Dr Samuel Chawner
(he/him)
BA (Hons), PhD, FHEA
Medical Research Foundation Fellow, Division of Psychological Medicine and Clinical Neurosciences
- Available for postgraduate supervision
Overview
I research the impact of genomics on eating disorders, child development, and mental health.
A class of rare genomic variants known as copy number variants (CNVs, deletions or duplications of a chromosomal region), have been implicated in neurodevelopmental and psychiatric conditions, including eating disorders. 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 individuals at high genetic vulnerability.
This work has important clinical implications for the increasing number of patients receiving genetic diagnoses within health services. 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 regularly engage with the media, charities, artists, clinicians, and policymakers to raise awareness of research into genomic conditions and mental health.
Publication
2024
- Gur, R. C. et al. 2024. Neurocognitive profiles of 22q11.2 and 16p11.2 deletions and duplications. Molecular Psychiatry (10.1038/s41380-024-02661-y)
- Hall, J. H. et al. 2024. Irritability in young people with copy number variants associated with neurodevelopmental disorders (ND-CNVs). Translational Psychiatry 14(1), article number: 259. (10.1038/s41398-024-02975-z)
- Lee, I. O. et al. 2024. The inequity of education, health and care plan provision for children and young people with intellectual and developmental disabilities. Journal of Intellectual Disability Research (10.1111/jir.13139)
- Papini, N. M., Bulik, C. M., Chawner, S. J. R. A. and Micali, N. 2024. Prevalence and recurrence of pica behaviors in early childhood within the ALSPAC birth cohort. International Journal of Eating Disorders 57(2), pp. 400-409. (10.1002/eat.24111)
- Doherty, J. L. et al. 2024. Atypical cortical networks in children at high-genetic risk of psychiatric and eurodevelopmental disorders. Neuropsychopharmacology 49, pp. 368-376. (10.1038/s41386-023-01628-x)
2023
- Chawner, S. J. et al. 2023. Neurodevelopmental dimensional assessment of young children at high genomic risk of neuropsychiatric conditions. JCPP Advances 3(2), article number: e12162. (10.1002/jcv2.12162)
- Niarchou, M. et al. 2023. Psychopathology in mothers of children with pathogenic copy number variants. Journal of Medical Genetics 60, pp. 706-711. (10.1136/jmg-2022-108752)
- Donnelly, N. et al. 2023. Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach. Molecular Autism 14(1), article number: 19. (10.1186/s13229-023-00549-2)
- Lynham, A. J. et al. 2023. DRAGON-Data: A platform and protocol for integrating genomic and phenotypic data across large psychiatric cohorts. BJPsych Open 9(2), article number: e32. (10.1192/bjo.2022.636)
- Chawner, S. J. R. A., Evans, A., IMAGINE-ID consortium, ., Williams, N., Owen, M. J., Hall, J. and van den Bree, M. B. M. 2023. Sleep disturbance as a transdiagnostic marker of psychiatric risk in children with neurodevelopmental risk genetic conditions. Translational Psychiatry 13, article number: 7. (10.1038/s41398-022-02296-z)
2022
- Chawner, S. and Owen, M. 2022. Autism: a model of neurodevelopmental diversity informed by genomics. Frontiers in Psychiatry 13, article number: 981691. (10.3389/fpsyt.2022.981691)
- Wolstencroft, J. et al. 2022. Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study. The Lancet Psychiatry 9(9), pp. 715-724. (10.1016/S2215-0366(22)00207-3)
- Jacquemont, S. et al. 2022. Genes To Mental Health (G2MH): A framework to map the combined effects of rare and common variants on dimensions of cognition and psychopathology. American Journal of Psychiatry 179(3), pp. 189-203. (10.1176/appi.ajp.2021.21040432)
- Wolstencroft, J. et al. 2022. Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE - The UK National Cohort Study. [Online]. papers.SSRN.com: Elsevier. (10.2139/ssrn.4028542) Available at: http://dx.doi.org/10.2139/ssrn.4028542
2021
- Chawner, S. J. R. A., Watson, C. J. and Owen, M. J. 2021. Clinical evaluation of patients with a neuropsychiatric risk copy number variant. Current Opinion in Genetics and Development 68, pp. 26-34. (10.1016/j.gde.2020.12.012)
