Research projects at our department typically fall into one of five themes. To find out more about each of our research themes, as well as our current projects, click on the relevant theme below.
- Gene hunting
Different people vary in their speech, language, and reading skills, and a subset of children have difficulties acquiring proficiency in these areas. It is well established that genetic factors make a significant contribution to such variability. However, it has proved challenging to identify the individual genes that are involved. In this theme, our researchers apply the latest methodologies for DNA sequencing and genome-wide screening to successfully pinpoint key genetic variants. We use an array of complementary strategies, ranging from studies of rare mutations in children with severe language-related disorders to large-scale investigations of common gene variants in cohorts of many thousands of people from the general population. This theme depends on the robust characterisation of language-related traits and involves collaborations with neuropsychologists, speech pathologists, and clinical geneticists across the world. The genes that we uncover provide windows into the critical neurobiological pathways in work carried out under other themes of the department.
Rare mutations disrupting speech and language development
Common gene variants associated with speech, language, and reading
- Bridging molecules, cells, circuits, and behaviour
Our genetic mapping studies are successfully uncovering rare gene disruptions that are implicated in neurodevelopmental disorders affecting speech and language skills (as described in the “Gene hunting” theme). Crucially, we do not consider the identification of aetiological mutations to be the ultimate goal of the Department’s research programme. Rather, risk variants are the focus of functional studies in the laboratory - experiments that are designed to understand why and how such mutations lead to disorders. A range of complementary methods is used that address different levels of analysis, from molecular mechanisms to cellular properties, through to functions of brain circuits and impacts on behaviour. Much of the work involves growing human cells in the laboratory, but certain studies are currently only feasible using animal models (e.g. transgenic mice). We apply state-of-the-art approaches for transcriptomic and proteomic characterisation to assess networks of genes and proteins and to examine how they go awry in the associated disorders. This research enhances our fundamental understanding of the neurobiological pathways that are essential for speech and language.
Modelling genetic disruptions using cellular systems
Deciphering molecular networks of language-related proteins
- Imaging genomics
This theme is led by the Francks research group.
The left and right sides of the human brain are specialised in different kinds of information processing and much of our cognition is relatively lateralised to one side or the other. Language is a striking example, for which several component processes are lateralised leftwards in most people. Left-right asymmetry is an important organising feature of the human brain, but the underlying molecular mechanisms remain almost completely unknown. In addition, language impairments, schizophrenia, and autism sometimes involve altered brain asymmetry.
Brain asymmetry in health and disease
Gene expression within the cerebral cortical language network
- Human evolution
In this theme, we take data from the genetic mapping of language-related traits and/or key aspects of the structure of the human brain and attempt to integrate them with findings from molecular anthropology, including genomic sequences of archaic hominins (Neandertals/Denisovans) and comparative analyses of non-human primates. We use these novel approaches to query the evolutionary history of the genetic architecture underlying human speech and language and related neuroimaging traits.
Fisher, S. E. (2019). Human genetics: The evolving story of FOXP2. Current Biology, 29(2), R65-R67. doi:10.1016/j.cub.2018.11.047. [pdf]
Fisher, S. E. (2017). Evolution of language: Lessons from the genome. Psychonomic Bulletin & Review, 24(1), 34-40. doi: 10.3758/s13423-016-1112-8. [pdf]
- Population genetics of human communication
This theme is led by the St Pourcain research group.
Human language is one of the most distinct and fascinating features of humankind. As a system of communication, language supports peer contact and interaction but also cognitive development, learning, and knowledge transfer. Our understanding of the genetic mechanisms behind this complex phenotype is, however, still poor. In this theme, we aim to decipher the genetic basis of language and communication in typically developing children using modern genetic epidemiological analysis techniques.
Genetic heterogeneity in Autism spectrum disorders
The developmental genetic architecture of social communication and interaction
Genetics of early language development
Genetic-relationship matrix structural equation modelling (GRM-SEM)
Genetics of head circumference
For more information about our current projects, please visit the Population genetics of human communication Projects page.
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