-30 April 2020 (converted to online) Taking stem cells towards the clinic for Huntington's disease. 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact plenary talk
Year(s) Of Engagement Activity 2020
URL https://www.mariecuriealumni.eu/news/webinar-advanced-therapies-neurodegeneration-bridging-neuroscie...
 
Description Alzheimer's gene study achieves landmark breakthrough 
Form Of Engagement Activity A press release, press conference or response to a media enquiry/interview
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Media (as a channel to the public)
Results and Impact Cardiff University publicised publication in Nature Genetics "Genetic meta-analysis of diagnosed Alzheimer's disease identifies novel risk loci and implicates Abeta, Tau, immunity and lipid processing" - aiming to raise public awareness of research being undertaken at UK Dementia Research Institute Cardiff
Year(s) Of Engagement Activity 2019
 
Description Alzheimer's research newsletter 
Form Of Engagement Activity A magazine, newsletter or online publication
Part Of Official Scheme? Yes
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact we have produced an annual resarch newsletter for over 5 years. The nesletter is distributed to all members of the MRC cohort, healthcare Professionals and members of the public. The ciculation of this newsletter is around 1,500

raises the profile of the research
Year(s) Of Engagement Activity 2008,2009,2010,2011,2012,2013,2014
 
Description BBC radio interview 
Form Of Engagement Activity A press release, press conference or response to a media enquiry/interview
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Media (as a channel to the public)
Results and Impact Radio interview BBC Forty research groups led by scientists in Cardiff, France and the United States have been working more closely together and have now pooled a worldwide database of 90,000 samples. "We're about to submit a paper that is enormously exciting and which I think will really change, without a doubt, what we think of Alzheimer's disease going forward," Professor Julie Williams, head of the research team at Cardiff University, said. "Over the last five or six years we've been successful in identifying 30 genes that increase - or decrease - your risk for Alzheimer's disease. Now this is telling us what some of the major components in disease development are. It's new, it's exciting; it's a different perspective on what Alzheimer's disease is."
Year(s) Of Engagement Activity 2018
URL http://www.bbc.co.uk/news/uk-wales-36286847
 
Description CLINICAL TRIALS IN HD: WHAT HAPPENED IN 2020 AND WHAT CAN WE EXPECT IN 2021, European Huntington's Association Family meeting. Online, 16th Dec 2020 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Patients, carers and/or patient groups
Results and Impact Presentation and discussion with European Huntington's patient and family group. Presentation on current and future research prospects for Huntington's disease.
Year(s) Of Engagement Activity 2020
 
Description Can Anti-sense oligonucleotides (ASOs) provide a disease-modifying strategy for Huntington's disease? British Pharmacological Society, online, 14- 18 Dec 2020 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact Presentation to British Pharmacology Society
Year(s) Of Engagement Activity 2020
 
Description Interview for national news 
Form Of Engagement Activity A press release, press conference or response to a media enquiry/interview
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Media (as a channel to the public)
Results and Impact Interview on national TV which is broadcast worldwide describing set up of Cardiff Univ receiving funding to set up as a UK dementia centre
Year(s) Of Engagement Activity 2018
URL http://www.bbc.co.uk/news/uk-wales-south-east-wales-39646667
 
Description Interview for regional news 
Form Of Engagement Activity A press release, press conference or response to a media enquiry/interview
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Media (as a channel to the public)
Results and Impact Interview on regional news to discuss setting up of new DRI UK laboratories in Cardiff and work on dementia research
Year(s) Of Engagement Activity 2018
URL http://www.itv.com/news/wales/2017-04-20/dementia-centre-to-offer-step-change-in-research/
 
Description Keynote speech Sutcliffe Kerr Lecture 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Other audiences
Results and Impact Keynote speech at annual Walton Centre, Sutcliffe Kerr Lecture
Year(s) Of Engagement Activity 2019
 
Description Local news item on brain donation for dementia research 
Form Of Engagement Activity A press release, press conference or response to a media enquiry/interview
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Public/other audiences
Results and Impact Older people in Wales are being urged to think about donating their brains after they die to help scientists researching dementia. This has sparked questions and debates - 80 comments within 24 hours. It will definitely influence people by raising awareness of the disease, the process of donation, benefits of donation/research and also opting in/out law change. We are confident this will increase the number of healthy/diseased donations and positively impact research field.
Year(s) Of Engagement Activity 2018
URL http://www.bbc.co.uk/news/uk-wales-43084710
 
Description MDF meetings 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? Yes
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact Talks and workshops are regulalry given at both local and national MDF meetings

raises profile of research
Year(s) Of Engagement Activity 2008
 
Description Medical Women's Federation Spring Conference 2018 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact Presentation on 'Finding the causes of Alzheimer's disease'
Year(s) Of Engagement Activity 2018
 
