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Dr Samuel Chawner

Dr Samuel Chawner

Wellcome Trust ISSF Fellow

Overview

I research the impact of genomics on child development, neurodevelopmental conditions, and mental health.

A class of rare genomic variation known as copy number variants (CNVs, deletions or duplications of a chromosomal region), have been implicated in neurodevelopmental and psychiatric conditions. Although individually rare, neuropsychiatric CNVs are collectively common, estimated to be present in 10-15% of individuals with neurodevelopmental conditions, and 1 in 200 individuals in the general population.

My work aims to characterise the clinical profiles of neuropsychiatric CNVs and understand the mechanisms by which psychiatric conditions develop in this at-risk group.

This work has important clinical implications for the increasing number of patients receiving genetic diagnoses in clinical settings. It also has wider implications for identifying early signs of psychiatric conditions in the general population.

Public and stakeholder engagement is a key part of my work and I have worked with the media, charities, artists, clinicians, and policymakers to raise awareness of research into genomic conditions.

Biography

I am a Wellcome Trust ISSF Fellow working on a project called "Using genomics to understand the early developmental origins of psychiatric conditions". I work across Cardiff University Centre for Human Developmental Science, and the Medical Research Council Centre for Neuropsychiatric Genetics and Genomics.

My previous postdoctoral work, as part of the IMAGINE-ID and G2MH studies, investigated genotype and phenotype relationships across a range of neurodevelopmental risk genomic conditions. I continue to contribute to a range of national and international research programmes of individuals with rare chromosomal Copy Number Variants (CNVs) associated with neuropsychiatric risk.  

In 2016 I completed a PhD in Medicine at the Medical Research Council Centre for Neuropsychiatric Genetics and Genomics. The title of my thesis was "Longitudinal follow-up of 22q11.2 Deletion Syndrome: a study of individuals at high risk of schizophrenia".

Prior to my PhD, I obtained a First Class BA honours in Psychology (Natural Sciences Tripos) at Girton College, Univeristy of Cambridge.

Honours and awards

  • MQ conference travel award (2018)
  • Oral Presentation Finalist for the World Congress of Psychiatric Genetics (2017)
  • Medical Research Council Centre for Neuropsychiatric Genetics and Genomics Early Researcher Scheme conference travel award (2017)
  • Guarantors of Brain conference travel award (2017)
  • Public Engagement Champion, Medical Research Council Centre for Neuropsychiatric Genetics and Genomics (2016)
  • Max Appeal travel award for 22q11.2 Deletion Syndrome Conference (2016)
  • Neuroscience Mental Health Research Institute UK travel award (2016)
  • Poster Presentation Finalist for the World Congress of Psychiatric Genetics (2014)
  • The Marion Bidder Prize and the John Bowyer Buckley Scholarship, awarded for performance in final year of university (2011, Girton College, Cambridge University)

Professional memberships

  • Genes to Mental Health Consortium member
  • IMAGINE-ID (Intellectual Disability and Mental Health: Assessing Genomic Impact on Neurodevelopment) study Co-Investigator
  • 22q11.2 International Brain & Behaviour Consortium member
  • MINDDS (Maximising Impact of research in NeuroDevelopmental DisorderS) consortium Co-Investigator
  • Welsh Assembly Cross Party Group on Rare, Genetic and Undiagnosed Conditions
  • 22q11.2 Society Founding Member

Academic positions

  • 2020 - present: Wellcome Trust ISSF Fellow
  • 2019 - 2020: Research Associate, Genes to Mental Health Consortium
  • 2015 - 2019: Research Associate, IMAGINE-ID study

