![Samuel Chawner BA (Hons), PhD, FHEA](https://profiles-cardiff.imgix.net/attachments/654?w=200&h=200&auto=format&crop=faces&fit=crop&q=90")
Dr Samuel Chawner
(e/fe)
BA (Hons), PhD, FHEA
- Ar gael fel goruchwyliwr ôl-raddedig
Timau a rolau for Samuel Chawner
Uwch Gymrawd Ymchwil (Ymddiriedolaeth Wellcome)
Trosolwyg
Rwy'n ymchwilydd sydd wedi ennill sawl gwobr sy'n angerddol am ddeall achosion a datblygiad iechyd meddwl plant. Mae fy ngwaith yn pontio gwyddor data iechyd meddwl a phrofiad byw, ac mae'n cynnwys lleisiau rhanddeiliaid cyhoeddus, clinigol a pholisi i siapio a gyrru effaith ystyrlon.
Ar hyn o bryd rwy'n dal Gwobr Datblygu Gyrfa Wellcome 8 mlynedd mawreddog i ymchwilio i epidemioleg ac etioleg yr anhwylder bwyta sydd heb ei astudio, Osgoi Anhwylder Cymeriant Bwyd Cyfyngol (ARFID).
Yn flaenorol, rwyf wedi dal cymrodoriaethau gan y Sefydliad Ymchwil Feddygol ac ISSF Ymddiriedolaeth Wellcome Prifysgol Caerdydd i ymchwilio i effaith genomeg ar ddatblygiad plant, iechyd meddwl ac anhwylderau bwyta.
Rwy'n Gyd-Ymchwilydd yr astudiaeth IMAGINE-ID sy'n ymchwilio i iechyd meddwl plant â chyflyrau genetig prin, ac sy'n chwarae rôl allweddol wrth hwyluso ymchwil Prifysgol Caerdydd i ddatblygiad plant ag amrywiadau genetig prin. Rhan bwysig o fy ngwaith yw codi ymwybyddiaeth o anghenion iechyd meddwl plant â chyflyrau genetig prin, gan gynnwys 22q11.2 Dileu, 16p11.2 Dileu, a 16p11.2 Syndromau dyblygu.
Rwy'n ymrwymedig i amrywiaeth, cynhwysiant ac effaith mewn ymchwil ac mae hyn wedi'i gydnabod gan Wobr Rising Star Ymchwil Iechyd a Gofal Cymru. Rwy'n frwdfrydig am ymgysylltu â'r cyhoedd gwyddoniaeth greadigol – dod o hyd i ffyrdd arloesol o gysylltu â chynulleidfaoedd amrywiol i godi ymwybyddiaeth o ymchwil i genomeg ac iechyd meddwl.
Cyhoeddiad
2026
- Downs, J. et al., 2026. Do new labels solve old problems? Conceptual, ethical, and clinical challenges of constructing restrictive eating behaviours as “self-harm”. Journal of Eating Disorders 14 (1) 144. (10.1186/s40337-026-01654-2)
- Reyes, I. C. et al., 2026. Sleep profiles in individuals with rare neurogenetic syndromes. Developmental Medicine & Child Neurology (10.1111/dmcn.70337)
- Chawner, S. et al. 2026. Dimensional phenotype measurement in children with rare genetic conditions: new insights into the aetiology of neurodevelopmental and psychiatric disorders. Frontiers in Psychiatry 17 1602131. (10.3389/fpsyt.2026.1602131)
- Lee, I. O. et al., 2026. The influence of genetic factors on education health and care plan obtainment for pupils with intellectual developmental disabilities. Scientific Reports 16 9181. (10.1038/s41598-026-36227-5)
- Bjørndal, L. D. et al., 2026. Prevalence, characteristics, and genetic architecture of avoidant/restrictive food intake phenotypes. JAMA Pediatrics 180 (1), pp.45-55. (10.1001/jamapediatrics.2025.4786)
2025
- Lee, I. et al., 2025. Inequalities of the waiting time for education health and care plan provision for pupils with intellectual developmental disabilities: a brief report. Journal of Intellectual Disability Research 69 (11), pp.1325-1336. (10.1111/jir.13239)
- Rubino, L. et al. 2025. Pica in childhood: concurrent and sequential psychiatric comorbidity. International Journal of Eating Disorders 58 (10), pp.1936-1945. (10.1002/eat.24491)
- Chawner, S. J. R. A. 2025. Eating behaviour and eating disorders in individuals with rare neurodevelopmental variants: current knowledge and future research directions. Frontiers in Psychiatry 16 1627378. (10.3389/fpsyt.2025.1627378)
- Walker, A. et al., 2025. Genome-wide copy number variation association study in anorexia nervosa. Molecular Psychiatry 30 , pp.2009-2016. (10.1038/s41380-024-02811-2)
- Ali, N. M. et al. 2025. Comparison of autism domains across thirty rare variant genotypes. EBioMedicine 112 105521. (10.1016/j.ebiom.2024.105521)
- Gur, R. C. et al., 2025. Neurocognitive profiles of 22q11.2 and 16p11.2 deletions and duplications. Molecular Psychiatry 30 , pp.379-387. (10.1038/s41380-024-02661-y)