- Fiksinski, A. M., Schneider, M., Zinkstok, J., Baribeau, D., Chawner, S. J. R. A. and Vorstman, J. A. S. 2021. Neurodevelopmental trajectories and psychiatric morbidity: lessons learned from the 22q11.2 deletion syndrome. Current Psychiatry Reports 23, article number: 13. (10.1007/s11920-021-01225-z)
- Linden, S. C. et al. 2021. The psychiatric phenotypes of 1q21 distal deletion and duplication. Translational Psychiatry 11, article number: 105. (10.1038/s41398-021-01226-9)
- Chawner, S. et al. 2021. A genetics-first approach to dissecting the heterogeneity of autism: phenotypic comparison of autism risk copy number variants. American Journal of Psychiatry 178(1), pp. 77-86. (10.1176/appi.ajp.2020.20010015)
2020
- Davies, R. et al. 2020. Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 Deletion Syndrome. Nature Medicine 26, pp. 1912-1918. (10.1038/s41591-020-1103-1)
- Chawner, S. J. R. A. et al. 2020. Pan-European landscape of research into neurodevelopmental copy number variants: a survey by the MINDDS consortium. European Journal of Medical Genetics 63(12), article number: 104093. (10.1016/j.ejmg.2020.104093)
- Drakulic, D. et al. 2020. Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD. Molecular Autism 11(1), article number: 42. (10.1186/s13229-020-00343-4)
- Morrison, S. et al. 2020. Cognitive deficits in childhood, adolescence and adulthood in 22q11.2 deletion syndrome and association with psychopathology. Translational Psychiatry 10, article number: 53. (10.1038/s41398-020-0736-7)
2019
- Chawner, S. J. R. A. et al. 2019. Genotype–phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study. Lancet Psychiatry 6(6), pp. 493 - 505. (10.1016/S2215-0366(19)30123-3)
- Chawner, S., Owen, M. J., Holmans, P., Raymond, L., Skuse, D., Hall, J. and van den Bree, M. 2019. Genotype-phenotype relationships in children with copy number variants associated with high neuropsychiatric risk: Findings from the Intellectual Disability & Mental Health: Assessing the Genomic Impact on Neurodevelopment (IMAGINE-ID) study.. [Online]. BioRxiv. (10.1101/535708) Available at: https://doi.org/10.1101/535708
- Niarchou, M. et al. 2019. Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome. Schizophrenia Research 204, pp. 320-325. (10.1016/j.schres.2018.07.044)
- Niarchou, M. et al. 2019. Psychiatric disorders in children with 16p11.2 deletion and duplication. Translational Psychiatry (10.1038/s41398-018-0339-8)
2018
- Chawner, S. J., Niarchou, M., Doherty, J. L., Moss, H., Owen, M. J. and Van Den Bree, M. 2018. The emergence of psychotic experiences in the early adolescence of 22q11.2 Deletion Syndrome. Journal of Psychiatric Research 109, pp. 10-17. (10.1016/j.jpsychires.2018.11.002)
- Zhao, Y. et al. 2018. Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects. American Journal of Medical Genetics Part A 176(10), pp. 2172-2181. (10.1002/ajmg.a.40359)
- Guo, T. et al. 2018. Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2. Human Molecular Genetics 27(7), pp. 1150-1163. (10.1093/hmg/ddy028)
- Morrison, S., Chawner, S., van Amelsvoort, T., Swillen, A., Vergaelen, E., Owen, M. and Van Den Bree, M. 2018. Vulnerable periods for cognitive development in individuals at high genomic risk of schizophrenia [Conference Abstract]. Schizophrenia Bulletin 44(suppl), pp. S86. (10.1093/schbul/sby015.214)
2017
- Chawner, S., Doherty, J. L., Moss, H., Niarchou, M., Walters, J., Owen, M. J. and Van Den Bree, M. B. 2017. Childhood cognitive development in 22q11.2 deletion syndrome: case–control study. British Journal of Psychiatry 211(4), pp. 223-230. (10.1192/bjp.bp.116.195651)
2016
- Aas, M. et al. 2016. Summaries of plenary, symposia, and oral sessions at the XXII World Congress of Psychiatric Genetics, Copenhagen, Denmark, 12-16 October 2014 [Conference Material]. Psychiatric Genetics 26(1), pp. 1-47. (10.1097/YPG.0000000000000112)
- D'Angelo, D. et al. 2016. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry 73(1), pp. 20-30. (10.1001/jamapsychiatry.2015.2123)
2015
- Maillard, A. M. et al. 2015. 16p11.2 Locus modulates response to satiety before the onset of obesity. International Journal of Obesity 40(5), pp. 870-876. (10.1038/ijo.2015.247)
- Chawner, S. 2015. Longitudinal follow-up of 22q11.2 Deletion Syndrome: a study of individuals at high risk of schizophrenia. PhD Thesis, Cardiff University.
