Dr Jack Underwood
(he/him)
Teams and roles for Jack Underwood
WCAT Fellow, Division of Psychological Medicine and Clinical Neurosciences
Overview
I am an Academic Forensic Psychiatry Registrar (ST6) on the Wales Clinical Academic Track. My current research has a focus on genotype-phenotype variants in the CACNA1C gene, as part of a wider interest on modelling pathogenesis of neurodevelopmental disorders. This includes case series, registry studies, and cellular modelling of CACNA1C variants, funded by a Hodge Foundation ECR grant. Alongside this I chair the Scientific Advisory Board for the Timothy Syndrome Alliance (TSA UK) charity, and co-lead on the TSA's CZI Rare As One grant award.
I have a further interest in co-occurring mental and physical health conditions in individuals with neurodevelopmental disorders. I am a member of the LINC collaborative, contributing on this topic. My PhD, funded by a Wellcome Trust GW4-CAT Clinical Fellowship, studied why co-occurring conditions are more common in autistic adults using a mixture of epidemiological and statistical genetic techniques and I continue to undertake research work on this topic.
Publication
2026
- Wilkinson, G. et al. 2026. CACNA1C genetic variants differentially affect neuronal networks through divergent pathways. Biological Psychiatry Global Open Science 100792. (10.1016/j.bpsgos.2026.100792)
- Stow, D. et al., 2026. Genetic and sociodemographic factors associated with trajectories of physical and mental health multimorbidity in a South Asian cohort in the UK: A multistate modelling analysis. PLoS Medicine 23 (7) e1004844. (10.1371/journal.pmed.1004844)
- Underwood, J. F. et al. 2026. Timothy syndrome and CACNA1C-Related Disorder: first international language and management guidelines consensus statement. European Journal of Human Genetics (10.1038/s41431-026-02178-8)
- Underwood, J. F. and Hall, J. 2026. Cannabis and psychosis: genomic methods shed light on pathophysiological processes [Commentary]. Biological Psychiatry Global Open Science 6 (5) 100759. (10.1016/j.bpsgos.2026.100759)
- Katzourou, I. K. et al. 2026. Neurodevelopmental copy-number variants increase risk of internalizing and cardiometabolic multimorbidity: Findings from the UK Biobank. American Journal of Human Genetics 113 (6), pp.1319-1329. (10.1016/j.ajhg.2026.02.021)
- Underwood, J. F. et al. 2026. Childhood trauma as a mediator between autistic traits and depression: evidence from the ALSPAC birth cohort. Psychological Medicine 56 e169. (10.1017/S0033291726104267)
- Rast, J. E. et al., 2026. Association of neurodevelopmental conditions with Alzheimer’s disease and related dementias and Parkinson’s disease. The Journals of Gerontology, Series A: Biological Sciences and Medical Sciences 81 (4) glaf281. (10.1093/gerona/glaf281)
- Stow, D. et al., 2026. Combining polygenic risk scores to understand genetic liability to physical-mental health multimorbidity in UK Biobank. Human Molecular Genetics 35 (7) ddag012. (10.1093/hmg/ddag012)
2025
- Tackley, G. et al. 2025. The experience of itch in autistic adults: An online survey. Autism in Adulthood (10.1089/aut.2024.0143)
- Dardani, C. et al., 2025. Psychotic experiences and disorders in adolescents and young adults with borderline intellectual functioning and intellectual disabilities: evidence from a population-based birth cohort in the United Kingdom. Psychological Medicine 55 e23. (10.1017/S0033291724003556)
- Underwood, J. 2025. Genetic and environmental contributors to co-occurring depression in autism spectrum disorder. PhD Thesis , Cardiff University.