2024
- 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 68 (10), pp.1167-1183. (10.1111/jir.13139)
- Hall, J. H. et al. 2024. Irritability in young people with copy number variants associated with neurodevelopmental disorders (ND-CNVs). Translational Psychiatry 14 (1) 259. (10.1038/s41398-024-02975-z)
- Papini, N. M. et al., 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) 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) 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) e32. (10.1192/bjo.2022.636)
- Chawner, S. J. R. A. et al. 2023. Sleep disturbance as a transdiagnostic marker of psychiatric risk in children with neurodevelopmental risk genetic conditions. Translational Psychiatry 13 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 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. SSRN (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. et al., 2021. Neurodevelopmental trajectories and psychiatric morbidity: lessons learned from the 22q11.2 deletion syndrome. Current Psychiatry Reports 23 13. (10.1007/s11920-021-01225-z)
- Linden, S. C. et al. 2021. The psychiatric phenotypes of 1q21 distal deletion and duplication. Translational Psychiatry 11 105. (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) 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) 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 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. et al. 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.. bioRxiv (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. et al. 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. et al. 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. et al. 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.
Erthyglau
- Downs, J. et al., 2026. Do new labels solve old problems? Conceptual, ethical, and clinical challenges of constructing restrictive eating behaviours as “self-harm”. Journal of Eating Disorders 14 (1) 144. (10.1186/s40337-026-01654-2)
- Reyes, I. C. et al., 2026. Sleep profiles in individuals with rare neurogenetic syndromes. Developmental Medicine & Child Neurology (10.1111/dmcn.70337)
- Chawner, S. et al. 2026. Dimensional phenotype measurement in children with rare genetic conditions: new insights into the aetiology of neurodevelopmental and psychiatric disorders. Frontiers in Psychiatry 17 1602131. (10.3389/fpsyt.2026.1602131)
- Lee, I. O. et al., 2026. The influence of genetic factors on education health and care plan obtainment for pupils with intellectual developmental disabilities. Scientific Reports 16 9181. (10.1038/s41598-026-36227-5)
- Bjørndal, L. D. et al., 2026. Prevalence, characteristics, and genetic architecture of avoidant/restrictive food intake phenotypes. JAMA Pediatrics 180 (1), pp.45-55. (10.1001/jamapediatrics.2025.4786)
- Lee, I. et al., 2025. Inequalities of the waiting time for education health and care plan provision for pupils with intellectual developmental disabilities: a brief report. Journal of Intellectual Disability Research 69 (11), pp.1325-1336. (10.1111/jir.13239)
- Rubino, L. et al. 2025. Pica in childhood: concurrent and sequential psychiatric comorbidity. International Journal of Eating Disorders 58 (10), pp.1936-1945. (10.1002/eat.24491)
- Chawner, S. J. R. A. 2025. Eating behaviour and eating disorders in individuals with rare neurodevelopmental variants: current knowledge and future research directions. Frontiers in Psychiatry 16 1627378. (10.3389/fpsyt.2025.1627378)
- Walker, A. et al., 2025. Genome-wide copy number variation association study in anorexia nervosa. Molecular Psychiatry 30 , pp.2009-2016. (10.1038/s41380-024-02811-2)
- Ali, N. M. et al. 2025. Comparison of autism domains across thirty rare variant genotypes. EBioMedicine 112 105521. (10.1016/j.ebiom.2024.105521)