Articles
- Gur, R. C. et al. 2024. Neurocognitive profiles of 22q11.2 and 16p11.2 deletions and duplications. Molecular Psychiatry (10.1038/s41380-024-02661-y)
- Hall, J. H. et al. 2024. Irritability in young people with copy number variants associated with neurodevelopmental disorders (ND-CNVs). Translational Psychiatry 14(1), article number: 259. (10.1038/s41398-024-02975-z)
- Lee, I. O. et al. 2024. The inequity of education, health and care plan provision for children and young people with intellectual and developmental disabilities. Journal of Intellectual Disability Research (10.1111/jir.13139)
- Papini, N. M., Bulik, C. M., Chawner, S. J. R. A. and Micali, N. 2024. Prevalence and recurrence of pica behaviors in early childhood within the ALSPAC birth cohort. International Journal of Eating Disorders 57(2), pp. 400-409. (10.1002/eat.24111)
- Doherty, J. L. et al. 2024. Atypical cortical networks in children at high-genetic risk of psychiatric and eurodevelopmental disorders. Neuropsychopharmacology 49, pp. 368-376. (10.1038/s41386-023-01628-x)
- Chawner, S. J. et al. 2023. Neurodevelopmental dimensional assessment of young children at high genomic risk of neuropsychiatric conditions. JCPP Advances 3(2), article number: e12162. (10.1002/jcv2.12162)
- Niarchou, M. et al. 2023. Psychopathology in mothers of children with pathogenic copy number variants. Journal of Medical Genetics 60, pp. 706-711. (10.1136/jmg-2022-108752)
- Donnelly, N. et al. 2023. Identifying the neurodevelopmental and psychiatric signatures of genomic disorders associated with intellectual disability: a machine learning approach. Molecular Autism 14(1), article number: 19. (10.1186/s13229-023-00549-2)
- Lynham, A. J. et al. 2023. DRAGON-Data: A platform and protocol for integrating genomic and phenotypic data across large psychiatric cohorts. BJPsych Open 9(2), article number: e32. (10.1192/bjo.2022.636)
- Chawner, S. J. R. A., Evans, A., IMAGINE-ID consortium, ., Williams, N., Owen, M. J., Hall, J. and van den Bree, M. B. M. 2023. Sleep disturbance as a transdiagnostic marker of psychiatric risk in children with neurodevelopmental risk genetic conditions. Translational Psychiatry 13, article number: 7. (10.1038/s41398-022-02296-z)
- Chawner, S. and Owen, M. 2022. Autism: a model of neurodevelopmental diversity informed by genomics. Frontiers in Psychiatry 13, article number: 981691. (10.3389/fpsyt.2022.981691)
- Wolstencroft, J. et al. 2022. Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study. The Lancet Psychiatry 9(9), pp. 715-724. (10.1016/S2215-0366(22)00207-3)
- Jacquemont, S. et al. 2022. Genes To Mental Health (G2MH): A framework to map the combined effects of rare and common variants on dimensions of cognition and psychopathology. American Journal of Psychiatry 179(3), pp. 189-203. (10.1176/appi.ajp.2021.21040432)
- Chawner, S. J. R. A., Watson, C. J. and Owen, M. J. 2021. Clinical evaluation of patients with a neuropsychiatric risk copy number variant. Current Opinion in Genetics and Development 68, pp. 26-34. (10.1016/j.gde.2020.12.012)
- Fiksinski, A. M., Schneider, M., Zinkstok, J., Baribeau, D., Chawner, S. J. R. A. and Vorstman, J. A. S. 2021. Neurodevelopmental trajectories and psychiatric morbidity: lessons learned from the 22q11.2 deletion syndrome. Current Psychiatry Reports 23, article number: 13. (10.1007/s11920-021-01225-z)
- Linden, S. C. et al. 2021. The psychiatric phenotypes of 1q21 distal deletion and duplication. Translational Psychiatry 11, article number: 105. (10.1038/s41398-021-01226-9)
