Intellectual Disability and Mental Health: Assessing Genomic Impact on Neurodevelopment (IMAGINE)
Lead Research Organisation:
University College London
Department Name: Institute of Child Health
Abstract
In 2010, there were nearly 1.2 million people with intellectual disabilities (ID) in England, of whom 298,000 were children under 18 years of age. Although the cause of intellectual disability can be events such as extreme prematurity, birth injury or brain infections, genetic factors could account for 85%. Some genetic risk is inherited, but not all. Recent research has shown that, during the formation of the egg or sperm, minor chromosomal structural anomalies can occur. They are known as copy number variations (CNVs). The most serious CNVs are not present in either parent, but are 'newly occurring'. Fortunately, these are rare events, but if they occur in key regions of our genome they are strongly associated with ID. Nowadays, the cost of examining a patient's DNA for CNV is coming down dramatically. In the UK nowadays, nearly all children with ID presenting to paediatric services have the test. The National Health Service (NHS) pays, and reports are stored in the UK Regional Genetics Centres (RGC).
In about 14%, the test reveals a CNV that is probably the cause of ID. Up to 45,000 people each year will have these tests by 2015. Consequently, there is an enormous wealth of information about CNV held within UK RGC. Around the world, there is great interest in the genetic anomalies that cause ID (and related conditions such as autism or epilepsy). Knowing that a particular CNV may cause ID is valuable, but ID is commonly associated with severe behavioural and emotional problems too. We do not know how these relate to the genetic anomaly. In adult life, some individuals with ID go on to have more serious mental illness such as schizophrenia. We do not know why this illness develops in some people with ID but not in others. When a clinically significant CNV is found in a child with ID, families deserve to be told what the future holds for that child, and how they should best manage behavioural and educational issues to avert poor mental health outcomes. Our unique and novel programme of research aims to rectify that deficiency. Our main objective is to create a novel and comprehensive genetic knowledge base linked to detailed information about adjustment in childhood and adulthood, which we will compile from the two study phases. Our IMAGINE legacy database will be accessible to clinicians managing people with ID, not only in the UK but also around the world, and its establishment will benefit ID children and adults alike.
In the first phase, we will draw on the opportunity offered by the NHS-based resource of CNV reports. Because each clinically significant CNV is rare, we will have to collect a very large sample, from all UK RGC. We will focus on behavioural adjustment in early to middle childhood, and aim to recruit around 10,000 families. We will obtain parent reports about behaviour and abilities of this sample of children online, or by telephone, using well-tested measures of behavioural adjustment, social circumstances and medical history. We will follow-up families over 2 years to allow us to assess the stability of emotional/behavioural problems, to identify the importance of environmental risks, such as parental mental health, ethnicity or poverty.
In the second phase, we will focus on 4 relatively common CNV with a relatively high risk of poor mental health in adulthood. Our aim is to discover, by intensive investigation and personal assessment, additional risk and resilience influences. We will select children with the designated CNVs from the national study, study their abilities and their adjustment by home-based assessments, and follow them up over 2 years. We will also recruit adults with ID who possess the same 4 CNVs, to study long-term outcomes. They will also be visited and tested at home. In this way we aim to discover, for the first time, how the risk attaching to these important CNV manifests in childhood and adulthood, and potentially identify points for intervention to ameliorate that risk
In about 14%, the test reveals a CNV that is probably the cause of ID. Up to 45,000 people each year will have these tests by 2015. Consequently, there is an enormous wealth of information about CNV held within UK RGC. Around the world, there is great interest in the genetic anomalies that cause ID (and related conditions such as autism or epilepsy). Knowing that a particular CNV may cause ID is valuable, but ID is commonly associated with severe behavioural and emotional problems too. We do not know how these relate to the genetic anomaly. In adult life, some individuals with ID go on to have more serious mental illness such as schizophrenia. We do not know why this illness develops in some people with ID but not in others. When a clinically significant CNV is found in a child with ID, families deserve to be told what the future holds for that child, and how they should best manage behavioural and educational issues to avert poor mental health outcomes. Our unique and novel programme of research aims to rectify that deficiency. Our main objective is to create a novel and comprehensive genetic knowledge base linked to detailed information about adjustment in childhood and adulthood, which we will compile from the two study phases. Our IMAGINE legacy database will be accessible to clinicians managing people with ID, not only in the UK but also around the world, and its establishment will benefit ID children and adults alike.
In the first phase, we will draw on the opportunity offered by the NHS-based resource of CNV reports. Because each clinically significant CNV is rare, we will have to collect a very large sample, from all UK RGC. We will focus on behavioural adjustment in early to middle childhood, and aim to recruit around 10,000 families. We will obtain parent reports about behaviour and abilities of this sample of children online, or by telephone, using well-tested measures of behavioural adjustment, social circumstances and medical history. We will follow-up families over 2 years to allow us to assess the stability of emotional/behavioural problems, to identify the importance of environmental risks, such as parental mental health, ethnicity or poverty.
In the second phase, we will focus on 4 relatively common CNV with a relatively high risk of poor mental health in adulthood. Our aim is to discover, by intensive investigation and personal assessment, additional risk and resilience influences. We will select children with the designated CNVs from the national study, study their abilities and their adjustment by home-based assessments, and follow them up over 2 years. We will also recruit adults with ID who possess the same 4 CNVs, to study long-term outcomes. They will also be visited and tested at home. In this way we aim to discover, for the first time, how the risk attaching to these important CNV manifests in childhood and adulthood, and potentially identify points for intervention to ameliorate that risk
Technical Summary
Our study will evaluate the impact of rare CNV on risk of mental health disorder in childhood and adulthood by utilizing data on individuals with ID tested by aCGH within NHS UK genetics services (~100,000 by 01/04/2014). From data mining we will identify clinically significant CNV and conduct internet-based population phenotyping (~10,000 by 31/12/2016). We will take advantage of existing NHS resources and validated, inexpensive and appropriate methodologies for on-line phenotyping [80% of UK families have internet access at home]. The study offers remarkable value for money. It will comprise two primary workstreams (WS1 & WS2), which will be closely interconnected and complementary. First, a national phenotypic 'extensive' survey of children with ID who possess CNV abnormalities reported as clinically significant from (aCGH), based on data mining from UK Regional Genetics Centres (RGC). WS1 will focus on behavioural adjustment in early to middle childhood. Nearly all assessments will be on-line, or by telephone, using standardized measures of behavioural adjustment, social circumstances and medical history. Recruitment will continue from study years 2014-2016. A baseline assessment, with follow-up at 6, 12, 18 and 24 months (2016-2018) will allow evaluation of stability of emotional/behavioural problems in relation to genotype and will measure interacting factors linked to environmental risk. WS2 will conduct 'intensive' phenotyping of individuals with CNV-associated ID, focusing on 4 genetic anomalies previously reported to be associated with high risk of adverse mental health outcome and poor adaptive functioning [deletions at 1q21.1, 15q11.2, 15q13.3, 16p11.2]. Children with the selected CNVs will be sourced from the national phenotypic study and followed up, initially over 24 months. Adults with ID carrying the same CNVs, sourced from UK NHS RGC, will be recruited to study long-term outcomes. Dedicated research teams will test participants in their homes.