- Gur, R. C. et al., 2025. Neurocognitive profiles of 22q11.2 and 16p11.2 deletions and duplications. Molecular Psychiatry 30 , pp.379-387. (10.1038/s41380-024-02661-y)
- 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 68 (10), pp.1167-1183. (10.1111/jir.13139)
- Hall, J. H. et al. 2024. Irritability in young people with copy number variants associated with neurodevelopmental disorders (ND-CNVs). Translational Psychiatry 14 (1) 259. (10.1038/s41398-024-02975-z)
- Papini, N. M. et al., 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) 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) 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) e32. (10.1192/bjo.2022.636)
- Chawner, S. J. R. A. et al. 2023. Sleep disturbance as a transdiagnostic marker of psychiatric risk in children with neurodevelopmental risk genetic conditions. Translational Psychiatry 13 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 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. SSRN (10.2139/ssrn.4028542)
- 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. et al., 2021. Neurodevelopmental trajectories and psychiatric morbidity: lessons learned from the 22q11.2 deletion syndrome. Current Psychiatry Reports 23 13. (10.1007/s11920-021-01225-z)
- Linden, S. C. et al. 2021. The psychiatric phenotypes of 1q21 distal deletion and duplication. Translational Psychiatry 11 105. (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) 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) 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 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)
- Chawner, S. et al. 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.. bioRxiv (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)
- Chawner, S. J. et al. 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. et al. 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. et al. 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)
Gosodiad
- Chawner, S. 2015. Longitudinal follow-up of 22q11.2 Deletion Syndrome: a study of individuals at high risk of schizophrenia. PhD Thesis , Cardiff University.
Ymchwil
Trosolwg Ymchwil
Rwy'n angerddol am ddeall achosion a datblygiad iechyd meddwl plant gan ddefnyddio gwyddor data iechyd meddwl arloesol a methodolegau genetig. Mae fy ngwaith yn pontio gwyddor data iechyd meddwl a phrofiad byw, ac mae'n cynnwys lleisiau rhanddeiliaid cyhoeddus, clinigol a pholisi i lywio a sbarduno effaith ystyrlon.
Mae fy ymchwil yn cynnwys:
✨ Etioleg ac epidemioleg anhwylderau bwyta
✨ Iechyd meddwl mewn plant â chyflyrau genetig prin
Nod fy ngwaith yw nodweddu'r llwybrau datblygiadol o ffactorau risg genomig ac enivronmental i ganlyniadau seiciatrig, gan alluogi adnabod arwyddion cynnar o risg a thargedau posibl ar gyfer ymyrraeth gynnar. Mae fy ngwaith yn cyfrannu at amrywiaeth o gydweithrediadau a chonsortia cenedlaethol a rhyngwladol sy'n canolbwyntio ar amrywiolion genomig prin a seiciatreg.
Cymeriadau heterogenedd clinigol ac etioleg Anhwylder Cymeriant Bwyd Restirictive Osgoi
Yn 2024, derbyniais Wobr Datblygu Gyrfa Ymddiriedolaeth Wellcome 8 mlynedd i ymchwilio i ddatblygiad ARFID (Anhwylder Bwyta Osgoi/Cyfyngol). Cyflwynwyd ARFID i'r system ddosbarthu ddiagnostig DSM-5 yn 2013, ac mae'n anhwylder bwydo a bwyta difrifol wedi'i farcio gan osgoi bwyd a chymeriant cyfyngedig, gyda mynychder o 1-2%, a chanlyniadau difrifol a all gynnwys diffyg maeth, trallod seicogymdeithasol a bwydo tiwb ward cleifion mewnol. Mae ARFID yn heterogenaidd mewn cyflwyniad clinigol, gan gwmpasu symptomau fel archwaeth llai, dargyfeirio bwyd synhwyraidd, ac ofn canlyniadau niweidiol sy'n gysylltiedig â bwyta. Mae'r heterogenedd hwn wedi codi cwestiynau pwysig a chysylltiedig ynghylch cysyniadu ARFID.
- A ddylid cysyniadu ARFID fel naill ai cyflwr niwroddatblygiadol, anhwylder gorbryder, o ganlyniad i anghydbwysedd metabolaidd neu gyfuniad o'r rhain?
- A yw ARFID yn cynnwys casgliad o isdeipiau aetiolegol gwahanol a fydd yn gofyn am ddulliau triniaeth gwahanol?