2024
- Hunt, M. et al., 2024. Risk of physical health comorbidities in autistic adults: a clinical nested cross-sectional study. BJPsych Open 10 (6) e182. (10.1192/bjo.2024.777)
- Wren, G. et al. 2024. Memory, mood and associated neuroanatomy in individuals with steroid sulfatase deficiency (X-linked ichthyosis). Genes, Brain and Behavior 23 (3) e12893. (10.1111/gbb.12893)
2023
- Christie, H. et al., 2023. Exploring the perceived impact of parental PTSD on parents and parenting behaviours – a qualitative study. Journal of Child and Family Studies 32 , pp.3378-3388. (10.1007/s10826-023-02614-z)
- Wren, G. et al. 2023. Characterising heart rhythm abnormalities associated with Xp22.31 deletion. Journal of Medical Genetics 60 , pp.636-643. (10.1136/jmg-2022-108862)
- 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)
- Levy, R. et al., 2023. A cross-sectional study of the neuropsychiatric phenotype of CACNA1C-related disorder. Pediatric Neurology 138 , pp.101-106. (10.1016/j.pediatrneurol.2022.10.013)
2022
- Underwood, J. et al. 2022. Neurological and psychiatric disorders among autistic adults: a population healthcare record study. Psychological Medicine (10.1017/S0033291722002884)
- Underwood, J. F. G. et al. 2022. Evidence of increasing recorded diagnosis of autism spectrum disorders in Wales, UK – an e-cohort study. Autism 26 (6), pp.1499-1508. (10.1177/13623613211059674)
- Brcic, L. et al., 2022. Comorbid medical issues in X-linked ichthyosis [Letter]. JID Innovations 2 (3) 100109. (10.1016/j.xjidi.2022.100109)
2021
- Hoskins, M. D. et al. 2021. Pharmacological therapy for post-traumatic stress disorder: a systematic review and meta-analysis of monotherapy, augmentation and head-to-head approaches. European Journal of Psychotraumatology 12 (1) 1802920. (10.1080/20008198.2020.1802920)
- Hoskins, M. D. et al. 2021. Pharmacological-assisted psychotherapy for post-traumatic stress disorder: a systematic review and meta-analysis. European Journal of Psychotraumatology 12 (1) 1853379. (10.1080/20008198.2020.1853379)
2020
- Brcic, L. et al. 2020. Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank. Journal of Medical Genetics 57 (10), pp.692-698. (10.1136/jmedgenet-2019-106676)
- Gubb, S. et al. 2020. Medical and neurobehavioural phenotypes in male and female carriers of Xp22.31 duplications in the UK Biobank. Human Molecular Genetics 29 (17), pp.2872-2881. (10.1093/hmg/ddaa174)
2019
- Underwood, J. et al. 2019. Autism spectrum disorder diagnosis in adults: phenotype and genotype findings from a clinically derived cohort. British Journal of Psychiatry 215 (5), pp.647-653. (10.1192/bjp.2019.30)
- Underwood, J. et al. 2019. SA20COPY Number variants and polygenic risk scores in adults with autism spectrum disorder (ASD): results from the NCMH adult ASD cohort. European Neuropsychopharmacology 29 (S4), pp.S1198-S1199. (10.1016/j.euroneuro.2018.08.242)
2017
- Black, L. F. and Underwood, J. F. G. 2017. P.3.b.045 - Psychosis in Wilson’s disease: an unusual presentation of bipolar affective disorder. Presented at: 30th ECNP Congress 2017 Paris, France 2-5 September 2017. Vol. 27.Vol. Supple. Elsevier. , pp.S915. (10.1016/S0924-977X(17)31627-9)
Articles
- Wilkinson, G. et al. 2026. CACNA1C genetic variants differentially affect neuronal networks through divergent pathways. Biological Psychiatry Global Open Science 100792. (10.1016/j.bpsgos.2026.100792)
- Stow, D. et al., 2026. Genetic and sociodemographic factors associated with trajectories of physical and mental health multimorbidity in a South Asian cohort in the UK: A multistate modelling analysis. PLoS Medicine 23 (7) e1004844. (10.1371/journal.pmed.1004844)
- Underwood, J. F. et al. 2026. Timothy syndrome and CACNA1C-Related Disorder: first international language and management guidelines consensus statement. European Journal of Human Genetics (10.1038/s41431-026-02178-8)
