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European Autism GEnomics Registry (EAGER): protocol for a multicentre cohort study and registry.
Bloomfield, Madeleine; Lautarescu, Alexandra; Heraty, Síofra; Douglas, Sarah; Violland, Pierre; Plas, Roderik; Ghosh, Anjuli; Van den Bosch, Katrien; Eaton, Eliza; Absoud, Michael; Battini, Roberta; Blázquez Hinojosa, Ana; Bolshakova, Nadia; Bölte, Sven; Bonanni, Paolo; Borg, Jacqueline; Calderoni, Sara; Calvo Escalona, Rosa; Castelo-Branco, Miguel; Castro-Fornieles, Josefina; Caro, Pilar; Cliquet, Freddy; Danieli, Alberto; Delorme, Richard; Elia, Maurizio; Hempel, Maja; Leblond, Claire S; Madeira, Nuno; McAlonan, Grainne; Milone, Roberta; Molloy, Ciara J; Mouga, Susana; Montiel, Virginia; Pina Rodrigues, Ana; Schaaf, Christian P; Serrano, Mercedes; Tammimies, Kristiina; Tye, Charlotte; Vigevano, Federico; Oliveira, Guiomar; Mazzone, Beatrice; O'Neill, Cara; Pender, Julie; Romero, Verena; Tillmann, Julian; Oakley, Bethany; Murphy, Declan G M; Gallagher, Louise; Bourgeron, Thomas; Chatham, Christopher.
Afiliação
  • Bloomfield M; Department of Psychology, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.
  • Lautarescu A; Department of Psychology, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK alexandra.lautarescu@kcl.ac.uk.
  • Heraty S; Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology, & Neuroscience, King's College London, London, UK.
  • Douglas S; Department of Psychological Sciences, Birkbeck University of London, London, UK.
  • Violland P; AIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK.
  • Plas R; AIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK.
  • Ghosh A; AIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK.
  • Van den Bosch K; AIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK.
  • Eaton E; AIMS-2-TRIALS A-Reps, Cambridge University, Cambridge, UK.
  • Absoud M; Autism Research Centre, Cambridge University, Cambridge, UK.
  • Battini R; Department of Children's Neurosciences, Evelina London Children's Hospital, Guy's and St Thomas' Hospitals NHS Trust, London, UK.
  • Blázquez Hinojosa A; Department of Women and Children's Health, Faculty of Life Sciences and Medicine, School of Life Course Sciences, King's College London, London, UK.
  • Bolshakova N; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Bölte S; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Bonanni P; Department of Child and Adolescent Psychiatry and Psychology, Institute of Neurosciences, Hospital Clinic Universitari Barcelona, Barcelona, Spain.
  • Borg J; Department of Psychiatry, School of Medicine, Trinity College Dublin, Dublin, Ireland.
  • Calderoni S; Center of Neurodevelopmental Disorders (KIND), Department of Women's and Children's Health, Centre for Psychiatry Research, Karolinska Institutet, Stockholm, Sweden.
  • Calvo Escalona R; Child and Adolescent Psychiatry, Stockholm Health Care Services, Stockholm, Sweden.
  • Castelo-Branco M; Curtin Autism Research Group, Curtin School of Allied Health, Curtin University, Perth, Western Australia, Australia.
  • Castro-Fornieles J; Epilepsy Unit, Scientific Institute IRCCS E. Medea Conegliano, Treviso, Italy.
  • Caro P; Centre for Psychiatry Research and Centre for Cognitive and Computational Neuropsychiatry (CCNP), Department of Clinical Neuroscience, Karolinska Institutet & Stockholm Health Care Services, Stockholm, Sweden.
  • Cliquet F; Department of Neuropsychiatry, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden.
  • Danieli A; Department of Psychiatry and Neurochemistry, Institute of Neuroscience and Physiology, Sahlgrenska Academy at The University of Gothenburg, Gothenburg, Sweden.
  • Delorme R; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Elia M; Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Hempel M; Department of Child and Adolescent Psychiatry and Psychology, Institute of Neurosciences, Hospital Clinic Universitari Barcelona, Barcelona, Spain.
  • Leblond CS; Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.
  • Madeira N; Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.
  • McAlonan G; Department of Medicine, Institute of Neuroscience, University of Barcelona, Barcelona, Spain.
  • Milone R; Institute of Physiology, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
  • Molloy CJ; Coimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Institute of Nuclear Sciences Applied to Health (ICNAS), University of Coimbra, Coimbra, Portugal.
  • Mouga S; Department of Child and Adolescent Psychiatry and Psychology, Institute of Neurosciences, Hospital Clinic Universitari Barcelona, Barcelona, Spain.
  • Montiel V; Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain.
  • Pina Rodrigues A; Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM), Madrid, Spain.
  • Schaaf CP; Department of Medicine, Institute of Neuroscience, University of Barcelona, Barcelona, Spain.
  • Serrano M; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
  • Tammimies K; Génétique Humaine et Fonctions Cognitives, UMR3571 CNRS, Institut Pasteur, Paris, France.
  • Tye C; Epilepsy Unit, Scientific Institute IRCCS E. Medea Conegliano, Treviso, Italy.
  • Vigevano F; Child and Adolescent Psychiatry Department, Robert Debre Hospital, APHP, Paris, France.
  • Oliveira G; Unit of Neurology and Clinical Neurophysiopathology, Oasi Research Institute-IRCCS, Troina, Italy.
  • Mazzone B; Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
  • O'Neill C; Génétique Humaine et Fonctions Cognitives, UMR3571 CNRS, Institut Pasteur, Paris, France.
  • Pender J; Coimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Institute of Nuclear Sciences Applied to Health (ICNAS), University of Coimbra, Coimbra, Portugal.
  • Romero V; Psychiatry Department, Centro Hospitalar e Universitário de Coimbra EPE, Coimbra, Portugal.
  • Tillmann J; Institute of Psychological Medicine, Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
  • Oakley B; Department of Forensic and Neurodevelopmental Sciences, Institute of Psychiatry, Psychology, & Neuroscience, King's College London, London, UK.
  • Murphy DGM; Behavioural and Developmental Clinical Academic Group, South London and Maudsley NHS Foundation Trust, London, UK.
  • Gallagher L; Department of Developmental Neuroscience, IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Bourgeron T; Department of Psychiatry, School of Medicine, Trinity College Dublin, Dublin, Ireland.
  • Chatham C; Coimbra Institute for Biomedical Imaging and Translational Research (CIBIT), Institute of Nuclear Sciences Applied to Health (ICNAS), University of Coimbra, Coimbra, Portugal.
BMJ Open ; 14(6): e080746, 2024 Jun 04.
Article em En | MEDLINE | ID: mdl-38834317
ABSTRACT