I fynd i'r afael â hyn, byddaf yn defnyddio carfannau ar raddfa fawr i:
- Nodweddu heterogenedd ARFID
- Isdeipiau deilliadol sy'n cael eu gyrru gan ddata
- Ymchwilio i etioleg, ac a ellir gwahaniaethu rhwng isdeipiau'n aetiolegol
Gydag ymchwil ARFID yn ei fabandod, nawr yw'r amser i ateb y cwestiynau sylfaenol hyn i lywio dulliau ymchwil ac ymyrraeth etiolegol yn y dyfodol. Byddaf yn gweithio gydag unigolion sy'n byw gydag ARFID, gwasanaethau, a'r elusen Beat, trwy gydol y gymrodoriaeth i gyd-gynhyrchu adnoddau sy'n seiliedig ar dystiolaeth, a dylanwadu ar ddatblygiad gwasanaethau.
Datblygu anhwylderau bwyta mewn plant sydd â risg genomig uchel
Yn fy Nghymrodoriaeth Sefydliad Ymchwil Feddygol, canolbwyntiais ar ddau gyflwr genetig prin sy'n gysylltiedig â gwahaniaethau eithafol ym mhwysau'r corff ac ymddygiad bwyta annormal. Achosir yr amodau genetig hyn gan DNA yn cael ei ddileu neu ei ddyblygu ar un o'r cromosomau, a elwir yn 'syndrom dileu 16p11.2' a 'syndrom dyblygu 16p11.2'. Mae unigolion â syndrom dileu 16p11.2 mewn perygl uchel o ordewdra a pyliau bwyta, tra bod cleifion â syndrom dyblygu 16p11.2 yn tueddu i fod yn llai o bwysau ac mewn mwy o berygl o anhwylderau bwyta cyfyngol.
Genomeg a datblygiad cynnar plant
Yn fy Nghymrodoriaeth ISSF3 Ymddiriedolaeth Wellcome, cyfunais geneteg seiciatrig a seicoleg ddatblygiadol i ymchwilio i darddiad datblygiadol cynnar risg seiciatrig (Chawner et al, 2023). Ymchwiliais i broffil ymddygiadol cynnar plant ifanc â chyflyrau genetig risg seiciatrig, trwy asesu agweddau allweddol ar ddatblygiad cynnar gan gynnwys iaith, cyfathrebu, datblygiad cymdeithasol, rheolaeth echddygol, ac ystod o swyddogaethau'r ymennydd, gan gynnwys deall emosiynau, gallu cynllunio, cof a galluoedd synhwyraidd.
Cysylltiadau genoteip-ffenoteip mewn awtistiaeth
Ymchwiliodd y prosiect hwn i ba raddau a yw cyflyrau genetig gwahanol yn arwain at wahanol isdeipiadau o awtistiaeth. Canfu'r canfyddiadau a gyhoeddwyd yn yr American Journal of Psychiatry fod cyflyrau genetig yn amrywiol gan effeithiau gorgyffwrdd uchel ar symptomau awtistiaeth (Chawner et al, 2021). Roedd hwn yn brosiect cyffrous a gyfunodd ddata ar ddileu 16p11.2, Dyblygu 16p11.2, Dileu 22q11.2, a syndromau dyblygu 22q11.2 o 8 safle ymchwil rhyngwladol ledled Ewrop a'r UD.
Anabledd Deallusol ac Iechyd Meddwl: Asesu Effaith Genomig ar Astudiaeth Niwroddatblygiad (IMAGINE-ID)
Mae'r astudiaeth IMAGINE-ID yn cynnwys cydweithrediad rhwng Caerdydd, Prifysgol Caergrawnt a Choleg Prifysgol Llundain. Nod y prosiect yw cynyddu dealltwriaeth o'r cysylltiadau rhwng anabledd deallusol ac anhwylderau cromosomal, gyda'r nod yn y pen draw o wella mewnwelediadau i broffiliau clinigol anhwylderau cromosomal er mwyn llywio prognosis a rheolaeth. Gweithiais fel Cydymaith Ymchwil a chydlynais gydran ffenoteipio dwfn yr astudiaeth IMAGINE-ID a gyhoeddais yn Lancet Psychiatry (Chawner et al, 2019). Rwy'n Gyd-ymchwilydd ar ddilyniant hydredol a ariannwyd yn ddiweddar o'r garfan IMAGINE-ID i ymchwilio i ddatblygiad iechyd meddwl ar draws glasoed.