- Underwood, J. F. and Hall, J. 2026. Cannabis and psychosis: genomic methods shed light on pathophysiological processes [Commentary]. Biological Psychiatry Global Open Science 6 (5) 100759. (10.1016/j.bpsgos.2026.100759)
- Katzourou, I. K. et al. 2026. Neurodevelopmental copy-number variants increase risk of internalizing and cardiometabolic multimorbidity: Findings from the UK Biobank. American Journal of Human Genetics 113 (6), pp.1319-1329. (10.1016/j.ajhg.2026.02.021)
- Underwood, J. F. et al. 2026. Childhood trauma as a mediator between autistic traits and depression: evidence from the ALSPAC birth cohort. Psychological Medicine 56 e169. (10.1017/S0033291726104267)
- Rast, J. E. et al., 2026. Association of neurodevelopmental conditions with Alzheimer’s disease and related dementias and Parkinson’s disease. The Journals of Gerontology, Series A: Biological Sciences and Medical Sciences 81 (4) glaf281. (10.1093/gerona/glaf281)
- Stow, D. et al., 2026. Combining polygenic risk scores to understand genetic liability to physical-mental health multimorbidity in UK Biobank. Human Molecular Genetics 35 (7) ddag012. (10.1093/hmg/ddag012)
- Tackley, G. et al. 2025. The experience of itch in autistic adults: An online survey. Autism in Adulthood (10.1089/aut.2024.0143)
- Dardani, C. et al., 2025. Psychotic experiences and disorders in adolescents and young adults with borderline intellectual functioning and intellectual disabilities: evidence from a population-based birth cohort in the United Kingdom. Psychological Medicine 55 e23. (10.1017/S0033291724003556)
- Hunt, M. et al., 2024. Risk of physical health comorbidities in autistic adults: a clinical nested cross-sectional study. BJPsych Open 10 (6) e182. (10.1192/bjo.2024.777)
- Wren, G. et al. 2024. Memory, mood and associated neuroanatomy in individuals with steroid sulfatase deficiency (X-linked ichthyosis). Genes, Brain and Behavior 23 (3) e12893. (10.1111/gbb.12893)
- Christie, H. et al., 2023. Exploring the perceived impact of parental PTSD on parents and parenting behaviours – a qualitative study. Journal of Child and Family Studies 32 , pp.3378-3388. (10.1007/s10826-023-02614-z)
- Wren, G. et al. 2023. Characterising heart rhythm abnormalities associated with Xp22.31 deletion. Journal of Medical Genetics 60 , pp.636-643. (10.1136/jmg-2022-108862)
- 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)
- Levy, R. et al., 2023. A cross-sectional study of the neuropsychiatric phenotype of CACNA1C-related disorder. Pediatric Neurology 138 , pp.101-106. (10.1016/j.pediatrneurol.2022.10.013)
- Underwood, J. et al. 2022. Neurological and psychiatric disorders among autistic adults: a population healthcare record study. Psychological Medicine (10.1017/S0033291722002884)
- Underwood, J. F. G. et al. 2022. Evidence of increasing recorded diagnosis of autism spectrum disorders in Wales, UK – an e-cohort study. Autism 26 (6), pp.1499-1508. (10.1177/13623613211059674)
- Brcic, L. et al., 2022. Comorbid medical issues in X-linked ichthyosis [Letter]. JID Innovations 2 (3) 100109. (10.1016/j.xjidi.2022.100109)
- Hoskins, M. D. et al. 2021. Pharmacological therapy for post-traumatic stress disorder: a systematic review and meta-analysis of monotherapy, augmentation and head-to-head approaches. European Journal of Psychotraumatology 12 (1) 1802920. (10.1080/20008198.2020.1802920)
- Hoskins, M. D. et al. 2021. Pharmacological-assisted psychotherapy for post-traumatic stress disorder: a systematic review and meta-analysis. European Journal of Psychotraumatology 12 (1) 1853379. (10.1080/20008198.2020.1853379)
- Brcic, L. et al. 2020. Medical and neurobehavioural phenotypes in carriers of X-linked ichthyosis-associated genetic deletions in the UK Biobank. Journal of Medical Genetics 57 (10), pp.692-698. (10.1136/jmedgenet-2019-106676)
- Gubb, S. et al. 2020. Medical and neurobehavioural phenotypes in male and female carriers of Xp22.31 duplications in the UK Biobank. Human Molecular Genetics 29 (17), pp.2872-2881. (10.1093/hmg/ddaa174)