Planned Impact
Our study will impact short-term upon the domains of clinical practice and quality of life for affected families. Potential economic benefits include more efficient targeting of resources and reduced familial disruption. Longer-term, knowledge arising from genetic discoveries could support partnership with industry through targeted drug development. We will work closely with stakeholders throughout this programme, including the charity UNIQUE which will be represented on Scientific Advisory Board.
Clinicians
Clinicians increasingly request specialist genetic investigations for children with intellectual disability [ID] (35,000 tests p.a.). Usually, the results do not translate into specific recommendations for management or prognostic statements. By linking, for the first time, genotypic data on specified CNV with standardized phenotypic data, our study will generate clinically valuable information. Unusual behaviour patterns or emotional disorders are all too readily ascribed to inappropriate parenting practices, often by parents themselves. Recognizing common disorder-specific patterns is the first step to reassuring parents, and teaching clinicians/social support staff. Impact will reduce self-blaming and stress, with resultant improved quality of life for affected families. Impact timescale < 5years.
Children and Families affected by ID
Our follow-up studies will measure interaction cascades between genotypic/phenotypic characteristics of ID children and their influence upon family life, friendships, learning and leisure activities. Impact of child behaviour can be reliably and easily measured across time, and may independently predict future symptoms and psychiatric disorders. Potential value includes an opportunity to measure the interactive process by which disturbed emotions and behaviour can undermine family/individual quality of life. The approach should reveal new opportunities for intervention. Effective intervention can enhance parents' economic activity (e.g. by promoting their mental health, reducing school exclusions, limiting risk of parental separation). Impact timescale <5 years.
Education and Care Professionals
Intellectual disability implies global impairments in cognitive skills. Yet some developmental trajectories may be preserved (exemplified by the relatively good language skills of children with Williams syndrome). Parsing the wide range of ID by CNV subtyping, may allow the identification of rare variant disorders in which islets of ability are common. Gaining such knowledge about specific CNV has implications for education planning, and fostering the maximization of individual potential. Such discoveries could inform policy on the management of children with CNV-related ID, including support required to mainstream, or provision of speech and language services. Information on environmental factors influencing emergence of challenging behaviour linked to genotypic risk could point to genotype-specific interventions, reducing risk of transfer to residential care and the associated costs. Impact timescale <5 years.
Clinical Pharmacology
Developmental pathways in ID overlap with autism, schizophrenia, and epilepsy. We lack a lifespan perspective on risk related to genotype. Our accelerated longitudinal cohort study, linking genotype (with, in due course, supplementary genome-sequencing) to phenotype could facilitate pathway and network analysis of complex 'omics data in high-risk populations. There are potential synergies that could lead, in longer term, to academic-pharmaceutical industry partnerships leading to the discovery of causal mechanisms and potential novel drug targets for intervention. Impact timescale <10 years.
Training of skilled researchers
Within the framework of the program we will be fostering the academic skills of the three junior Co-I (Mandy, St Pourcain, Baker), all of whom are on a career track to senior positions. Impact timescale <5 years.
Clinicians
Clinicians increasingly request specialist genetic investigations for children with intellectual disability [ID] (35,000 tests p.a.). Usually, the results do not translate into specific recommendations for management or prognostic statements. By linking, for the first time, genotypic data on specified CNV with standardized phenotypic data, our study will generate clinically valuable information. Unusual behaviour patterns or emotional disorders are all too readily ascribed to inappropriate parenting practices, often by parents themselves. Recognizing common disorder-specific patterns is the first step to reassuring parents, and teaching clinicians/social support staff. Impact will reduce self-blaming and stress, with resultant improved quality of life for affected families. Impact timescale < 5years.
Children and Families affected by ID
Our follow-up studies will measure interaction cascades between genotypic/phenotypic characteristics of ID children and their influence upon family life, friendships, learning and leisure activities. Impact of child behaviour can be reliably and easily measured across time, and may independently predict future symptoms and psychiatric disorders. Potential value includes an opportunity to measure the interactive process by which disturbed emotions and behaviour can undermine family/individual quality of life. The approach should reveal new opportunities for intervention. Effective intervention can enhance parents' economic activity (e.g. by promoting their mental health, reducing school exclusions, limiting risk of parental separation). Impact timescale <5 years.
Education and Care Professionals
Intellectual disability implies global impairments in cognitive skills. Yet some developmental trajectories may be preserved (exemplified by the relatively good language skills of children with Williams syndrome). Parsing the wide range of ID by CNV subtyping, may allow the identification of rare variant disorders in which islets of ability are common. Gaining such knowledge about specific CNV has implications for education planning, and fostering the maximization of individual potential. Such discoveries could inform policy on the management of children with CNV-related ID, including support required to mainstream, or provision of speech and language services. Information on environmental factors influencing emergence of challenging behaviour linked to genotypic risk could point to genotype-specific interventions, reducing risk of transfer to residential care and the associated costs. Impact timescale <5 years.
Clinical Pharmacology
Developmental pathways in ID overlap with autism, schizophrenia, and epilepsy. We lack a lifespan perspective on risk related to genotype. Our accelerated longitudinal cohort study, linking genotype (with, in due course, supplementary genome-sequencing) to phenotype could facilitate pathway and network analysis of complex 'omics data in high-risk populations. There are potential synergies that could lead, in longer term, to academic-pharmaceutical industry partnerships leading to the discovery of causal mechanisms and potential novel drug targets for intervention. Impact timescale <10 years.
Training of skilled researchers
Within the framework of the program we will be fostering the academic skills of the three junior Co-I (Mandy, St Pourcain, Baker), all of whom are on a career track to senior positions. Impact timescale <5 years.
Organisations
- University College London (Lead Research Organisation)
- Maastricht University (UM) (Collaboration)
- Farr Institute of Health Informatics Research (Collaboration)
- Cardiff University (Collaboration)
- Simons Foundation (Collaboration)
- University of Leuven (Collaboration)
- Unique - The Rare Chromosome Disorder Support Group (Collaboration)
- Max Appeal (Collaboration)
- University of Bristol (Collaboration)
Publications
Cunningham AC
(2022)
Assessment of emotions and behaviour by the Developmental Behaviour Checklist in young people with neurodevelopmental CNVs.
in Psychological medicine
Cunningham AC
(2019)
Using kinematic analyses to explore sensorimotor control impairments in children with 22q11.2 deletion syndrome.
in Journal of neurodevelopmental disorders
Cunningham AC
(2021)
Coordination difficulties, IQ and psychopathology in children with high-risk copy number variants.
in Psychological medicine
Davies RW
(2020)
Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome.
in Nature medicine
Doherty JL
(2024)
Atypical cortical networks in children at high-genetic risk of psychiatric and neurodevelopmental disorders.
in Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology
Donnelly N
(2023)
Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach.
in Molecular autism
Drakulic D
(2020)
Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD.