Gwneud y mwyaf o Effaith Ymchwil mewn Anhwylderau Niwroddatblygiadol (MINDDS)
Mae prosiect MINDDS yn dod â rhwydwaith ledled Ewrop o wyddonwyr clinigol, ymchwilwyr preclinical a chynrychiolwyr cleifion ynghyd i hyrwyddo astudiaethau unigolion â chyflyrau niwroddatblygiadol a achosir gan CNVs ac i wella gofal i'r cleifion hyn yn y pen draw. Roeddwn yn Gyd-ymchwilydd y rhwydwaith, ac yn arwain prosiect yn cwmpasu tirwedd CNV yn Ewrop (Chawner & Mihaljevic et al, 2020). Roeddwn hefyd yn ymwneud â rhedeg ysgol hyfforddi mewn ffenoteipio clinigol ar gyfer clinigwyr ymchwilwyr yn Skopje, Macedonia.
Consortiwm genynnau i Iechyd Meddwl
Rwy'n aelod o'r Consortiwm Genes to Mental Health, sydd wedi'i strwythuro o amgylch pedwar prosiect a fydd yn astudio'r symptomau ymddygiadol a gwybyddol mewn unigolion ag amrywiolion genetig prin sy'n rhoi risg uchel i gyflyrau seiciatrig niwroddatblygiadol. Bydd cyfranogwyr yn cael eu hadnabod mewn clinigau ysbyty yn ogystal ag yn y boblogaeth gyffredinol ar draws tri chyfandir.
Datblygiad hydredol Syndrom Dileu 22q11.2
Fel rhan o'm PhD cynhaliais astudiaeth hydredol o bobl ifanc â Syndrom Dileu 22q11.2, sydd â bregusrwydd genetig uchel i ddatblygu seicosis. Ymchwiliais i sut y newidiodd gwybyddiaeth dros y cyfnod bregus hwn (Chawner et al, 2017) a nodi rhagfynegiadau o brofiadau seicotig sy'n dod i'r amlwg yn 22q11.2 Syndrom Dileu (Chawner et al, 2019). Cyfrannodd fy data PhD at Gonsortiwm Rhyngwladol Brain ac Ymddygiad 22q11.2, sydd wedi arwain at amrywiaeth o bapurau cydweithredol.
Cyllid a Grantiau
- Chawner, S.J.R.A., Cymeriadau heterogenedd clinigol ac etioleg Anhwylder Cymeriant Bwyd Restirictive Osgoi. Gwobr Datblygu Gyrfa Ymddiriedolaeth Wellcome (2024).
- Chawner, S.J.R.A., Sønderby, I.E., Andreassen, O.A., Fox, J., Bulik, C., Owen, M.J., van den Bree, M.B.M. Y berthynas rhwng y locws 16p11.2 ac anhwylderau bwyta: mewnwelediadau newydd o gyflyrau genetig prin. Sefydliad Ymchwil Meddygol Anhwylderau Bwyta a Chymrodoriaeth Hunan-Niwed (2021).
- Chawner, S.J.R.A. Defnyddio genomeg i ddeall tarddiad datblygiadol cynnar cyflyrau seiciatrig. Gwobr Cymrodoriaeth ISSF3 Ymddiriedolaeth Wellcome (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. Grant Rhaglen y Cyngor Ymchwil Meddygol (2020).
- Chawner, S.J.R.A., Hopkins, C., Phenotypica. Cofleidio cymhlethdod - humanising mental health and genetics research through creative multi-stakeholder engagement. Gwobr Prawf o Gysyniad Ymgysylltu â'r Cyhoedd Ymddiriedolaeth Wellcome ISSF3 (2020).
- Chawner, S.J.R.A. Proffil cysgu plant ag awtistiaeth sy'n gysylltiedig â chyflwr genetig. Rhaglen Cyfleoedd Ymchwil Israddedigion Caerdydd, cynllun efrydiaeth haf (gohiriwyd oherwydd COVID-19).
- van den Bree, M.B.M., Raymond, F.L., Escott-Price, V., Chawner, S.J.R.A. Astudiaeth beilot i ddatblygu offeryn i ddal problemau niwroddatblygiadol eang mewn plant sydd â diagnosis genetig o anabledd deallusol. Cronfa Elusennol Baily Thomas (2019).