- Chawner, S. et al. 2021. A genetics-first approach to dissecting the heterogeneity of autism: phenotypic comparison of autism risk copy number variants. American Journal of Psychiatry 178(1), pp. 77-86. (10.1176/appi.ajp.2020.20010015)
- Davies, R. et al. 2020. Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 Deletion Syndrome. Nature Medicine 26, pp. 1912-1918. (10.1038/s41591-020-1103-1)
- Chawner, S. J. R. A. et al. 2020. Pan-European landscape of research into neurodevelopmental copy number variants: a survey by the MINDDS consortium. European Journal of Medical Genetics 63(12), article number: 104093. (10.1016/j.ejmg.2020.104093)
- Drakulic, D. et al. 2020. Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD. Molecular Autism 11(1), article number: 42. (10.1186/s13229-020-00343-4)
- Morrison, S. et al. 2020. Cognitive deficits in childhood, adolescence and adulthood in 22q11.2 deletion syndrome and association with psychopathology. Translational Psychiatry 10, article number: 53. (10.1038/s41398-020-0736-7)
- Chawner, S. J. R. A. et al. 2019. Genotype–phenotype associations in children with copy number variants associated with high neuropsychiatric risk in the UK (IMAGINE-ID): a case-control cohort study. Lancet Psychiatry 6(6), pp. 493 - 505. (10.1016/S2215-0366(19)30123-3)
- Niarchou, M. et al. 2019. Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome. Schizophrenia Research 204, pp. 320-325. (10.1016/j.schres.2018.07.044)
- Niarchou, M. et al. 2019. Psychiatric disorders in children with 16p11.2 deletion and duplication. Translational Psychiatry (10.1038/s41398-018-0339-8)
- Chawner, S. J., Niarchou, M., Doherty, J. L., Moss, H., Owen, M. J. and Van Den Bree, M. 2018. The emergence of psychotic experiences in the early adolescence of 22q11.2 Deletion Syndrome. Journal of Psychiatric Research 109, pp. 10-17. (10.1016/j.jpsychires.2018.11.002)
- Zhao, Y. et al. 2018. Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects. American Journal of Medical Genetics Part A 176(10), pp. 2172-2181. (10.1002/ajmg.a.40359)
- Guo, T. et al. 2018. Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2. Human Molecular Genetics 27(7), pp. 1150-1163. (10.1093/hmg/ddy028)
- Morrison, S., Chawner, S., van Amelsvoort, T., Swillen, A., Vergaelen, E., Owen, M. and Van Den Bree, M. 2018. Vulnerable periods for cognitive development in individuals at high genomic risk of schizophrenia [Conference Abstract]. Schizophrenia Bulletin 44(suppl), pp. S86. (10.1093/schbul/sby015.214)
- Chawner, S., Doherty, J. L., Moss, H., Niarchou, M., Walters, J., Owen, M. J. and Van Den Bree, M. B. 2017. Childhood cognitive development in 22q11.2 deletion syndrome: case–control study. British Journal of Psychiatry 211(4), pp. 223-230. (10.1192/bjp.bp.116.195651)
- Aas, M. et al. 2016. Summaries of plenary, symposia, and oral sessions at the XXII World Congress of Psychiatric Genetics, Copenhagen, Denmark, 12-16 October 2014 [Conference Material]. Psychiatric Genetics 26(1), pp. 1-47. (10.1097/YPG.0000000000000112)
- D'Angelo, D. et al. 2016. Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities. JAMA Psychiatry 73(1), pp. 20-30. (10.1001/jamapsychiatry.2015.2123)
- Maillard, A. M. et al. 2015. 16p11.2 Locus modulates response to satiety before the onset of obesity. International Journal of Obesity 40(5), pp. 870-876. (10.1038/ijo.2015.247)
Thesis
- Chawner, S. 2015. Longitudinal follow-up of 22q11.2 Deletion Syndrome: a study of individuals at high risk of schizophrenia. PhD Thesis, Cardiff University.
