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PhD in Molecular Genetics, University of Melbourne (2016)
Department of Biological and Medical Sciences
Faculty of Health and Life Sciences
+ 44 (0)1865 483276
Headington Campus, Oxford
I am an early career researcher in the Newbury lab. I use a range of bioinformatic and molecular biology techniques to study how genetics influences human learning through extreme traits. My main interests are:
Speech Genetics (Robinson Crusoe Island)
Speech and language disorders are a common childhood developmental issue (7% of children) (Norbury et al. 2016) and result in an increased lifetime risk of mental health issues and poor life outcomes (Conti-Ramsden et al. 2008). Despite being so common, we understand little of the biology underpinning disorders of speech, however, it is becoming increasingly apparent that genetic risk, or susceptibility, plays an important role. The identification of genetic risk factors for speech and language disorder may also help explain why language ability is so often affected in related disorders such as autism spectrum disorder, developmental dyslexia, intellectual learning disability or ADHD.
Using recent advances in genetic technologies, I am investigating genetic contributions to speech and language disorders in the inhabitants of Robinson Crusoe Island (RCI), Chile. The island was colonised in the late 19th century, and is physically isolated, over 600km away, from the mainland. Most of the people who live there today are related to the original 62 founders. Two-thirds of Islander children have speech and language disorder, 10-fold higher than expected.
The Genetics of Face Recognition
We know there is something special about the way we interact with faces. From an early age, both animals and humans show a clear preference for faces over other visual stimuli - new born babies will actively choose to look at images of faces (Goren et al 1975), and can identify their mother over other females after only two days (Bushnell 1989). The ability to discriminate between faces allows us to establish individual identity and plays an important role in human bonding and social exchange. The lack of ability to recognise peers by their faces often leads to struggles with social isolation and mental health issues. It is a fundamental and vital part of human behaviour, one which develops so early in our development, that we almost take it for granted. Despite it being pivotal to our success as a social species, we understand little of how the brain recognises faces, or which neuro-molecular pathways are involved in this essential process.
Super recognisers can recognise faces they have only glimpsed before. Most people can recognise about 20% of the faces they see, whereas a super recogniser can remember up to 95%. This super ability is thought to occur in less than 1% of the population.
Face recognition plays an important role in the Metropolitan Police who use super recognisers to identify suspects from CCTV footage. Following the 2011 London riots, a single super recogniser identified 190 suspects from grainy images and footage, in stark comparison with the Met’s state-of-the-art computer software that only successfully identified one.
In collaboration with Dr Josh Davis (University of Greenwich), we are studying the genetics of individuals with extreme face recognition ability - super recognisers.
If you think you might be a super recogniser, click here to take the test http://superrecognisers.com/
2017 - Oxford Brookes University Santander Research Scholarship Award Scheme - £1500
2011-2015 - Dora Lush Biomedical Post Graduate Research Scholarship, National Health and Medical Research Council - AU$78,750
2011 - 2015 - Australian Mitochondrial Disease Foundation scholarship top-up award - AU$15,750
2011-2014 - Australian Mitochondrial Disease Foundation student travel award - AU$9000
Language development builds upon a complex network of interacting subservient systems. It therefore follows that variations in, and subclinical disruptions of, these systems may have secondary effects on emergent language. In this paper, we consider the relationship between genetic variants, hearing, auditory processing and language development. We employ whole genome sequencing in a discovery family to target association and gene x environment interaction analyses in two large population cohorts; the Avon Longitudinal Study of Parents and Children (ALSPAC) and UK10K. These investigations indicate that USH2A variants are associated with altered low-frequency sound perception which, in turn, increases the risk of developmental language disorder. We further show that Ush2a heterozygote mice have low-level hearing impairments, persistent higher-order acoustic processing deficits and altered vocalizations. These findings provide new insights into the complexity of genetic mechanisms serving language development and disorders and the relationships between developmental auditory and neural systems.
Robinson Crusoe Island is a geographically and socially isolated settlement located over 600km west of the Port of Valparíso, Chile. An unusually high incidence (30%) of the Chilean equivalent of developmental language disorder (TEL) has been reported in Islander children, with 90% of these affected children found to be direct descendants of a pair of original founder-brothers, therefore strongly suggesting a shared genetic basis.
Here we utilise whole-genome sequencing to investigate potential underlying variants in a panel of thirty-four genes known to play a role in language disorders, in seven TEL affected and ten unaffected islanders. We use this targeted approach to look for rare, shared variants that may underlie the diagnosis of TEL in a Mendelian genetic model. We go on to test whether the overall burden of rare variants is enriched in individuals affected by TEL or with Islanders related to the founder-brother lineage.
In the absence of explanatory rare variants, we further investigate these candidate genes within a complex model of inheritance, where inheriting a small number of moderate impact common variants may increase susceptibility of developing TEL. We examine if any variants segregate with affection status or with founder-brother-related status, and therefore may increase risk of developing a language disorder. Finally, we perform a pooled, gene-based tests to evaluate relationships between combined variation across candidate genes and TEL affection status.
Here we report a comprehensive examination of genes directly implicated in language-related mechanisms to identify ‘low hanging fruit’ of causative monogenic Mendelian variants, and complex association model of increased susceptibility in developmental language disorder found on Robinson Crusoe Island.
This chapter focuses on the understanding of the role of genetics in language and explores how genetics contribute to language, and shows how new genetic techniques can offer inroads into the molecular basis of language acquisition. It discusses some of the key findings of gene x environment studies and provides a snapshot of the understanding in the field, considering some of the limitations of the type of study design. The chapter describes the field of play in the genetics of language acquisition and explains the heritability of language and the role of family and twin studies in the understanding of language. It also explores the inheritance mechanisms that are implicated in language development. The chapter considers how modern DNA sequencing approaches are revolutionizing the field of language genetics. Heritability studies have provided many key insights into the genetics of both language acquisition and language disorders. Insights into mechanisms can also come from the opposite end of the language ability spectrum.
Developmental Language Disorders
Next generation sequencing