- Chawner, S.J.R.A. Datblygiad cynnar plant bach sydd mewn perygl genomig o sgitsoffrenia. Rhaglen Cyfleoedd Ymchwil Israddedigion Caerdydd, cynllun efrydiaeth haf (2019).
- Chawner, S.J.R.A. Effaith genomeg ar ddatblygiad plentyndod. Rhaglen Cyfleoedd Ymchwil Israddedigion Caerdydd, cynllun efrydiaeth haf, PI, (2018).
- Chawner, S.J.R.A., y Gelli, D., Erichsen, J., Owen, M.J., Hall, J., van den Bree, M.B.M. Tarddiad datblygiadol anhwylder seiciatrig: asesiad o blentyndod cynnar yn 22q11.2. Syndrom dileu. Sefydliad Ymchwil Iechyd Meddwl Niwrowyddoniaeth, gwobr seedcorn, (2017).
- Chawner, S.J.R.A., y Gelli, D., Erichsen, J., Owen, M.J., van den Bree, M.B.M. Tarddiad datblygiadol anhwylder seiciatrig: asesiad o blentyndod cynnar yn 22q11.2. Syndrom dileu. Y Cyngor Ymchwil Meddygol Geneteg a Genomeg Niwroseiciatrig, gwobr seedcorn, (2017).
- Cydweithrediad Ewropeaidd mewn Gwyddoniaeth a Thechnoleg, grant rhwydweithio, MINDDS (Maximising Impact of research in NeuroDevelopmental Disorders), Cyd-Ymchwilydd (2017).
- Chawner, S.J.R.A. Datblygiad plant sydd â risg genetig uchel o sgitsoffrenia. Cymdeithas Ymchwil Prifysgol Caerdydd, cynllun efrydiaeth yr haf (2017).
- Chawner, S.J.R.A. Datblygiad plant sydd mewn perygl genomig o anhwylder seiciatrig. Rhaglen Cyfleoedd Ymchwil Israddedigion Caerdydd, cynllun efrydiaeth haf (2016).
- Chawner, S.J.R.A. Datblygiad plant sydd mewn perygl genomig o anhwylder seiciatrig. Cymdeithas Ymchwil Prifysgol Caerdydd, cynllun efrydiaeth yr haf (2016).
- Chawner, S.J.R.A. Cyngor Ymchwil Meddygol, dyfarniad atodol, hyfforddiant ystadegol mewn dulliau hydredol (2014).
- Chawner, S.J.R.A. Cyngor Ymchwil Meddygol PhD Efrydiaeth (2011).
Bywgraffiad
Yn 2024, dechreuais Wobr Datblygu Gyrfa Ymddiriedolaeth Wellcome 8 mlynedd sy'n ymchwilio i epidemioleg ac etioleg yr anhwylder bwyta heb ei astudio'n ddigonol, Anhwylder Bwyta Cyfyngedig Osgoi (ARFID).
2021-2024 Cynhaliais Gymrodoriaeth Canol Gyrfa Sefydliad Ymchwil Meddygol sy'n canolbwyntio ar ddatblygu anhwylderau bwyta mewn plant a phobl ifanc ar fregusrwydd genetig uchel (fel y'i rhoddir gan amrywiad prin yn y locws 16p11.2).
2020-2021 Cynhaliais Gymrodoriaeth ISSF Ymddiriedolaeth Wellcome a oedd yn dwyn y teitl "Defnyddio genomeg i ddeall tarddiad datblygiadol cynnar cyflyrau seiciatrig", a oedd yn cynnwys Canolfan Gwyddoniaeth Datblygiadol Dynol Prifysgol Caerdydd, a Chanolfan Geneteg a Genomeg Niwroseiciatrig y Cyngor Ymchwil Feddygol.
Roedd fy ngwaith ôl-ddoethurol blaenorol, fel rhan o astudiaethau IMAGINE-ID a G2MH , yn ymchwilio i berthnasau genoteip a ffenoteip ar draws ystod o gyflyrau genomig risg niwroddatblygiadol. Rwy'n parhau i gyfrannu at ystod o raglenni ymchwil cenedlaethol a rhyngwladol o unigolion sydd ag amrywiolion rhif copi cromosomaidd prin (CNVs) sy'n gysylltiedig â risg niwroseiciatrig.
