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February 22, 2021
Co-hosted with the Social Exposome Research Cluster
President Santa Ono, who discovered the NFX1 gene, of which NFXL1 is a paralogue, will introduce Dr. Newbury.
Abstract: UNICEF, UNESCO and the World Health Organization include communication in their core life skills. Deficits in communication disrupt social, emotional and educational development and increase the risk of behavioural disorders, unemployment and mental health issues. Yet, research in this area is under-represented and we still have little understanding as to the causes of communication disorders and their relationships to other developmental delays and behavioural problems. It is likely that genetic factors contribute to communication disorders but we expect there to be many contributory genetic variants, each with only a small risk. Some people inherit certain combinations of these risk variations that, when accompanied by particular environmental factors, make them sensitive to language impairment.
My presentation today will focus upon our study of a unique Chilean population who inhabit the Robinson Crusoe Island. This Island community was colonised in 1876 by 64 individuals from whom the majority of the current population (633 people) are descended. In 2008, researchers from the University of Chile noted that approximately 60% of children living on this island were affected by language disorder. They further described how the majority of language impaired individuals were descended from two brothers who formed part of the original colonising party. We have been working with researchers from Chile and with the Islanders to form a study of the genetic origins of the Islanders and to discover genetic variants that might explain the unusually high incidence of language impairment in this population. Our investigations have led to the identification of rare variants in the NFXL1 gene, which encodes a transcription factor that is highly expressed in the cerebellum. In my talk, I will give an overview of the population and the findings of our genetic research. I will discuss how genomic studies can help to better understand the molecular mechanisms of speech and language and, ultimately, may direct the targeting of interventions for affected individuals.
Speaker bio: Dr Dianne Newbury is a molecular geneticist who studies genetic contributions to childhood neurodevelopmental disorders. Her investigations specifically focus around speech and language impairment and its relationship to disorders such as dyslexia. Dianne has a lab at Oxford Brookes University. Her work is funded by the Economic and Social Research Council, the Leverhulme Trust and the British Academy.