Description NEURODEM Annual Conference 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? Yes
Geographic Reach National
Primary Audience Public/other audiences
Results and Impact Presented our research at the NEURODEM annual conference, which is attended by service users and patients.

raised profile of research
Year(s) Of Engagement Activity 2008
 
Description Natural History Study SHIELD HD EHDN Virtual Plenary Session September 11th 2020 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Professional Practitioners
Results and Impact plenary talk in collaboration with Triplet Therapeutics
Year(s) Of Engagement Activity 2020
URL http://www.ehdn.org/events/ehdn2020-plenary-meeting-2/
 
Description Not Mad, Manic 
Form Of Engagement Activity A magazine, newsletter or online publication
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Public/other audiences
Results and Impact Participate in BBC Wales' Week In Week Out Documentary

http://www.bdrn.org/Bipolar TV.html
Year(s) Of Engagement Activity 2008
 
Description Pendulum articles 
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 Two page articles are wrtiten in each edition of the Pendulum magazine - the journal of the Manic Dpression Fellowship

Raising profile of research
Year(s) Of Engagement Activity 2008
 
Description Presentation to Birmingham University Neuroscience and Neurology 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Professional Practitioners
Results and Impact Presentation to Professionals and students and Birmingham University on challenges of clinical translation of cell therapies.
Year(s) Of Engagement Activity 2020
 
Description Press releases and Media interviews 
Form Of Engagement Activity A press release, press conference or response to a media enquiry/interview
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Media (as a channel to the public)
Results and Impact multiple interviews and press releases relating to our research in local, national and international - newspapers, journal, radio and television. Describing the research conducted by our teams.

Disseminated information and knowledge and raised the profile of our research.
Year(s) Of Engagement Activity 2006,2007,2008,2009
 
Description Public information website 
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 Developed and host public inforation website about genetics and bipolar disorder to provide information/support following broadcast of Eastenders episodes that deal with genetics Http;//www.bipinfo.org Prof N Craddock and Dr I Jones were advisors to the BBC Eastenders programme writers on the bipolar disorder story lines.

raise profile of research
Year(s) Of Engagement Activity 2009
 
Description Quote for This is Wales publication 
Form Of Engagement Activity A magazine, newsletter or online publication
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Industry/Business
Results and Impact Quotation provided on the subject of innovation in Wales for trade magazine, emphasising research focus on dementia, specifically Alzheimer's disease
Year(s) Of Engagement Activity 2018
 
Description Recorded interview ARUK conference March 2018 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Other audiences
Results and Impact An interview with Video Journal Dementia at ARUK Conference 2018 discussing work at Cardiff DRI UK - online publication aimed at healthcare professionals
Year(s) Of Engagement Activity 2018
URL https://vjdementia.com/speaker/julie-williams
 
Description Secret life of a Manic Depressive 
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 Participated in a 2 part BBC Documentary in which Stephen Fry enrolled in our research on camera. http://www.bdrn.org/Stephen Frys participation.html

Documentary won a BAFTA. Increase in participants in our research Raised profile of our project
Year(s) Of Engagement Activity 2006
URL http://bdrn.org/stephen-frys-partisipation/
 
Description Virtual round table debate - Improving access to care and treatment for HD patients and families: what role for policymakers?" Hosted by the European Huntington's Association and the European Federation of Neurological Associations. 
Form Of Engagement Activity A formal working group, expert panel or dialogue
Part Of Official Scheme? No
Geographic Reach International
Primary Audience Policymakers/politicians
Results and Impact Virtual "Round table event" of professionals, politicians, patient organisations, policy makers, professionals to discuss patient access to current and future care and treatments for Huntington's disease.
Year(s) Of Engagement Activity 2020
URL https://www.youtube.com/watch?v=Lq_8BHFBL7s
 
Description Wales Gene Park 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? Yes
Geographic Reach Local
Primary Audience Public/other audiences
Results and Impact involved in the Wales Gene Park, of which one of the partners is Techniquest, Cardiff's public centre for science discovery. Public and professional education in relation to genetics, including neurogenetics, is a major part of the Wlaes Gene Park's Mission

raised awareness, combating stigma
Year(s) Of Engagement Activity 2006,2007,2008,2009
 
Description What's the Problem? 
Form Of Engagement Activity A magazine, newsletter or online publication
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Media (as a channel to the public)
Results and Impact Participated in MTV programme "What's the Problem?" in which Kerry Katona tried to understand her illness. She enrols in the research on camera Http://dbrn.org/kerry katonas Participation.html

raised profile of our research
Year(s) Of Engagement Activity 2009