in Molecular autism
Title | Share your Rare |
Description | In collaboration with Phenotypica, creative workshops were carried out with the rare genetic condition community to produce poetry and artwork. https://www.ncmh.info/engagement-involvement/creative-complexity/ |
Type Of Art | Artwork |
Year Produced | 2022 |
Impact | Opened up conversations on genomics and mental health. Developed stronger links with third sector organisations, including Genetic Alliance UK. |
URL | https://phenotypica.org/projects/share_your_rare/index.html |
Description | Autism Clinical Gene (Locus) List Workshop, Toronto |
Geographic Reach | Multiple continents/international |
Policy Influence Type | Membership of a guideline committee |
Description | Child of the North 2024 Campaign |
Geographic Reach | National |
Policy Influence Type | Citation in other policy documents |
URL | https://www.n8research.org.uk/research-focus/child-of-the-north/2024-campaign/ |
Description | Expert steering group to support an NIHR & DHSC evidence synthesis on rare conditions and mental health |
Geographic Reach | National |
Policy Influence Type | Contribution to a national consultation/review |
Description | IMAGINE publication citation in report prepared for the Child of the North All-Party Parliamentary Group |
Geographic Reach | National |
Policy Influence Type | Citation in other policy documents |
Impact | The Child of the North APPG have circulated the repot widely and aim to use the report to develop policy solutions that will create lasting change. |
URL | https://www.healthequitynorth.co.uk/app/uploads/APPG-REPORT-SEPT-23.pdf |
Description | International Working Party - Guidelines for Development of Paediatric Glucocorticoid Toxicity Index |
Geographic Reach | Multiple continents/international |
Policy Influence Type | Membership of a guideline committee |
Description | Invitation as a member of an expert panel - European Reference Network ITHACA |
Geographic Reach | Europe |
Policy Influence Type | Membership of a guideline committee |
Description | Organised workshop in collaboration with the Government's Department of Health and Social Care (DHSC) on the topic of accessing mental health services for children and young people living with rare conditions. |
Geographic Reach | National |
Policy Influence Type | Citation in other policy documents |
Description | Rare Disease Working Transition Group chaired by Prof Sue Hill Chief Scientific Officer for NHSE (Prof Raymond). |
Geographic Reach | National |
Policy Influence Type | Membership of a guideline committee |
Description | Dissecting the effects of genomic variants on neurobehavioral dimensions in CNVs enriched for neuropsychiatric disorders |
Amount | $12,000,000 (USD) |
Organisation | National Institute of Mental Health |
Sector | Hospitals |
Country | Sri Lanka |
Start | 03/2019 |
End | 03/2024 |
Description | EATING DISORDERS AND SELF-HARM FELLOWSHIP |
Amount | £289,575 (GBP) |
Funding ID | MRF-058-0015-F-CHAW-C0867 |
Organisation | Medical Research Council (MRC) |
Department | Medical Research Foundation |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 09/2021 |
End | 09/2024 |
Description | Future Minds Programme |
Amount | £650,000 (GBP) |
Organisation | The Waterloo Foundation |
Sector | Charity/Non Profit |
Country | United Kingdom |
Start | 09/2018 |
End | 09/2024 |
Description | Improving mental health for children with neurodevelopmental disabilities: A Knowledge Transfer Partnership between Cerebra and Cardiff University |
Amount | £216,320 (GBP) |
Funding ID | 511379 |
Organisation | Innovate UK |
Sector | Public |
Country | United Kingdom |
Start | 06/2018 |
End | 06/2021 |
Description | Integrating genetic, clinical and phenotypic data to advance stratification, prediction and treatment in mental health. |
Amount | £971,676 (GBP) |
Funding ID | MC_PC_17212 |
Organisation | Medical Research Council (MRC) |
Sector | Public |
Country | United Kingdom |
Start | 03/2018 |
End | 03/2020 |
Description | Physical and mental health multimorbidity across the lifespan (LIfespaN multimorbidity research Collaborative (LINC)). |
Amount | £3,034,322 (GBP) |
Funding ID | MR/W014416/1 |
Organisation | Medical Research Council (MRC) |
Sector | Public |
Country | United Kingdom |
Start | 12/2021 |
End | 11/2025 |
Description | Pilot study to develop and 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 | Programme Grant |
Amount | £2,548,515 (GBP) |
Funding ID | 169202 |
Organisation | Medical Research Council (MRC) |
Sector | Public |
Country | United Kingdom |
Start | 03/2016 |
End | 09/2019 |
Description | Targeting ERK signalling to ameliorate intellectual disability and autism spectrum disorder associated with chromosomal rearrangements at 16p11.2 |
Amount | £1,181,767 (GBP) |
Funding ID | MR/S037667/1 |
Organisation | Medical Research Council (MRC) |
Sector | Public |
Country | United Kingdom |
Start | 05/2019 |
End | 05/2023 |
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 |
Title | IMAGINE ID Database |
Description | A main objective of the IMAGINE-ID study was to create a database which contained all phenotypic and genotypic information associated with children recruited into the study, which would be a resource for others researching rare genetic diseases associated with intellectual disability. The backend of this database has now been constructed in collaboration with the Farr Institute of Health Informatics at UCL. There are 4480 variables in the database, and a data dictionary has been compiled. We recognise that there will be a substantial piece of work to construct the front-end of the database, and this is planned to be completed in the next year. |
Type Of Material | Database/Collection of data |
Year Produced | 2017 |
Provided To Others? | No |
Impact | Use in current ongoing analysis within the IMAGINE ID study - the database has facilitated identification of cohort subsets and analysis using multiple sources of data. |
Description | 16p11.2 European Consortium and Simons VIP |
Organisation | Simons Foundation |
Country | United States |
Sector | Charity/Non Profit |
PI Contribution | Shared research data, allowing for an international study on mental health in 16p11.2 Deletion and Duplication Syndromes |
Collaborator Contribution | Shared research data, allowing for an international study on mental health in 16p11.2 Deletion and Duplication Syndromes |
Impact | Published paper: Niarchou M, Chawner SJRA, Doherty JL, Maillard AM, Jacquemont S, Chung WK..... Bree MBMVD, (2019). Psychiatric disorders in children with 16p11.2 deletion and duplication.. Translational psychiatry, 9 (1), pp. 8 |
Start Year | 2012 |
Description | Bristol University; Professor Matt Jones and Dr Ullrich Bartsch |
Organisation | University of Bristol |
Country | United Kingdom |
Sector | Academic/University |
PI Contribution | Collaborated on a project investigating the neuropsychological basis of sleep disturbances in 22q11.2 Deletion Syndrome |
Collaborator Contribution | Collaborated on a project investigating the neuropsychological basis of sleep disturbances in 22q11.2 Deletion Syndrome |
Impact | Manuscript submitted |
Start Year | 2015 |
Description | FARR Institute for Health Informatics Legacy Database |
Organisation | Farr Institute of Health Informatics Research |
Country | United Kingdom |
Sector | Academic/University |
PI Contribution | See below |
Collaborator Contribution | The FARR Institute will help the IMAGINE ID team with: -Building a legacy database for all IMAGINE ID data -Managing, storing and curating data -Metadata standards and data documentation -Data preservation strategy and standards -Formal information/data security standards |
Impact | Not as of yet. |
Start Year | 2016 |
Description | KU Leuven and Maastricht Universities |
Organisation | Maastricht University (UM) |
Country | Netherlands |
Sector | Academic/University |
PI Contribution | Shared research data for a European wide study on cognition in 22q11.2 Deletion Syndrome |
Collaborator Contribution | Shared research data for a European wide study on cognition in 22q11.2 Deletion Syndrome |
Impact | Manuscript submitted |
Start Year | 2015 |
Description | KU Leuven and Maastricht Universities |
Organisation | University of Leuven |
Country | Belgium |
Sector | Academic/University |
PI Contribution | Shared research data for a European wide study on cognition in 22q11.2 Deletion Syndrome |
Collaborator Contribution | Shared research data for a European wide study on cognition in 22q11.2 Deletion Syndrome |
Impact | Manuscript submitted |
Start Year | 2015 |
Description | MINDDS - a pan-European network for Neurodevelopmental Disorder research |
Organisation | Cardiff University |
Country | United Kingdom |
Sector | Academic/University |
PI Contribution | Currently have 17 countries in the Action, and Sweden, Finland, Italy and Greece in the process of joining. This will give us a total of 21 countries at our beginning that span the whole of the geographical European area. We also have Canada as an International Partner. Other countries may join as the Action proceeds. The Action has been allocated a budget of €58,500 for the period of Dec 1st 2017 -April 30th 2018 This is a COST action grant (to Cardiff University) under the European Cooperation in Science and Technology umbrella. |
