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 2013, there were 1.1 million people with intellectual disabilities (ID) in England; 224,930 were children of school age. Although the cause of such disability can be events such as extreme prematurity 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 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 10-15% the test reveals a CNV that is probably the cause of ID. Up to 45,000 people each year have these tests. Consequently, there is an enormous wealth of information about CNV held within UK RGC.

Knowing that a particular CNV may cause ID is valuable, but ID is commonly associated with severe behavioural and emotional problems too. In adult life, many individuals with ID go on to have more serious mental illness, such as schizophrenia. We do not currently understand why these problems develop 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, incorporating a wide range of rare CNV, linked to detailed information about the genetic anomaly's impact on adjustment in childhood and adulthood. We have spent the past year testing the feasibility of our MRC-funded research strategy, and have achieved all our objectives. We are now embarking on a further 3.5 year programme of research to build on the infrastructure we have created. Our IMAGINE legacy resource will be accessible to clinicians managing people with ID, not only in the UK but also around the world, and its establishment will benefit people with ID and their families throughout the lifespan.

In one workstream, we are drawing on the opportunity offered by the NHS-based resource of CNV reports. We will focus on behavioural adjustment in childhood, and aim to recruit around 5,000 families nationally. We have shown that it is possible to obtain parent reports about behaviour and abilities of children online, or by telephone, using well-tested measures of behavioural adjustment, social circumstances and medical history. Families are enthusiastic to tell us about their children and they value the reports we send them, following completion of our online assessments. These provide a useful summary for schools and clinicians alike.

In the other workstream, the focus is on a few relatively common CNV that are associated with a particularly high risk of poor mental health in adulthood. We select children with the designated CNVs from the national study, study their abilities and their adjustment by home-based assessments,. We will assess the severity of emotional and behavioural problems, and the importance of environmental risks, such as parental mental health, ethnicity or poverty. We will also recruit adults with ID who possess the same relatively common CNVs, to study long-term outcomes. 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 aims to 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 array CGH within NHS UK genetics services. From data mining and prospective recruitment, we will focus on clinically significant CNV (and - potentially - on SNV too). We will be conducting internet-based population phenotyping on up to 5000 children by June 2019. We take advantage of existing NHS resources and validated, inexpensive and appropriate methodologies for on-line phenotyping [84% of UK families have internet access at home]. The study offers remarkable value for money. It comprises two primary workstreams (WS1 & WS2), which are closely interconnected and complementary.

First, a national 'extensive' survey of children with ID who possess CNV abnormalities reported as clinically significant from aCGH, based on data mining and prospective recruitment from UK Regional Genetics Centres (RGC). WS1 focuses on behavioural adjustment in children of school age. Nearly all assessments are on-line, or by telephone, using standardized measures of behavioural adjustment, social circumstances and medical history. Recruitment commenced in 2015.

WS2 is conducting an 'intensive' phenotyping of individuals with CNV-associated ID, focusing on a small number of genetic anomalies previously reported to be associated with high risk of adverse mental health outcome and poor adaptive functioning [especially deletions at 1q21.1, 15q11.2, 15q13.3, 16p11.2]. Children with the selected CNVs are sourced from the national phenotypic study. Adults with ID carrying the same CNVs, also sourced from UK NHS RGC, will be recruited to study long-term outcomes. Dedicated research teams test participants in their homes.

Over the past year, we have completed a feasibility study that has achieved all our objectives. We have shown that online testing yields valid data on adjustment and that it is acceptable to families.

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 are working closely with stakeholders throughout this programme, including the charity UNIQUE and other parent-support organizations.
Clinicians in the NHS increasingly request specialist genetic investigations for children with ID. Usually, the results do not translate into specific recommendations for management or prognostic statements relating to behavioural adjustment, although families would welcome such knowledge. 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 associated with ID are often ascribed to inappropriate parenting practices. Recognizing common disorder-specific patterns is the first step to reassuring parents, and educating clinicians/social support staff. Impact will reduce self-blaming and stress, with resultant improved quality of life for affected families. Impact timescale < 5years.
Impact of child behaviour can be reliably and easily measured across time, and may independently predict future symptoms and psychiatric disorders, including the interactive process by which disturbed emotions and behaviour can undermine family/individual quality of life. New opportunities for intervention could ensue, thus enhancing 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, such pathways overlap with autism, schizophrenia, and epilepsy. We lack a lifespan perspective on risk related to genotype. Our accelerated longitudinal cohort study, linking genotype 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 are fostering the academic skills of junior staff (NIHR-funded Academic Clinical Fellows) that are on a career track to become academic child psychiatrists. Impact timescale <5 years.
International collaborations: The IMAGINE team has already been invited to participate in an international discussion group in Washington, to discuss harmonization of phenotyping protocols. This comprehensive phenotyping network would serve as the framework for a multi-center clinical trials network as candidate drugs come available. Impact timescale:<5 years