Speaking engagements

  • Cerebra Charity Steering Group, Cardiff Univeristy, (2020)
  • Wales Autism Research Centre, Cardiff Univeristy, (2020)
  • Genes to Mental Health Consortium, NIMH, (2020)
  • Cross Party Group on rare, genetic and undiagnosed conditions, Welsh Assembly Senedd, Cardiff, (2019)
  • Developing Brain seminar series, St Thomas’ Hospital, Kings College London, (2019)
  • Cerebra Centre for Neurodevelopmental Disorders seminar series, Birmingham University, (2019)
  • Advances in Basic and Clinical Aspects of Neurodevelopmental Disorders confernece, Helsinki University, (2019)
  • Neurodevelopmental Disorders Annual Seminar, University of Surrey, (2019)
  • Transdiagnostic conference, Cambridge University, (2018)
  • Findacure rare diseases event, Life Sciences Hub Wales, (2017)
  • 17th Seattle Club, Durham Univeristy, (2017)
  • World Congress of Psychiatric Genetics, Orlando, (2017)
  • 22q11 Europe conference, Dublin, (2017)
  • 22q11.2 Internationa Brain & Behavior Consortium, Geneva, (2017)
  • Neurodevelopmental Disorders Annual Seminar, Kingston University, London, (2017)
  • The 10th Biennial International 22q11.2 DS meeting, Sirmione, (2016)
  • Royal College of Psychiatrists International Congress, London, (2016)
  • The 9th Biennial International 22q11.2 DS meeting, Mallorca, (2014)

Committees and reviewing

  • Reviewer for the American Journal of Psychiatry, Molecular Psychiatry, Journal of Abnormal Psychology, Child Neuropsychology, Journal of Consulting and Clinical Psychology, Psychological Medicine, Research in Developmental Disabilities and BMC Case Reports
  • Chair of Early Career Researcher policy focus group at Academy of Medical Sciences “The developing brain in health and disease” Workshop
  • Grant reviewer for MQ Data Science Award
  • Cardiff University Biobank review committee member

Publications

2020

2019

2018

2017

2016

2015

Research Overview

My research focuses on children and adolescents with genetic conditions assocated with neurodevelopmental and psychiatric conditions. I focus on a class of genetic conditions known as copy number variants (CNV, a deletion or duplication of a chromosomal region). Several CNVs have been implicated in intellectual disability, autism, ADHD and schizophrenia. However the pleiotropic effects of psychiatric CNVs across childhood and adolescence are not fully known. My work aims to characterise these genomic conditions beyond categorical diagnoses using a range of dimensional, developmental and cognitive measures. My work contributes to range of national and international collaborations and consortiums on rare genomic variants and psychiatry. 

Genomics and early child development

In my Wellcome Trust ISSF3 Fellowship I am combining psychiatric genetics and developmental psychology to investigate the early developmental orgins of psychiatric risk. I will investigate the early behavioural profile of young children with psychiatric risk genetic conditions, by assessing key aspects of early development including language, communication, social development, motor control, and a range of brain functions including understanding emotions, planning ability, memory and sensory abilities. This work has the potential to improve the understanding of the causes and early risk signs of mental health problems in children with genetic conditions. 

Genotype-phenotype relationships in autism

This project investigated the extent to whether different genetic conditions lead to different subtypes of autism. This was an exciting project that combined data on 16p11.2 Deletion, 16p11.2 Duplication, 22q11.2 Deletion, and 22q11.2 Duplication syndromes from 8 international research sites across Europe and the US. This work is currently in press but can be read on MedRxiv.

Intellectual Disability and Mental Health: Assessing Genomic Impact on Neurodevelopment (IMAGINE-ID) study

The IMAGINE-ID study involves a collaboration between Cardiff and Cambridge University and University College London. The project aims to increase understanding of the links between intellectual disability and chromosomal disorders, with the ultimate goal of improving insights into the clinical profiles of chromosomal disorders in order to inform prognosis and management. I worked as a Research Associate and coordinated the deep phenotyping component of the IMAGINE-ID study which I  published in Lancet Psychiatry (Chawner et al,  2019). Other outputs of the IMAGINE-ID study can be found here, I am Co-Investigator on a recently funded longitudinal follow-up of the IMAGINE-ID cohort to investigate the development of mental health across adolescence. 

Maximising Impact of research in NeuroDevelopmental DisorderS (MINDDS)

The MINDDS project brings together a pan-European network of clinical scientists, preclinical researchers and patient representatives to advance studies of individuals with neurodevelopmental conditions caused by CNVs and to ultimately improve care for these patients. I am a Co-Investigator of the network, and led a project scoping out the CNV landcape in Europe (Chawner & Mihaljevic et al, 2020).I was also involved in running a training school in clinical phenotyping for clinicians an researchers in Skopje, Macedonia.