Collaborator Contribution | To achieve this, we have created MINDDS (Maximising Research Impact in Neurodevelopmental Disorders), a research network focused on identifying and studying patients with rare NDD conditions to enhance understanding and treatment in this field. The project is supported as a European COST Action. COST (European Cooperation in Science and Technology) is Europe's longest-running framework to support trans-national research cooperation and is supported by the EU Framework Programme for Research and Innovation Horizon 2020. MINDDS will create a pan-European network of clinical scientists, preclinical researchers from both public and industrial centres and patient representatives to advance studies of NDD patients for these pathogenic CNV. The project aims to substantially accelerate research progress for NDD by three interlinked objectives. First, the initiative will create an international network for building larger patient cohorts, who are willing to participate in research. To do this, it will agree a gold standard clinical patient assessment to ensure that all key relevant data is collected in the same way and that patients can easily be compared from different national sites. Furthermore, MINDDS will establish a regulatory, legal and ethical framework for effective trans-national NDD patient research cooperation and information exchange. Second, to ensure maximum value is realised from patient-based research, MINDDS will develop standardised protocols and methods so that the same research methods are made regardless of which research centre is used. This standardisation of protocols will include whole patient studies, such as cognitive testing and brain imaging, but also new and emerging technologies of patient-derived stem cells. A knowledge nexus Lastly, MINDDS will develop an overarching online resource for sharing information - a knowledge nexus. This will include a European registry for NDD patients, who may participate in future research; a research database for active researchers and an information service for clinicians, patients, care providers and parents. For its members, MINDDS aims to bring together a community via conferences, workshops and working groups. It will train clinicians to identify and assess NDD patients with CNV, who are often children, and offer a way for them to work together to build the research cohorts. We aim to promote understanding of NDD within the research community, creating close working partnerships between research centres, both public and industrial, and the clinical frontline and patient communities. This will be done online via the knowledge nexus, but also via support for scientific exchange visits for young researchers, clinicians and patient representatives. |
Impact | The MINDDS study is being led by the team in Cardiff - I am one of the two UK representatives on the MINDDS committee. There have been two preliminary meetings to date, one in Brussels and the other in Belgrade. |
Start Year | 2017 |
Description | Maxappeal |
Organisation | Max Appeal |
Country | United Kingdom |
Sector | Charity/Non Profit |
PI Contribution | Collaboration on research recruitment, carrying out research and disseminating research findings. |
Collaborator Contribution | Collaboration on research recruitment and disseminating research findings. |
Impact | Feature on 22q11.2 Research on the national TV show BBC Breakfast (Engagement activities) |
Start Year | 2010 |
Description | Unique - Rare Chromosome Disorders Charity |
Organisation | Unique - The Rare Chromosome Disorder Support Group |
Country | United Kingdom |
Sector | Charity/Non Profit |
PI Contribution | IMAGINE ID has worked with Unique stakeholders to develop better resources for families with rare diseases and increase our understanding of these rare conditions. |
Collaborator Contribution | Unique stakeholders have advised the IMAGINE ID research team on its protocols through focus groups. |
Impact | Outcomes: -Revised IMAGINE ID protocols -New information booklet -New consent forms |
Start Year | 2014 |
Description | "Share your rare" live sci-art installation at Subatomic Circus as part of Cardiff Science Festival and Cardiff Council's Summer of Smiles |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Public/other audiences |
Results and Impact | Engage children in science and art as part of Cardiff Council's "Summer of Science", to provide educational enrichment following lockdown |
Year(s) Of Engagement Activity | 2021 |
URL | https://www.cardiff.ac.uk/news/view/2541105-share-your-rare-rare-genetic-conditions-and-mental-healt... |
Description | 16p11.2 Family Day, |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | 16p11.2 Family Day, October 2016 Cardiff University IMAGINE ID hosted another successful family day for people affected by 16p11.2 deletions and duplications, with over 150 families attending (including families that had already joined the project and families that were interested and subsequently invited to join). The event was a wonderful opportunity for the IMAGINE ID team, including Prof Skuse and Prof van den Bree, to present current research in the area. We also welcomed representatives from Unique and Simons VIP Connect who presented more about their organisations and information on the support they provide. We hope to run a follow-up day again in the future. |
Year(s) Of Engagement Activity | 2016 |
Description | 22Q Workshop Warsaw |
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 | Research findings from the IMAGINE ID project surrounding 22q11.2 deletion syndrome were shared at an international workshop with medical professionals and other researchers. Raised awareness of the condition and the research. |
Year(s) Of Engagement Activity | 2021 |
Description | 22q Ireland European Alliance Meeting |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Several members of the Cardiff University team presented at a European meeting for patients and families affected by 22q11.2 Deletion Syndrome. |
Year(s) Of Engagement Activity | 2017 |
Description | 22q11.2 Deletion Syndrome Documentary |
Form Of Engagement Activity | A broadcast e.g. TV/radio/film/podcast (other than news/press) |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Public/other audiences |
Results and Impact | 22q11.2 Deletion Syndrome Documentary In collaboration with Nottingham Trent University Centre for Broadcasting and Journalism A student from the Centre for Broadcasting and Journalism is creating a documentary to inform individuals about 22q11.2 Deletion Syndrome and to raise awareness of the syndrome. The IMAGINE-ID team at Cardiff have been asked to provide academic input to be filmed as part of the documentary. |
Year(s) Of Engagement Activity | 2017 |
Description | ACAMH podcast |
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 | I recorded a Papers Podcast, focused on my JCPP Advances paper 'Neurodevelopmental dimensional assessment of young children at high genomic risk of neuropsychiatric conditions' (https://doi.org/10.1002/jcv2.12162). Discussion points included: What are copy-number variants (CNVs) and how they impact child development. Insight into what 22q11.2 deletion syndrome is, how it is typically diagnosed, and how it is associated with psychiatric risk. Implications for clinicians and CAMH professionals. Whether there are adequate interventions targeted at early age groups. Recommendations for prevention, detection, and the targeting of interventions. |
Year(s) Of Engagement Activity | 2023 |
URL | https://www.acamh.org/podcasts/neurodevelopmental-genomic-risk-neuropsychiatric-conditions/ |
Description | ASSERT newsletter |
Form Of Engagement Activity | A magazine, newsletter or online publication |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Full page advertisement and editorial to raise profile of study and reach out to a wider audience to assist with recruitment particularly related to Angelman's syndrome patients and families |
Year(s) Of Engagement Activity | 2018 |
URL | https://www.angelmanuk.org/ |
Description | All Wales Medical Genomics Service |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Professional Practitioners |
Results and Impact | I presented the outcomes of research on copy number variants to clinical staff at Cardiff University Hospital's All Wales Medical Genomics Service. This sparked questions and discussion, and increased knowledge of psychiatric risk CNVs amongst clinicians. |
Year(s) Of Engagement Activity | 2022 |
Description | Angelman Syndrome Conference |
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 | Liverpool, 2nd-3rd October 2015 - 2 team members presented initial IMAGINE ID study findings to families from across the UK and USA. 2018 - Exhibition stand at family conference for individuals with Angelman syndrome to promote awareness and research to eligible families. |
Year(s) Of Engagement Activity | 2014,2015,2018 |