Publications

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Baker K (2021) Childhood intellectual disability and parents' mental health: integrating social, psychological and genetic influences. in The British journal of psychiatry : the journal of mental science

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Bass N (2018) Genetic testing in children and adolescents with intellectual disability. in Current opinion in psychiatry

 
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 Autism Genetics Symposium 
Form Of Engagement Activity A talk or presentation
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Professional Practitioners
Results and Impact 2019 (March) Prof Lucy Raymond presented at the Cambridge Autism Genetics Symposium
Year(s) Of Engagement Activity 2019
 
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 Imagine ID Family Day 2019 
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 As a thank you to our families for taking part in the project and to provide a rare opportunity for families to meet each other and share their experiences we are organising a special Family Fun day to take place on Sunday 7th July 2019. This day has been organised in partnership with charity, UNIQUE, and will include arts and craft workshops led by Avery and children's books illustrator, Marta Altes. There will also be some science-led activities, a reading corner, puzzles, soft play, a silent disco and specific sensory needs play equipment. It will also be an opportunity for parents to speak to the researchers, find out more about the project and disseminate the findings to a wider group of families. Places have been reserved for over 200 people to attend the day, with many more on the waiting list.
Year(s) Of Engagement Activity 2019
 
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 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 PPI focus group 
Form Of Engagement Activity Participation in an activity, workshop or similar
Part Of Official Scheme? No
Geographic Reach Regional
Primary Audience Study participants or study members
Results and Impact A focus group was held in London in November 2018 to bring together IMAGINE-ID researchers and families. The focus group aimed to facilitate the opportunity for the IMAGINE-ID team to understand a parent's experience of IMAGINE-ID, as well as to get an idea of their thoughts and ideas for the future of our research. We asked parents to explain why they had wanted to get involved with the study, how they found this experience, their feedback on the personalised report they received, and whether they would find it useful to be involved in IMAGINE-ID in the future. We received lots of feedback, with many families commenting on why they were interested in our research, how useful the report had been and how important it is to follow-up with their children over time.

'I think for us it's about education, about learning, it's about also him understanding his condition.'

'What you tend to get is a diagnosis [] that's great, but what does it actually mean?'

'And I think one of the things that first appealed to me with the project, was having a holistic report about [child's name], because we see so many different professionals that all deal with one little bit of him or one aspect of him, but we've never really had a holistic view from a professional source, so that was really appealing.'

'We are passionate parents who see the benefit, not just to themselves but also to other families who may be on a similar journey to them, to be involved in research like IMAGINE-ID.'

Parents understood the need for research like IMAGINE-ID and for its continuing research, so that we can better our understanding of how their child's mental and physical health changes over time.

'We're interested in sharing information and the more we find out the more we can help other people, and other people can help us.'

'There aren't that many people that we know, apart from us today, that have "been there before us", but there'll be many coming after us, so anything we can share, discuss and give assistance, I think why not it's for everyone's benefit'

In addition to the focus group, we encouraged families to give feedback on the study if they were not available to join the focus group. We received lots of feedback again, with lots of encouragement about the importance of IMAGINE-2 and their keenness to be involved.

'Going forward with it, the more we can learn [] the better informed as to why one child has one condition and another child is different or why it's so varied. That's why I think the study [IMAGINE-ID is] doing is so important.'

'I think [IMAGINE-2 is] relevant because the situation changes, diagnoses change'

'If the study does continue I would very interested. Five years on will be very interesting to see where the 5/6 year olds are, as they will then be 10/11.'

'I have plenty of time to be able to answer questions in any follow up studies, and would be happy to help.'/ 'I am happy to spare time completing further questionnaires.' / 'I would be able to spend a few hours answering questions in the follow up.'
Year(s) Of Engagement Activity 2018
 
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 Conversation (interview) 
Form Of Engagement Activity A press release, press conference or response to a media enquiry/interview
Part Of Official Scheme? No
Geographic Reach National
Primary Audience Media (as a channel to the public)
Results and Impact Professor van den Bree was also interviewed in February 2019 about 16p11.2 research for The Conversation (https://www.spectrumnews.org/news/deletion-duplication-chromosome-16-segment-may-confer-autism-risk/).
Year(s) Of Engagement Activity 2019
URL https://www.spectrumnews.org/news/deletion-duplication-chromosome-16-segment-may-confer-autism-risk/
 
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