- Underwood, J. et al. 2019. Autism spectrum disorder diagnosis in adults: phenotype and genotype findings from a clinically derived cohort. British Journal of Psychiatry 215 (5), pp.647-653. (10.1192/bjp.2019.30)
- Underwood, J. et al. 2019. SA20COPY Number variants and polygenic risk scores in adults with autism spectrum disorder (ASD): results from the NCMH adult ASD cohort. European Neuropsychopharmacology 29 (S4), pp.S1198-S1199. (10.1016/j.euroneuro.2018.08.242)
Conferences
- Black, L. F. and Underwood, J. F. G. 2017. P.3.b.045 - Psychosis in Wilson’s disease: an unusual presentation of bipolar affective disorder. Presented at: 30th ECNP Congress 2017 Paris, France 2-5 September 2017. Vol. 27.Vol. Supple. Elsevier. , pp.S915. (10.1016/S0924-977X(17)31627-9)
Thesis
- Underwood, J. 2025. Genetic and environmental contributors to co-occurring depression in autism spectrum disorder. PhD Thesis , Cardiff University.
Research
My research interests are around the genomics of rare neurodevelopmental disorders and how these genes may guide our understanding of more common mental health conditions. I currently work on the phenotype-genotype relationship of CACNA1C variants, aiming to establish phenotypic features associated with gene variants across loci in this gene and modelling routes to pathogenicity. To examine this I have compiled an international case series of individuals with CACNA1C and their families, with deep phenotyping and cell lines (where available).
I lead the Scientific Advisory Board for the Timothy Syndrome Alliance charity, and have organised and hosted conferences and events for the charity. We were awarded grant funding for a public engagement film in 2021, further funding in 2022 for international translation of conferences, and won the 2022 Gene People Awards Best Research Partnership. In October 2024 we (Timothy Syndrome Alliance) were recipients of a Chan Zuckerberg Initiative Rare As One cycle 3 grant ($800,000), funding the scale up of the charity, to foster research networks and develop a CACNA1C research platform. In 2025 I was awarded a Hodge Foundation Early Career Researcher grant to further undertake genotype-phenotype analyses of the CACNA1C gene. At the 2025 Smiley Charity Film Awards, our collaborative public engagement film Connections won the People's Choice Award (Longform, <£500,000). For my PPIE work on CACNA1C and with TSA I was Highly Commended in the inaugural Rare Disease Research UK Early Career Researcher PPIE award, and won the 2026 Gene People Awards Best Research Partnership Lifetime Achievement award.
I have a further thread of research interest examining autism, a life-long neurodevelopmental condition which affects ~1% of people. Mental health problems are more common in autistic people, but we don't understand why. My PhD, funded by a Wellcome Trust GW4-CAT Fellowship and supervised by Prof Jeremy Hall (Cardiff), Dr Ric Anney (Cardiff), and Prof Dheeraj Rai (Bristol University, Population Health Sciences), looked at this, and what effects genetics or lifestyle have on the mental health of autistic adults. I examined the effects of existing quantified polygenic risk for mental health disorders (PGS) in the autistic population, alongside associations within hospital and general practice record data on subsequent mental health difficulties. To undertake this I identified and co-produced assessments in a cohort of autistic adults from the National Centre for Mental Health (NCMH) Database, as well as autistic people within a large dataset of anonymised healthcare records (SAIL) and a longitudinal population sample (ALSPAC). I continue to publish from this work, and am a member of several international research collaborations on this topic, including the Psychiatric Genomics Consortia ASD Working Group.