URL | https://www.angelmanuk.org/events-and-conferences-for-angelman-syndrome-assert/ |
Description | Autism Eye Magazine |
Form Of Engagement Activity | A magazine, newsletter or online publication |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Half-page advertisement plus email editorial to raise profile of study and reach out to a wider audience to assist with recruitment to study particularly related to autism |
Year(s) Of Engagement Activity | 2018 |
URL | https://www.autismeye.com/ |
Description | BRAINFest |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Professional Practitioners |
Results and Impact | IMAGINE ID team exhibited at the interactive showcase event of the Cambridge Neuroscience Festival of Brain Science, which was designed to bring together neuroscientists from across Cambridge University. This also included a VIP invite-only evening reception, where we engaged with high-profile and influential attendees. |
Year(s) Of Engagement Activity | 2017 |
Description | CEREBRA Information Leaflet |
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 | Information leaflet created for families based on identified information needs at the point of diagnosis by the CEREBRA charity, in collaboration with Professor Marianne van den Bree and Lowri O'Donovan. Leaflet advises parents on 'next steps' and signposts to credible sources of information. Sent to genetics clinics in the UK to be given to parents at the time of receiving their child's diagnosis. |
Year(s) Of Engagement Activity | 2021,2022 |
URL | https://cerebra.org.uk/wp-content/uploads/2021/04/receiving-genetic-diagnosis-web.pdf |
Description | Cambridge Rare Disease Network Annual Conference |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Professional Practitioners |
Results and Impact | Cambridge Rare Disease Network Annual Conference, October 2016 London Professor Raymond presented work about IMAGINE ID during the Innovations in Health session to approx. 200 guests attending including patient advocates, academics, researchers, industry professionals and policy-makers. From this, we have collaborated closely with the Cambridge Rare Disease Network including writing a piece for their upcoming newsletter and making connections with the organisation Special Needs Jungle who help families navigate the SEND paperwork (Special Educational Needs and Disability). |
Year(s) Of Engagement Activity | 2016 |
Description | Cambridge Rare Disease Network Summit |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Professional Practitioners |
Results and Impact | Exhibited at the annual CRDN conference meeting in Cambridge, joining other members of the rare disease community, including patients, charity/support group representatives and researchers. |
Year(s) Of Engagement Activity | 2017 |
Description | Cambridge Science Festival |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Public/other audiences |
Results and Impact | 2017 - Professor Raymond presented an evening talk entitled 'Parents as partners in research', in which she discussed the innovative method in which we are collecting data from parents and utilising their expertise in their children's behaviours by means of online assessments. The evening also included a reading of the children's book AVERY. In addition, we had an exhibition stand at the "hands-on" weekend event; an interactive session wherein we showcased the latest assessments available in the project and engaged with patients and families. 2018 - Exhibition stand at international Cambridge Science festival to promote research to the public, as well as practitioners and potential eligible study participants and families |
Year(s) Of Engagement Activity | 2017,2018 |
URL | https://www.sciencefestival.cam.ac.uk/about/past-festivals/2018-festival |
Description | Cardiff MRC Festival |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | Local |
Primary Audience | Public/other audiences |
Results and Impact | Festival at DEPOT food & entertainment venue, different fairground style engagement activities to open up coversations regarding mental health and genetics. Aimed to engage the public away from the constraints of a university setting. |
Year(s) Of Engagement Activity | 2018 |
URL | https://www.cardiff.ac.uk/news/view/1222479-all-the-fun-of-the-fair-at-cardiffs-mrc-festival |
Description | Cardiff Rare Disease Showcase |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Professional Practitioners |
Results and Impact | Dr Samuel Chawner presented a 5 minute 'lightning talk' at the event hosted by Find A Cure charity to other researchers, industry and patient groups in Cardiff Bay. |
Year(s) Of Engagement Activity | 2017 |
Description | Cardiff Rare Diseases Patient Networking Day |
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 | The Cardiff University team had an exhibition stand open to the public at the event. The event held talks from expert speakers discussing the latest advances in the field of rare diseases and also had patients talking about their experiences and perspectives on living with these conditions. |
Year(s) Of Engagement Activity | 2017 |
Description | Chromosome 18 Registry and Research Society Europe |
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 | Chromosome 18 Registry and Research Society Europe August 2016, Rome Members of the IMAGINE ID team travelled to the Chromosome 18 Registry and Research Society Europe Annual weekend family conference. Approximately 100 families attended the event and it was a fantastic opportunity to meet, interact and disseminate our work with families from around the world affected by genetic changes in Chromosome 18, as well as recruiting some of them to join the study |
Year(s) Of Engagement Activity | 2016 |
Description | Department of Education Presentation |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Policymakers/politicians |
Results and Impact | Asked by the Department for Education to produce a summary of our research about the experiences of children with rare genetic disorders and learning disabilities in school. This, together with a summary of the aims of our new multimorbidity grant was presented by the Department for Education to politicians at 10 Downing Street. This Raised awareness of the experiences of children with rare genetic disorders in school, in the hope of informing policy changes |
Year(s) Of Engagement Activity | 2021 |
Description | Department of Medical Genetics, Oslo University Hospital |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | I presented the outcomes of research on copy number variants to clinical staff at Oslo University Department of Medicial Genetics. This sparked questions and discussion, and increased knowledge of psychiatric risk CNVs amongst clinicians. |
Year(s) Of Engagement Activity | 2022 |
Description | Developmental Theme Meeting: The impact of rare copy number variants on childhood development |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Local |
Primary Audience | Professional Practitioners |
Results and Impact | A presentation of findings from IMAGINE-1 to researchers across the National Mental Health Research Institute and the Dementia Research Institute at Cardiff University, as an opportunity to discuss findings and raise awareness of the research to researchers in similar fields. |
Year(s) Of Engagement Activity | 2021 |
Description | ESRC Social Science Festival |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Schools |
Results and Impact | ESRC Social Science Festival Cardiff University's MRC Centre for Neuropsychiatric Genetics and Genomics held an event on mental health for sixth form students form the local community as part of the ESRC social science festival. Dr Samuel Chawner spoke about his research and the work of IMAGINE-ID to students. There was a great interest from sixth form students about the extent that genetics impacts child development. |
Year(s) Of Engagement Activity | 2016 |
URL | http://www.esrc.ac.uk/files/public-engagement/festival-of-social-science/festival-programme-2016/ |
Description | Eating Disorder Psychiatric Genetics Consortium seminar series "The relationship between the 16p11.2 locus and eating disorders: novel insights from rare genetic conditions" |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Raising awareness of rare genetic conditions to eating disorder clinicians and researchers |
Year(s) Of Engagement Activity | 2021 |
Description | Enable Magazine |
Form Of Engagement Activity | A magazine, newsletter or online publication |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Quarter-page advertisement in printed magazine and electronic version. Raise profile of study and reach out to a wider audience to assist with recruitment to study |
Year(s) Of Engagement Activity | 2018 |
URL | http://enablemagazine.co.uk/ |
Description | FIND magazine |
Form Of Engagement Activity | A magazine, newsletter or online publication |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Our involvement with FIND magazine - a Special Educational Needs and Disability (SEND) newsletter covering the Lancashire region - arose after a mother of a participant contacted us because she wanted to publish an article describing her experience of taking part in the study with her son. This will feature in the Spring Edition of the magazine, along with an advert for the project. |