Websites
- Wolstencroft, J. et al. 2022. Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE - The UK National Cohort Study. [Online]. papers.SSRN.com: Elsevier. (10.2139/ssrn.4028542) Available at: http://dx.doi.org/10.2139/ssrn.4028542
- Chawner, S., Owen, M. J., Holmans, P., Raymond, L., Skuse, D., Hall, J. and van den Bree, M. 2019. Genotype-phenotype relationships in children with copy number variants associated with high neuropsychiatric risk: Findings from the Intellectual Disability & Mental Health: Assessing the Genomic Impact on Neurodevelopment (IMAGINE-ID) study.. [Online]. BioRxiv. (10.1101/535708) Available at: https://doi.org/10.1101/535708
Research
Research Overview
My research investigates the development of children at high genetic risk of neurodevelopmental and psychiatric conditions. My work focuses 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 eating disorders, neurodevelopmental conditions and schizophrenia. However, the pleiotropic effects of psychiatric CNVs across childhood and adolescence are not fully known. My work aims to characterise the developmental pathways from genomic risk to psychiatric outcomes, enabling the identification of early signs of risk and potential targets for early intervention. My work contributes to range of national and international collaborations and consortia focused on rare genomic variants and psychiatry.
Development of eating disorders in children at high genomic risk
In my Medical Research Foundation Fellowship, I focus on two rare genetic conditions that are linked with extreme differences in body weight and abnormal eating behaviour. These genetic conditions are caused by DNA being deleted or duplicated on one of the chromosomes, known as ‘16p11.2 deletion syndrome’ and ‘16p11.2 duplication syndrome’. Individuals with 16p11.2 deletion syndrome are at high risk of obesity and eating binges, whereas patients with 16p11.2 duplication syndrome tend to be very underweight and at higher risk of restrictive eating disorders. This project hopes to increase our knowledge of the development and early signs of eating disorders, and provide vital information to the families affected by these rare genetic conditions.
Genomics and early child development
In my Wellcome Trust ISSF3 Fellowship I combined psychiatric genetics and developmental psychology to investigate the early developmental origins of psychiatric risk. I investigated 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.
Genotype-phenotype relationships in autism
This project investigated the extent to whether different genetic conditions lead to different subtypes of autism. The findings published in the American Journal of Psychiatry found that genetic conditions had diverse by high overlapping effects on autism symptoms (Chawner et al, 2021). 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.
Intellectual Disability and Mental Health: Assessing Genomic Impact on Neurodevelopment (IMAGINE-ID) study
The IMAGINE-ID study involves a collaboration between Cardiff, 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 landscape 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 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 have high genetic vulnerability 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., Sønderby, I.E., Andreassen, O.A., Fox, J., Bulik, C., Owen, M.J., van den Bree, M.B.M. The relationship between the 16p11.2 locus and eating disorders: novel insights from rare genetic conditions. Medical Research Foundation Eating Disorder & Self Harm Fellowship (2021).
- 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).
Biography
In 2021 I started a Medical Research Foundation Mid-career Fellowship which focuses on the development of eating disorders in children & adolescents at high genetic vulnerability (as conferred by rare variation at the 16p11.2 locus).
2020-2021 I held a Wellcome Trust ISSF Fellowship which was titled "Using genomics to understand the early developmental origins of psychiatric conditions", which involved the 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, University 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
- 2021 - present Medical Research Foundation Fellow
- 2020 - 2021: Wellcome Trust ISSF Fellow
- 2019 - 2020: Research Associate, Genes to Mental Health Consortium
- 2015 - 2019: Research Associate, IMAGINE-ID study
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