Dr Joseph Symonds

 Approved by JDS

Dr Joseph Symonds is a Senior Clinical Research Fellow at the School of Health & Wellbeing and an Honorary Consultant Paediatric Neurologist at the Royal Hospital for Children, Glasgow. His current position is funded by a Postdoctoral Research Fellowship from the Chief Scientists Office (CSO). He is the Chief Investigator for the EPI-SCOT project a Scotland-wide proepective epidemiological study of childhood-onset epilepsies which will begin recruiting from June 2024.

Dr Symonds graduated in medicine from the University of Dundee in 2008. He has a Bachelor's degree in International Health from the University of Leeds (2007) and a PhD from the University of Glasgow (2019).

Dr Symonds' research aims to answer clinically meaningful questions, with the overall objective of improving outcomes for children affected by neurological conditions. Thanks to recent advances in genetic testing, and the potential for gene-directed therapies, paediatric neurology now finds itself in an exciting era. He has a specific interest in epilepsies associated with the SMC1A, GNAO1, SCN1A, and PRRT2 genes.

Contact details:

Joseph.Symonds@glasgow.ac.uk

 

Administrator: Ms Isla Birnie

Email: Isla.Birnie@glasgow.ac.uk

 

Postal address:

Level 2, School of Health & Wellbeing 

Clarice Pears Building

90 Byres Road

G12 8TB

Research Activity

The focus of Dr Symonds' research is the genetics of early onset childhood epilepsies, taking an epidemiological approach to clearly define phenotypes and accurately estimate incidences of genetic epilepsies. He has shown that genetic epilepsies of childhood are significantly more common than previously thought. This has been invaluable in defining the scale of the problem, and in estimating the size of the population that ay stand to benefit from gene-directed therapies.

Dr Symonds' specialised research skills are epidemiology and population data statistics; bioinformatic analysis; and identification and interpretation of rare genomic variants. Through the application of whole genome sequencing, he has contributed to the definition of ten novel genetic epilepsy syndromes, all of which have involved global collaborative work. He has a specific interest in epilepsies associated with the SMC1A, GNAO1, SCN1A, and PRRT2 genes.

Dr Symonds' aim is to develop his epidemiological work in early childhood epilepsies further, using validated assessment tools to precisely characterise seizure burden and developmental comorbidity, and investigating potential modifying factors that may influence outcomes in genetic epilepsies of early childhood.

Publications

ORCHID iD

Articles:

