Current research projects

Genetics of social communication and social skills

Human social communication and interaction play an important role in social success, social adjustment, and cognitive development, while severe impairments of these skills overlap with the autistic continuum. Our group studies the genetic architecture of social and social communication skills, focussing in particular on developmental changes over time. Analyses are carried out in collaboration with the University of Bristol, Birkbeck College, the Karolinska Institutet and the EAGLE consortium.

Example publication
St Pourcain, B., Eaves, L. J., Ring, S. M., Fisher, S. E., Medland, S., Evans, D. M., & Smith, G. D. (2018). Developmental changes within the genetic architecture of social communication behaviour: A multivariate study of genetic variance in unrelated individuals. Biological Psychiatry, 83(7), 598-606. doi:10.1016/j.biopsych.2017.09.020.


Genetics of early language development

Mastering language is an important milestone in a child’s development, and early language development predicts children’s performance at school - and, by extension, later educational attainment. We have previously identified common variation near the ROBO2 gene as associated with word production during early infancy. The EAGLE consortium is currently doing follow-up work to better understand how children learn to speak.

Example publication
St Pourcain, B., Cents, R. A., Whitehouse, A. J., Haworth, C. M., Davis, O. S., O’Reilly, P. F., et al. (2014). Common variation near ROBO2 is associated with expressive vocabulary in infancy. Nature Communications, 5: 4831. doi:10.1038/ncomms5831.


Genetic overlap between language, communication, and disorder

Difficulties mastering linguistic skills are characteristic of many psychiatric illnesses. In collaboration with the BROAD institute, the University of Bristol and Aarhus University, we are aiming to identify genetic links between language-, literacy- and communication-related abilities and psychiatric disorders, while accounting for genetic effects shared with educational attainment. In addition, together with QIMR and VCU, we have also developed and implemented methods to carry out multivariate analyses of genetic variances in unrelated individuals, analogous to twin research methodologies (genetic-relationship matrix and structural equation modelling).

Example publications
Verhoef, E., et al. (2019). Disentangling polygenic associations between Attention-Deficit/Hyperactivity Disorder, educational attainment, literacy and language. Translational Psychiatry, 9: 35. doi:10.1038/s41398-018-0324-2.

St Pourcain, B., Robinson, E. B., et al. (2018). ASD and schizophrenia show distinct developmental profiles in common genetic overlap with population-based social-communication difficulties. Molecular Psychiatry, 23, 263-270. doi:10.1038/mp.2016.198.

Stergiakouli, E., Smith, G. D., Martin, J., Skuse, D. H., Viechtbauer, W., Ring, S. M., et al. (2017). Shared genetic influences between dimensional ASD and ADHD symptoms during child and adolescent development. Molecular Autism, 8: 18. doi:10.1186/s13229-017-0131-2.


Genetics of head circumference

Craniofacial growth during childhood is a complex process that underlies developmental traits such as head circumference and intracranial volume. Our group leads the analysis of common and less frequent genetic variation for head circumference as part of next-generation genetic association studies within the UK10K COHORTS project.

Example publication
Haworth, S., Shapland, C. Y., et al. (2019). Low-frequency variation in TP53 has large effects on head circumference and intracranial volume. Nature Communications, 10: 357. doi:10.1038/s41467-018-07863-x.


Maternal genetic influences on language abilities

Child growth in utero is one of the most sensitive periods during development, and many adverse influences during pregnancy have been shown to affect the wellbeing and cognitive functioning of children in later life. The assessment of prenatal environmental risk factors through observational epidemiological research is, however, subject to confounding. Our group has recently been involved in the development of a new robust methodology, which utilises maternal genetic information to explain environmental variation through, for example, the intrauterine environment. In collaboration with QIMR, VCU and the University of Colorado, we examine whether there is evidence for maternal genetic influences on children’s language development during infancy and childhood.

Example publications
Eaves, L. J., St Pourcain, B., Smith, G. D., York, T. P., & Evans, D. M. (2014). Resolving the Effects of Maternal and Offspring Genotype on Dyadic Outcomes in Genome Wide Complex Trait Analysis (“M-GCTA”). Behavior Genetics, 44(5), 445-455. doi:10.1007/s10519-014-9666-6.


FRIENDS Consortium

A genetic investigation of social abilities during the course of development and their impact on health and disorder.
An initiative in response to the Dutch National Research Agenda - Research along Routes by Consortia.

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