Yn 2016 cwblheais PhD mewn Meddygaeth yn y Ganolfan Geneteg a Genomeg Niwroseiciatrig. Teitl fy nhraethawd ymchwil oedd "Dilyniant hydredol o Syndrom Dileu 22q11.2: astudiaeth o unigolion sydd â risg uchel o sgitsoffrenia".
Cyn fy PhD, cefais anrhydedd BA Dosbarth Cyntaf mewn Seicoleg (Tripos Gwyddorau Naturiol) gyda gwobrau yng Ngholeg Girton, Prifysgol Caergrawnt.
Anrhydeddau a dyfarniadau
- Gwobr Rising Star Ymchwil Iechyd a Gofal Cymru (2024)
- Rhestr C100 Prifysgol Caergrawnt o gyn-fyfyrwyr LHDTC+ arloesol (2024)
- Spectrum News rhestr ddyfynnir yn fawr, yn ymddangos yn "Trends in autism research 2021"
- Sgôr altmetrig uchaf y mis American Journal of Psychiatry (2021)
- Gwobr Teithio Cynhadledd MQ (2018)
- Cyflwyniad Llafar yn rownd derfynol Cyngres Geneteg Seiciatrig y Byd (2017)
- Gwobr teithio cynhadledd Canolfan y Cyngor Ymchwil Feddygol ar gyfer Geneteg Niwroseiciatrig a Genomeg Cynllun Ymchwilwyr Cynnar (2017)
- Gwobr teithio cynhadledd Guarantors of Brain (2017)
- Hyrwyddwr Ymgysylltu â'r Cyhoedd, Canolfan y Cyngor Ymchwil Meddygol ar gyfer Geneteg a Genomeg Niwroseiciatrig (2016)
- Gwobr deithio Max Appeal ar gyfer Cynhadledd Syndrom Dileu 22q11.2 (2016)
- Gwobr deithio Sefydliad Ymchwil Iechyd Meddwl Niwrowyddoniaeth y DU (2016)
- Poster Finalist ar gyfer Cyngres Geneteg Seiciatrig y Byd (2014)
- Gwobr Marion Bidder ac Ysgoloriaeth John Bowyer Buckley, a ddyfarnwyd am berfformiad ym mlwyddyn olaf y brifysgol (2011, Coleg Girton, Prifysgol Caergrawnt)
Aelodaethau proffesiynol
- Consortiwm Geneteg Seiciatrig - Aelod gweithgor Anhwylder Bwyta
- Genes i Iechyd Meddwl Aelod o'r consortiwm
- IMAGINE-ID (Anabledd Deallusol ac Iechyd Meddwl: Asesu Effaith Genomig ar Niwroddatblygiad) Astudiaeth Cyd-Ymchwilydd
- 22q11.2 Aelod Consortiwm Rhyngwladol yr Ymennydd ac Ymddygiad
- Cyd-ymchwilydd consortiwm MINDDS (Maximising Impact of research in NeuroDevelopmental Disorders)
- Grŵp Trawsbleidiol Cynulliad Cymru ar gyflyrau prin, genetig a heb ddiagnosis
- 22q11.2 Cymdeithas Aelod Sefydlu
Safleoedd academaidd blaenorol
- 2024 ymlaen Uwch Gymrawd Ymchwil (Ymddiriedolaeth Wellcome)
- 2021 - 2024: Cymrawd Sefydliad Ymchwil Meddygol
- 2020 - 2021: Cymrawd ISSF Ymddiriedolaeth Wellcome
- 2019 - 2020: Cyswllt Ymchwil, Consortiwm Genes i Iechyd Meddwl
- 2015 - 2019: Astudiaeth Cyswllt Ymchwil, IMAGINE-ID
Pwyllgorau ac adolygu
- Adolygydd ar gyfer cyfnodolion blaenllaw gan gynnwys American Journal of Psychiatry, Biological Psychiatry, Molecular Psychiatry, a Meddygaeth Seicolegol
- Adolygydd Grant ar gyfer y Cyngor Ymchwil Feddygol, Ymddiriedolaeth Wellcome, a Gwobr MQ Gwyddor Data
- Cadeirydd grŵp ffocws polisi Ymchwilydd Gyrfa Gynnar yn Academi Gwyddorau Meddygol "Yr ymennydd sy'n datblygu mewn iechyd a chlefydau" Gweithdy
- Aelod o bwyllgor adolygu Banc Biobanc Prifysgol Caerdydd