Teaching
I teach on several Cardiff and Swansea University courses, at the undergraduate and postgraduate level.
For the Medicine MBBCh course, I lecture on neuroanatomy and provide small group teaching on personality disorders and communication skills. I am a formative and summative psychiatry ISCE examiner. I have supervised intercalating student projects on the Psychology in Medicine BSc course. I supervise SSC projects, which include clinical placements, plus wet and dry research projects.
I teach neurobiology on the MSc in Neuroscience. I have provided data and supervision for short cases and dissertation projects on the MSc in Applied Bioinformatics and Genomics. I have also supervised dissertation projects on the MSc in Psychiatry, and the Doctorate in Clinical Psychology.
In 2016 I completed a Postgraduate Certificate in Clinical Education from Plymouth University PCMD (Distinction). I am a Fellow of the Higher Education Academy, awarded through the Cardiff University Education Fellowship Programme, for which I continue to act as a mentor and assessor.
Biography
I am an Academic Forensic Psychiatry Registrar on the Wales Clinical Academic Track, currently working clinically at ST6 in Caswell Clinic. I completed a PhD (2020-2025) on a Wellcome Trust GW4-CAT Clinical Fellowship. I undertook Core Psychiatry Training and the Foundation Programme in South Wales, after graduating from Medicine (BMBS - Merit) at Peninsula College of Medicine and Dentistry. I have been a member of the Royal College of Psychiatrists since 2018.
Honours and awards
2026 - Gene People Awards - Best Research Partnership Lifetime Achievement - Winner, with TSA
2025 - Smiley Charity Film Awards, Winner of People's Choice Award - collaborative public engagement film "Connections"
2025 - Rare Disease Research UK Early Career Researcher PPIE award - Highly Commended
2025 - Hodge Foundation Early Career Research Grant (PI £18,490)
2025 - RCPsych International Congress Bursary & RCPsych Wales Bursary
2024 - Chan Zuckerberg Initiative Rare As One Grant - as Chair of TSA Scientific Advisory Board (PI $800,000)
2024 - GW4 Epilepsy Community Development Award (Co-Investigator £4,908)
2022 – Gene People Awards - Best Research Partnership - Winner, with TSA
2021 - Cardiff University Innovation for All (IfA) Public Engagement fund: The Rare Disease Research Journey (PI £6,350)
2019 – Wellcome Trust GW4-CAT Clinical Academic Training Fellowship (PI £280,000)
2018 – Wellcome Trust ISSF Clinical Primer Award (PI £29,984)
2018 – RCPsych International Congress Travel Bursary (£450)
2018 – European Psychiatric Association Congress Travel Grant (350 Euro)
2016 – Cardiff MRC Centre Clinical Academic Mentorship Scheme
Professional memberships
Fellow of the Higher Education Academy (FHEA)
Member of the Royal College of Psychiatrists (MRCPsych)
Registered with the General Medical Council (7414226)
Committees and reviewing
I have peer reviewed multiple publications for a variety of journals, including: JAMA Psychiatry, The British Journal of Psychiatry (BJPsych), BJPsych Bulletin, BJPsych Open, Research in Developmental Disorders, Biological Psychiatry, Journal of Intellectual Disability Research, Autism, Advances in Autism, Research in Autism Spectrum Disorders.
Through the Wellcome Gatsby Neuroscience initiative I was involved in the promotion of Neuroscience for the Royal College of Psychiatrists, initially as Neuroscience Trainee Editor for TrOn and later the RCPsych Neuroscience Champion for Wales.
I have further experience of commissioning and clinical governance through a number of committees, including the Welsh Government Autism and Neurodiversity Clinical Advisory Group.
News articles
Contact Details
Research themes
Specialisms
- Psychiatric Genetics