Year(s) Of Engagement Activity | 2018 |
Description | Feature on 22q11.2 Research on BBC Wales Radio Breakfast show |
Form Of Engagement Activity | A press release, press conference or response to a media enquiry/interview |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Public/other audiences |
Results and Impact | Radio interview on 22q11.2 Deletion Syndrome |
Year(s) Of Engagement Activity | 2018 |
Description | Feature on 22q11.2 Research on the national TV show BBC Breakfast |
Form Of Engagement Activity | A press release, press conference or response to a media enquiry/interview |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Public/other audiences |
Results and Impact | BBC filming at Cardiff University focusing on 22q11.2 Deletion Syndrome research |
Year(s) Of Engagement Activity | 2018 |
Description | Findacure Rare Disease Showcase |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Members of the team presented a lightning talk at the Cardiff and Cambridge events to highlight the study to attendees from local pharma, patient support groups and research groups. At the Newcastle event IMAGINE ID had an exhibition stand to provide information to local researchers and clinical staff. |
Year(s) Of Engagement Activity | 2017 |
Description | Genetic Alliance Community Chat |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Third sector organisations |
Results and Impact | Presented Imagine ID study findings to Genetic Alliance Community members and charities. |
Year(s) Of Engagement Activity | 2022 |
Description | Genetic Alliance Genomics cafe " Share Your Rare: a creative project exploring the experience of living with a rare condition" |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Raising awareness of rare genetic conditions and research |
Year(s) Of Engagement Activity | 2022 |
Description | Genetic Disorders UK Leadership Symposium Meeting, London |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Professional Practitioners |
Results and Impact | Exhibition stand at international event to promote research to managers and CEOs of international patient support groups and charities |
Year(s) Of Engagement Activity | 2018 |
URL | https://www.geneticdisordersuk.org/leadershipsymposium/2018leadershipsymposium |
Description | Genetics Research Matters: Training and Development Event, London |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Professional Practitioners |
Results and Impact | National training event hosted by the UK Clinical research network to educate and promote national research to practitioners across the UK. |
Year(s) Of Engagement Activity | 2018 |
URL | http://www.clingensoc.org/news-events/events/genetics-research-matters-training-and-development-even... |
Description | IMAGINE ID newsletters |
Form Of Engagement Activity | A magazine, newsletter or online publication |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Study participants or study members |
Results and Impact | Our annual patient Christmas newsletter was sent to over 1,540 families in December 2017. In this year's newsletter, we put in a request to families to ask if they could help us. If they felt IMAGINE had been a worthwhile study to be a part of and if they knew of other families who would benefit from the study, we asked if they could recommend us, invite a friend or share amongst any patient groups or charities they may be involved with. This was met with plenty of enthusiasm from families, offering to pass on information and promote us in various avenues. We also sent out a mailshot to all families in September 2017, asking for feedback on the project as we wanted to share this with the RGC's to show how families are benefiting from the IMAGINE ID study. We asked if the study had been worthwhile, if they found the personalised report useful and what their overall experience of working with the IMAGINE ID team had been. We received lots of feedback, with many families commenting on how beneficial they found the report and the extent to which they had shared it. We will continue to keep regular contact with the recruited families to keep them informed about the latest findings in the project and provide opportunities to maintain their engagement. |
Year(s) Of Engagement Activity | 2017 |
Description | IMAGINE ID research update, Cambridge |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Professional Practitioners |
Results and Impact | Update of research study to Cambridge regional genetics centre including latest findings, recruitment figures and how to increase numbers of participants from their centre |
Year(s) Of Engagement Activity | 2018 |
Description | IMAGINE ID research update, Leeds |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Professional Practitioners |
Results and Impact | Update of research study to Leeds regional genetics centre including latest findings, recruitment figures and how to increase numbers of participants from their centre |
Year(s) Of Engagement Activity | 2018 |
Description | IMAGINE ID research update, North West Thames |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Professional Practitioners |
Results and Impact | Update of research study to North West Thames regional genetics centre including latest findings, recruitment figures and how to increase numbers of participants from their centre |
Year(s) Of Engagement Activity | 2019 |
Description | IMAGINE ID research update, Sheffield |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Professional Practitioners |
Results and Impact | Update of research study to Sheffield regional genetics centre including latest findings, recruitment figures and how to increase numbers of participants from their centre |
Year(s) Of Engagement Activity | 2018 |
Description | IMAGINE ID research update, Southampton |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Professional Practitioners |
Results and Impact | Update of research study to Southampton regional genetics centre including latest findings, recruitment figures and how to increase numbers of participants from their centre |
Year(s) Of Engagement Activity | 2018 |
Description | IMAGINE ID research update, St George's |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Professional Practitioners |
Results and Impact | Update of research study to St George's regional genetics centre including latest findings, recruitment figures and how to increase numbers of participants from their centre |
Year(s) Of Engagement Activity | 2018 |
Description | IMAGINE participant study engagement group |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Study participants or study members |
Results and Impact | Imagine participant study consultation group, regularly attended by 20 individuals. The lively discussion directly informs the study processes. |
Year(s) Of Engagement Activity | 2020,2021,2022 |
Description | International Congress 2016 - Royal College of Psychiatrists |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Dr Samuel Chawner and Dr Andrew Cuthbert presented about the research work of IMAGINE-ID at the Royal College of Psychiatrists International Congress. The presentations formed part of a symposium session on copy number variants and psychiatry led by the Cardiff team. It was a great opportunity to inform psychiatrists about the work of IMAGINE-ID and to discuss clinical issues that face patients with rare genetic variants and neuropsychiatric disorder. |
Year(s) Of Engagement Activity | 2016 |
URL | http://www.rcpsych.ac.uk/pdf/Full%20Program%20v50.pdf |
Description | Interview with National Institute for Health Research (NIHR) for Rare Disease Day |
Form Of Engagement Activity | A magazine, newsletter or online publication |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Professional Practitioners |
Results and Impact | Article describing research into 22q11.2 Deletion and Duplication Syndromes |
Year(s) Of Engagement Activity | 2018 |
Description | Invited 22q11 Europe presentation |
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 | I was invited to present on behalf of the IMAGINE-ID study a talk on sleep and mental health in 22q11.2 Deletion Syndrome, at the European 22q11 caregiver conference in Dublin. The talk led to questions from caregivers afterwards about the research, and strengthened links with third sector charitable organisations including 22q11 Ireland and MaxAppeal (UK 22q11 charity). |
Year(s) Of Engagement Activity | 2023 |
URL | https://22q11europe.org/ |
Description | Invited keynote speaker by Cheshire and Wirral Partnership NHS Foundation Trust |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Professional Practitioners |
Results and Impact | I was invited by Cheshire & Wirral NHS to present at their Centre for Autism, Neuro-Developmental Disorders, and Intellectual Disability conference, providing an opportunity to disseminate research findings on rare genetic conditions to clinicians and other stakeholders. |