INTRODUCTION:

Autism is a common neurodevelopmental condition with a complex genetic aetiology that includes contributions from monogenic and polygenic factors. Many autistic people have unmet healthcare needs that could be served by genomics-informed research and clinical trials. The primary aim of the European Autism GEnomics Registry (EAGER) is to establish a registry of participants with a diagnosis of autism or an associated rare genetic condition who have undergone whole-genome sequencing. The registry can facilitate recruitment for future clinical trials and research studies, based on genetic, clinical and phenotypic profiles, as well as participant preferences. The secondary aim of EAGER is to investigate the association between mental and physical health characteristics and participants' genetic profiles. METHODS AND

ANALYSIS:

EAGER is a European multisite cohort study and registry and is part of the AIMS-2-TRIALS consortium. EAGER was developed with input from the AIMS-2-TRIALS Autism Representatives and representatives from the rare genetic conditions community. 1500 participants with a diagnosis of autism or an associated rare genetic condition will be recruited at 13 sites across 8 countries. Participants will be given a blood or saliva sample for whole-genome sequencing and answer a series of online questionnaires. Participants may also consent to the study to access pre-existing clinical data. Participants will be added to the EAGER registry and data will be shared externally through established AIMS-2-TRIALS mechanisms. ETHICS AND DISSEMINATION To date, EAGER has received full ethical approval for 11 out of the 13 sites in the UK (REC 23/SC/0022), Germany (S-375/2023), Portugal (CE-085/2023), Spain (HCB/2023/0038, PIC-164-22), Sweden (Dnr 2023-06737-01), Ireland (230907) and Italy (CET_62/2023, CEL-IRCCS OASI/24-01-2024/EM01, EM 2024-13/1032 EAGER). Findings will be disseminated via scientific publications and conferences but also beyond to participants and the wider community (eg, the AIMS-2-TRIALS website, stakeholder meetings, newsletters).
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno Autístico / Sistema de Registros / Genômica / Sequenciamento Completo do Genoma Limite: Child / Humans / Male País/Região como assunto: Europa Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtorno Autístico / Sistema de Registros / Genômica / Sequenciamento Completo do Genoma Limite: Child / Humans / Male País/Região como assunto: Europa Idioma: En Ano de publicação: 2024 Tipo de documento: Article