Genes to Mental Health consortium

I am am member of the Genes to Mental Health Consortium, which is structured around four projects that will study the behavioral and cognitive symptoms in individuals with rare genetic variants that confer high risk for neurodevelopmental psychiatric conditions. Participants will be identified in hospital clinics as well as in the general population across three continents.

Longitudinal development of 22q11.2 Deletion Syndrome

As part of my PhD I conducted a longitudinal study of adolescents with 22q11.2 Deletion Syndrome, who are genetically vulnerable to developing psychosis.  I investigated how cognition changed over this vulnerable period (Chawner et al, 2017) and identified predictors of psychotic experiences emergence in 22q11.2 Deletion Syndrome (Chawner et al, 2019). My PhD data contributed to the 22q11.2 International Brain & Behaviour Consortium, which has led to a range of collaborative papers.

Funding and Grants

  • Chawner, S.J.R.A. Using genomics to understand the early developmental origins of psychiatric conditions. Wellcome Trust ISSF3 Fellowship Award (2020).
  • Skuse, D., Hall, J., Van den Bree, M.B.M., Chawner, S.J.R.A., Owen, M.J., Holman, P., Raymond, F.L., Mandy, W., Denaxas, S. IMAGINE-2: Stratifying Genomic Causes of Intellectual Disability by Mental Health Outcomes in Childhood and Adolescence. Medical Research Council Programme Grant (2020).
  • Chawner, S.J.R.A., Hopkins, C., Phenotypica. Embracing complexity - humanising mental health and genetics research through creative multi-stakeholder engagement. Wellcome Trust ISSF3 Public Engagement Proof-of-Concept Award (2020).
  • Chawner, S.J.R.A. The sleep profile of children with autism associated with a genetic condition. Cardiff Undergraduate Research Opportunities Programme, summer studentship scheme (postponed due to COVID-19).
  • van den Bree, M.B.M., Raymond, F.L., Escott-Price, V., Chawner, S.J.R.A. Pilot study to develop an instrument to capture broad-ranging neurodevelopmental problems in children with a genetic diagnosis of intellectual disability. Baily Thomas Charitable Fund (2019).
  • Chawner, S.J.R.A. The early development of toddlers at genomic risk of schizophrenia. Cardiff Undergraduate Research Opportunities Programme, summer studentship scheme (2019).
  • Chawner, S.J.R.A. The impact of genomics on childhood development. Cardiff Undergraduate Research Opportunities Programme, summer studentship scheme, PI, (2018).
  • Chawner, S.J.R.A., Hay, D., Erichsen, J., Owen, M.J., Hall, J., van den Bree, M.B.M. The developmental origins of psychiatric disorder: an assessment of early childhood in 22q11.2. Deletion Syndrome. Neuroscience Mental Health Research Institute, seedcorn award, (2017).
  • Chawner, S.J.R.A., Hay, D., Erichsen, J., Owen, M.J., van den Bree, M.B.M. The developmental origins of psychiatric disorder: an assessment of early childhood in 22q11.2. Deletion Syndrome. Medical Research Council Neuropsychiatric Genetics and Genomics, seedcorn award, (2017).
  • European Cooperation in Science & Technology, networking grant, MINDDS (Maximising Impact of research in NeuroDevelopmental DisorderS), Co-Investigator (2017).
  • Chawner, S.J.R.A. The Development of Children at High Genetic Risk of Schizophrenia. Cardiff University Research Society, summer studentship scheme (2017).
  • Chawner, S.J.R.A. The development of children at genomic risk of psychiatric disorder. Cardiff Undergraduate Research Opportunities Programme, summer studentship scheme (2016).
  • Chawner, S.J.R.A. The development of children at genomic risk of psychiatric disorder. Cardiff University Research Society, summer studentship scheme (2016).
  • Chawner, S.J.R.A. Medical Research Council, supplement award, statistical training in longitudinal methods (2014).
  • Chawner, S.J.R.A. Medical Research Council PhD Studentship (2011).