Year(s) Of Engagement Activity | 2024 |
URL | https://www.canddid.nhs.uk/conf24 |
Description | Invited speaker at the South West of Britain NHS medical genomics meeting |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Professional Practitioners |
Results and Impact | I was an invited speaker for a conference event for regional medical genomic services held at Cardiff Heath Hospital. I was invited to present findings from the IMAGINE-ID study and on 16p11.2 genetic conditions. |
Year(s) Of Engagement Activity | 2023 |
Description | Invited talk at Frambu 16p11.2 caregiver workshop |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | I was invited by Frambu Centre for Rare Disease in Norway to present at their national gathering for 16p11.2 Duplication Syndrome, covering the latest research for parents and caregivers. |
Year(s) Of Engagement Activity | 2023 |
URL | https://frambu.no/kurs/16p11-2-duplikasjon/ |
Description | Kidz to Adultz Exhibition, Bristol |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Exhibition stand at international event to promote research to the public, families, patients, managers and CEOs of international patient support groups and charities |
Year(s) Of Engagement Activity | 2018 |
URL | https://www.kidzexhibitions.co.uk/kidz-wales/ |
Description | Kidz to Adultz Exhibition, Coventry |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Exhibition stand at international event to promote research to the public, families, patients, managers and CEOs of international patient support groups and charities |
Year(s) Of Engagement Activity | 2018 |
URL | https://www.kidzexhibitions.co.uk/kidz-middle/ |
Description | Kidz to Adultz Exhibition, Farnborough |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Exhibition stand at international event to promote research to the public, families, patients, managers and CEOs of international patient support groups and charities |
Year(s) Of Engagement Activity | 2018 |
URL | https://www.kidzexhibitions.co.uk/kidz-south/ |
Description | Kidz to Adultz Magazine |
Form Of Engagement Activity | A magazine, newsletter or online publication |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Magazine article Editorial from FIND magazine to raise profile of study and reach out to a wider audience to assist with recruitment to study particularly related to IMAGINE ID experience from a family perspective. |
Year(s) Of Engagement Activity | 2018 |
URL | https://www.lancashire.gov.uk/children-education-families/special-educational-needs-and-disabilities... |
Description | Kidz to Adultz up North |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | A new venture for the team this year was attending one of the Kidz to Adultz Exhibitions, hosted by Disabled Living. These events are totally dedicated to children and young adults up to 25 years with disabilities and additional needs. We had an exhibition stand, providing information and spoke with many parents and carers, as well as professionals who support and work with them. Exhibition stand at international event to promote research to the public, families, patients, managers and CEOs of international patient support groups and charities |
Year(s) Of Engagement Activity | 2017,2018 |
URL | https://www.kidzexhibitions.co.uk/kidz-north/ |
Description | Kleefstra Syndrome Conference, Coventry, 14th-16th August 2015 |
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 | 2 team members presented the preliminary results of the IMAGINE ID Study to Kleesftra families from the UK, Netherlands, France & USA. |
Year(s) Of Engagement Activity | 2015 |
Description | Leicester Local Offer Live |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Public/other audiences |
Results and Impact | Exhibition stand at regional event to promote rare disease awareness and research to the public, families, patients, managers and CEOs of patient support groups and charities |
Year(s) Of Engagement Activity | 2018 |
URL | https://www.leicestershire.gov.uk/education-and-children/special-educational-needs-and-disability |
Description | Library of Imagined Genes |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Public/other audiences |
Results and Impact | The Cardiff University team was involved in the second instalment of this interactive performance and installation helping the public understand the relationship between genetics, behaviour and emotions. The team also helped with the first instalment back in 2016 which took place in Green Man Festival. |
Year(s) Of Engagement Activity | 2016,2017 |
Description | Living with a Rare Disease - British Paediatric Surveillance Unit |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Professional Practitioners |
Results and Impact | IMAGINE ID exhibited at an informal networking event, focusing on rare childhood diseases and disorders, that brought together patients and carers, healthcare professionals, researchers and policy-makers. |
Year(s) Of Engagement Activity | 2017 |
Description | MINDDS ("Maximising Impact of research in NeuroDevelopmental DisorderS) meeting |
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 | Presentation of IMAGINE-ID findings to clinicians and researchers from across Europe. 2018 - Belgrade, https://mindds.eu/activities/meetings/belgrade/ 2019 - Leuven, https://mindds.eu/activities/meetings/leuven/ |
Year(s) Of Engagement Activity | 2018,2019 |
URL | https://mindds.eu/activities/meetings/belgrade/ |
Description | MINDDS training school "Eating problems and eating disorders in neuropsychiatric risk CNV carriers" |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Promoting research on eating disorders and rare genetic conditions to the european psychiatric genetic researchers and clinicians. Sharing of research assessment protocols |
Year(s) Of Engagement Activity | 2022 |
Description | MQ Mental Health Science Meeting |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Professional Practitioners |
Results and Impact | Samuel Chawner presented on 'Intellectual Disability and Mental Health: Assessing the Genomic Impact on Neurodevelopment' at the MQ Mental Health Science Meeting in London, Feburary 2018. |
Year(s) Of Engagement Activity | 2018 |
Description | MRC's Millennium Medal Science Showcase |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Policymakers/politicians |
Results and Impact | Professor Jeremy Hall attended the event and showcased the IMAGINE ID study as a "lifelong mental health" exhibitor. This entailed raising awareness of the study to parliamentarians and policymakers. |
Year(s) Of Engagement Activity | 2018 |
Description | Media piece |
Form Of Engagement Activity | Engagement focused website, blog or social media channel |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Public/other audiences |
Results and Impact | Charity Cerebra reports on our research February Newsflash: Making waves with the BBC! (cerebra.org.uk). |
Year(s) Of Engagement Activity | 2023 |
URL | https://cerebra.org.uk/?mailpoet_router&endpoint=view_in_browser&action=view&data=WzE0OSwiNDYzMWU1MT... |
Description | NHS Clinical Genetics Study Day |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Professional Practitioners |
Results and Impact | Exhibited IMAGINE ID study material at the Cambridge University Hospital Clinical Genetics Study day, attended by healthcare professionals and researchers. |
Year(s) Of Engagement Activity | 2018 |
Description | NIHR Clinical Research Network East Midlands and West Midlands Inaugural Genetics Speciality Day, Lichfield |
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 research practitioners and early career researchers to publicize successes and challenges of the study and share good practices about involving the UK CRN in study processes. |
Year(s) Of Engagement Activity | 2018 |
URL | https://www.eventbrite.co.uk/e/inaugural-genetics-specialty-event-registration-51541572230# |
Description | Phenotyping training school, Skopje Macedonia |
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 | Training school on CNV research and presentation of IMAGINE ID findings to clinicians and researchers from across Europe |
Year(s) Of Engagement Activity | 2018 |
URL | https://mindds.eu/activities/training-schools/skopje/ |
Description | Pint of Science, Cambridge |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Postgraduate students |
Results and Impact | Description of IMAGINE ID study and promoting awareness of research to local scientists |
Year(s) Of Engagement Activity | 2018 |
Description | Pint of Science, Cardiff |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Professional Practitioners |
Results and Impact | The Cardiff University team was involved in the organisation of the first ever Pint of Science festival in Cardiff which brought researchers to a local institution within the city to talk and engage with the public about science and the current research currently being undertaken in the University. |
Year(s) Of Engagement Activity | 2017 |
Description | Pos'ability Magazine |