  • Smallwood K, Watt KE, Ide S… Symonds JD et al. POLR1A variants underlie phenotypic heterogeneity in neural, craniofacial, and cardiac anomalies. Am J. Human Genet. 2023; 110: 1-17. PMID: 37075751
  • Makiello P, Feng T, Dunwoody B… Symonds JD et al. Comorbidities and predictors of health‐related quality of life in Dravet syndrome: A 10‐year, prospective follow‐up study. Epilepsia 2023;64: 1012-1020. PMID 36740581
  • Chen G, Yu B, Tan S… Symonds JD et al. GIGYF1 disruption associates with autism and impaired IGF-1R signalling. J. Clin. Invest. 2022; 132: e159806. PMID: 35917186
  • Brünger T, Pérez-Palma E, Montanucci L… Symonds JD et al. Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes. Brain 2022; 146: 923-934. PMID: 36036558
  • Hughes-McCormack L, Rydzewska E, Cooper S-A… Symonds JD et al. Rates, causes and predictors of all-cause and avoidable mortality in 163,686 children and young people with and without intellectual disabilities: A record linkage national cohort study. BMJ Open 2022; 12: e061636. PMID 36113944
  • El Chehadeh S, Ah Han K, Kim D… Symonds JD et al. SLITRK2 variants associated with neuro- developmental disorders impair excitatory synaptic function and cognition in mice. Nature Commun. 2022; 13: 4112. PMID: 35840571
  • Brunklaus A, Brünger T, Feng T… Symonds JD et al. The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. Brain 2022; 145: 3816-3831. PMID: 35696452
  • Brunklaus A, Pérez-Palma E, Ghanty I… Symonds JD et al. Development and validation of a prediction model for early diagnosis of SCN1A-related epilepsies. Neurology 98; e1163-e1174. PMID 35074891
  • Brunklaus A, Feng T, Brünger T… Symonds JD et al. Gene variant effects across sodium channelopathies predict function and guide precision therapy. Brain 2022; 145: 4275-4286.PMID 35037686
  • Symonds JD, Elliott KS, Shetty J, et al. Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants. Brain 2021; 144: 2879-2891. PMID 34687210
  • Surana P, Symonds JD, Srivastava P, et al. Infantile Spasms: Etiology, lead time and treatment response in a resource limited setting. Epilepsy and Behavior reports 2020; 14:100397. PMID 33196034 October 2020
  • Symonds JD, Moloney TC, Lang B, et al. Neuronal antibody prevalence in children with seizures <3 years: a prospective national cohort. Neurology 2020; 95: e1590-1598. PMID 32690789 April 2020
  • Symonds JD. CHD2 epilepsy: epigenetics and the quest for precision medicine [editorial]. DMCN 2020; 62: 549-550. PMID 31713838 May 2020
  • López-Rivera JA, Pérez-Palma E, Symonds JD et al. A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo Brain 2020; 143: 1099-1105. PMID 32168371 April 2020
  • Brunklaus A, Du J, Steckler F… Symonds JD… et al. Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. Epilepsia 2019; 61:387-399. PMID 32090326 March 2020
  • Brunklaus A, Schorge S, Smith AD…Symonds JD…et al. SCN1A variants from bench to bedside - improved clinical predication and functional characterization. Epilepsia 2019; 41:363-374. PMID 31782251 February 2020
  • Symonds JD and McTague A. Epilepsy and developmental disorders: Next generation sequencing in the clinic. J. Paediatr. Neurol. 2020; 24:15-23. PMID 31882278 January 2020
  • Burgess R, Wang S, McTague A…Symonds JD… et al. Genetic landscape of epilepsy of infancy with migrating focal seizures. Neurol. 2019; 86:821-831. PMID 31618474 December 2019
  • Symonds JD, Zuberi SM, Stewart K, et al. Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain 2019; 142:2303-2318. PMID 31302675 July 2019
  • Mccrorrie K, Thorburn J, Symonds JD, and Turner SW. Falling admissions to hospital with febrile seizures in the UK. Dis. Child. 2019; 104:750-754. PMID 30926585 April 2019
  • Ng BG, Sosicka P, Agadi S… Symonds JD… et al. SLC35A2-CDG: Functional characterisation, expanded molecular, clinical, and biochemical phenotypes of 30 unreported individuals. Hum. Mutat.2019; 40:908-925. PMID 30817854 February 2019
  • McCann ME, de Graff JC, Dorris L… Symonds JD… et al. Neurodevelopmental outcome at 5 years of age after general anaesthesia or awake-regional anaesthesia in infancy (GAS): an international, multicentre, randomised, controlled equivalence trial. Lancet 2019; 393:664-77. PMID 30782342 February 2019
  • Gregor A, Sadleir LG, Asadollahi R… Symonds JD… et al. De novo variants in the F-Box Protein FBXO11 in 20 individuals with a variable neurodevelopmental disorder. J. Hum. Genet. 2018;103:305-316. PMID 30057029 August 2018
  • Myres KA, Bello-Espinosa LE, Symonds JD, et al. Heart rate variability in epilepsy: a potential biomarker for sudden unexpected death in epilepsy risk. Epilepsia 2018; 59(7):1372-1380. PMID 29873813 June 2018
  • Snijders Blok L, Hiatt SM, Bowling KM…Symonds JD…et al. De novo mutations in MED13, a component of the Mediator complex are associated with a novel neurodevelopmental disorder. Genet. 2018; 137:375-388. PMID 29740699 May 2018
  • Symonds JD Further expansion of the genetic GABA-A-opathies [editorial]. J. Paediatr. Neurol. 2018; 22:344 PMID 29653609 April 2018
  • Symonds JD and Zuberi SM. Genetics update: Monogenetics, polygene disorders and the quest for modifying genes. Neuropharmacology 2018; 132:3-19. PMID 29037745 April 2018
  • Steel D, Symonds JD, Zuberi SM and Brunklaus A. Dravet syndrome and its mimics: Beyond SCN1A Epilepsia 2017; 58:1807-1816. PMID 28880996 September 2017
  • Waak M, Mohammad SS…Symonds JD...DDD study. GNAO1-related movement disorder with life-threatening exacerbations – movement phenomenology and response to DBS. JNNP 2018; 89:221-222. PMID 28668776 May 2017
  • Symonds JD, Zuberi M and Johnson MR. Advances in epilepsy gene discovery and implications for epilepsy diagnosis and treatment [review]. Opin. Neurol. 2017; 30:193-199. PMID 28212175 February 2017
  • Symonds JD, Joss S…DDD Study, Zuberi SM. Heterozygous truncation mutations of the SMC1A gene cause a severe early-onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases. Epilepsia 2017; 58:565-575. PMID 28166369 February 2017
  • Wright CM, Bremner M, Lip S, Symonds JD. Does measurement technique explain the mismatch between European head size and WHO charts. Dis. Child. 2017; 102:643-647. MID 27986698 December 2016
  • Roberts SAG, Symonds JD, Chawla R, et al. Positional plagiocephaly following ventriculoperitoneal shunting in neonates and infancy – how serious is it? Childs Nerv. Syst. 2017; 33:275-280. PMID 27848003 November 2016
  • Zuberi SM and Symonds JD. Update on diagnosis and management of childhood epilepsies [review]. Jornal de Pedaitria 2015; 91:S67-77. PMID 26354872 December 2015
  • Symonds JD. Larger scale trials are needed to show what really works [letter]. BMJ 2012;345: e7030 PMID 23097524 October 2012
  • Symonds JD. Drug control is sport is about protecting athletes from exploitation [letter]. BMJ 2012; 344: e4143. PMID 22718897 June 2012

 

Book Chapters:

  • Zuberi SM and Symonds JD. The differential diagnosis of epilepsy. In Epilepsy and Intellectual Disabilities. Editors Prasher VP and Kerr MP. 2016. Springer, New York. December 2016

Grants

  • EPI-SCOT – Epilepsy, Precision Investigation, Stratified Care, and Outcomes of Therapy
    Chief Scientist Office (CSO) – 2022 £501,703.62
    Lork Kelvin Adam Smith Fund (LKAS) - 2022, £98,162.20

  • Transcriptomics in SMC1A Related Epilepsy
    Tenovus foundation - 2018

  • Genomic Investigation in Epilepsy Study (GENIE)
    UCB Pharma / Yorkhill Research Support Scheme – 2015

Prizes, Awards & Distinctions

Awards:

  • Ronnie MacKeith prize for paediatric neurology research (British Paediatric Neurology Association) January 2022

  • Harry Stewart Hutchinson memorial prize (University of Glasgow) March 2020

  • European Paediatric Neurology Society (EPNS) travel bursary to EPNS congress September 2019

  • Jack M Pellock Paediatric travel award, American Epilepsy Society December 2018
  • Paediatric Award for Training Achievements (PAFTA), West of Scotland senior trainee award November 2018
  • European Paediatric Neurology Society travel bursary to annual research meeting October 2018
  • Grass Young Investigator travel award, American Epilepsy Society December 2017