Form Of Engagement Activity | A magazine, newsletter or online publication |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Pos'ability Magazine, an innovative disability lifestyle magazine, featured an online editorial on IMAGINE ID, as well as an advert for the project and a promotional piece about our children's book Avery. |
Year(s) Of Engagement Activity | 2018 |
Description | Presentation to Medical Genetics Clinicians at the Centre for Genomic Medicine Manchester |
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 clinical staff about IMAGINE ID findings |
Year(s) Of Engagement Activity | 2018 |
Description | Public voices shaping health research |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | Local |
Primary Audience | Public/other audiences |
Results and Impact | IMAGINE ID exhibited in the pop-up village at this public involvement forum, focusing on the importance of patients, carers and the public in the future of health research. |
Year(s) Of Engagement Activity | 2017 |
Description | Rare Revolution Magazine article |
Form Of Engagement Activity | A magazine, newsletter or online publication |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Rare Revolution magazine included a feature article about the project, written by Prof Lucy Raymond as part of their Winter 2017 "Rare Minds" issue. This followed on from a shorter promotional piece in the Summer 2017 edition of the magazine. |
Year(s) Of Engagement Activity | 2017 |
Description | RareFEST, Cambridge |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Exhibition stand at international event to promote rare disease awareness and research to the public, families, patients, managers and CEOs of international patient support groups and charities |
Year(s) Of Engagement Activity | 2018 |
URL | https://camraredisease.org/rarefest/ |
Description | Recruitment Knowledge Exchange Workshop |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Professional Practitioners |
Results and Impact | Recruitment Knowledge Exchange Workshop September 2016 London IMAGINE ID hosted this successful workshop intended for staff working at RGCs to inform them of the latest developments within the project and encourage recruitment practice sharing amongst coordinators. Over 20 staff members attended from 13 different RGCs, with all 22 RGCs receiving the relevant materials afterwards. The workshop was highly evaluated and we hope to run a follow-up workshop late in 2017. |
Year(s) Of Engagement Activity | 2016 |
Description | SEN Magazine |
Form Of Engagement Activity | A magazine, newsletter or online publication |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Patients, carers and/or patient groups |
Results and Impact | Half-page advertisement plus 100 word Avery review in What's New section of May/June 2018 issue. Raise profile of study and reach out to a wider audience to assist with recruitment to study by including advertisement in two issues with relevant articles to the study e.g. autism. |
Year(s) Of Engagement Activity | 2018 |
URL | https://senmagazine.co.uk/ |
Description | SSBP International Research Symposium |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Marie Erwood presented on 'Intellectual disability and copy number variants: mental health in the IMAGINE ID cohort.' at the Society for the Study of Behavioural Phenotypes Conference in Leiden, Netherlands, in September 2017. This conference attracted an international audience of practitioners in developmental and behavioural disorders and gave an opportunity to present our research and explore collaborations. |
Year(s) Of Engagement Activity | 2017 |
Description | Scottish Genetics Education Network |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | National |
Primary Audience | Professional Practitioners |
Results and Impact | Scottish Genetics Education Network December 2016 Ninewells Hospital Dundee Members of the IMAGINE ID team presented at the Scottish Genetics Education Network annual conference to approximately 80 delegates about the study's research processes and preliminary findings to encourage recruitment from the four RGCs in Scotland (Aberdeen, Dundee, Edinburgh & Glasgow) that had just opened. |
Year(s) Of Engagement Activity | 2016 |
Description | Seattle Club Conference on research in intellectual and developmental disabilities, Shrewsbury |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Conference for international researchers to present research in intellectual and developmental disabilities - poster presentation about IMAGINE ID. |
Year(s) Of Engagement Activity | 2018 |
URL | http://www.seattleclubconference.org/ |
Description | Smith-Magenis Syndrome Conference, Solihull, 2nd May 2015 |
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 | 2 team members presented preliminary results of the IMAGINE ID Study to families with Smith Magenis Syndrome from France, Netherlands, Denmark, Italy & USA. |
Year(s) Of Engagement Activity | 2015 |
Description | Surrey NHS Developmental Paediatrician Study Day |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Professional Practitioners |
Results and Impact | Following communication with some community paediatricians eager to recruit to IMAGINE ID, we were invited to attend the Surrey NHS Developmental Paediatrician Study Day. Here we presented the project and engaged in valuable discussion with the local community paediatricians. |
Year(s) Of Engagement Activity | 2017 |
Description | The World Congress of Psychiatric Genetics in Orlando |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Samuel Chawner showcased the work of IMAGINE-ID at an international conference to showcase the IMAGINE-ID study. He was awarded early career presentation finalist and a Guarantors of Brain travel grant. |
Year(s) Of Engagement Activity | 2017 |
Description | Transdiagnostic conference presentation, Cambridge University |
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 researchers and clinical psychologists on IMAGINE ID findings |
Year(s) Of Engagement Activity | 2018 |
URL | http://www.mrc-cbu.cam.ac.uk/blog/2018/03/2018-conference-on-transdiagnostic-approaches-to-mental-he... |
Description | UCL Populations & Lifelong Health domain Symposium 2018 |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Local |
Primary Audience | Professional Practitioners |
Results and Impact | Poster presentation about the IMAGINE ID project to institutional colleagues. No known impacts |
Year(s) Of Engagement Activity | 2018 |
Description | UNIQUE family day |
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 | Unique family day June 2016, Glasgow Members of the IMAGINE ID team travelled to Glasgow for UNIQUE's annual participant conference. We engaged with families affected by rare genetic conditions and provided information packs and leaflets to interested families. We had a positive response and many families signed up to the study on the day. |
Year(s) Of Engagement Activity | 2016 |
Description | Unique conference (Bristol) |
Form Of Engagement Activity | Participation in an activity, workshop or similar |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Participants in your research and patient groups |
Results and Impact | 5 people from our team participated in the conference organised by the charity Unique. 60 families who are members of Unique attended the conference. At the start of the conference, our team introduced the IMAGINE ID project to everyone present. We had a stand with a poster and flyers, and we interacted with families interested in the study throughout the day. Our participation in the Unique conference strengthened our collaboration with the charity. Throughout the day, families expressed enthusiasm for the IMAGINE ID project and the online assessment. 26 families signed up to receive further information about the project and registered their interest in taking part in one or more aspects of the study. |
Year(s) Of Engagement Activity | 2014 |
Description | Welsh Paediatric Society meeting |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | Regional |
Primary Audience | Professional Practitioners |
Results and Impact | A presentation was given to the Welsh Paediatric Society by Professor Marianne van den Bree, raising awareness of genetic conditions and IMAGINE ID research. |
Year(s) Of Engagement Activity | 2021 |
Description | World Congress of Psychiatric Genetics |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Share research findings of the IMAGINE-ID study |
Year(s) Of Engagement Activity | 2021 |
Description | presentation to COST Enhancing Psychiatric Genetic Counselling, Testing, and Training in Europe (EnGagE) consortium |
Form Of Engagement Activity | A talk or presentation |
Part Of Official Scheme? | No |
Geographic Reach | International |
Primary Audience | Professional Practitioners |
Results and Impact | Professor Marianne van den Bree gave a presentation to COST Enhancing Psychiatric Genetic Counselling, Testing, and Training in Europe (EnGagE) consortium on rare genetic conditions and the research carried out in the IMAGINE ID project. |
Year(s) Of Engagement Activity | 2021 |