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Guest lectures
GL.03 Molecular windows into speech and language disorders
  1. S E Fisher

    Simon E Fisher is director of the Max Planck Institute for Psycholinguistics in Nijmegen, the Netherlands and an honorary research fellow at the Wellcome Trust Centre for Human Genetics (WTCHG) in Oxford, UK. Simon obtained his Natural Sciences degree at Trinity Hall, Cambridge University, followed by a DPhil at the Genetics Unit of the Biochemistry Department, Oxford University. For his postdoctoral research he joined Prof. Anthony Monaco's group at the WTCHG in Oxford, and worked on identifying genetic factors that contribute to developmental disorders such as dyslexia and speech and language impairments. In 2002, Simon was awarded with a Royal Society Research Fellowship and became head of his own laboratory at the WTCHG, where he used state-of-the-art methods to uncover how language-related genes influence the brain. From 2007 to 2010 Simon was Isobel Laing Fellow in Biomedical Sciences at Oriel College, Oxford. In 2010 he was appointed director of a new department specifically devoted to “Language and Genetics” at the Max Planck Institute in Nijmegen. Simon is author of over 70 journal articles, including peer-reviewed research in Nature, Nature Genetics, New England Journal of Medicine and Cell. His awards include the Francis Crick Prize Lecture in 2008, and the inaugural Eric Kan del Young Neuroscientists Prize in 2009.Simon's research involves a strong interdisciplinary remit, integrating data from genetics and genomics, psychology, neuroscience, developmental biology and evolutionary anthropology.


People who carry rare heterozygous mutations disrupting the FOXP2 gene have problems mastering the complex sequences of mouth movements needed for speech, along with deficits in many aspects of expressive and receptive language. The gene encodes a highly conserved transcription factor that helps regulate development and function of neuronal subpopulations in a wide range of non-speaking vertebrates, although evidence suggests that its role(s) may have been modified during human evolution.

It is emphasised that FOXP2 is not the mythical “gene for speech”, but represents one piece of a complex puzzle. I will describe how FOXP2 can be used as a unique window into key neurogenetic pathways via an array of complementary approaches. For example, using functional genomic screening of human neurons grown in the laboratory, we identified the CNTNAP2 gene (a member of the neurexin superfamily) as a downstream target directly regulated by FOXP2. Intriguingly, we found that CNTNAP2 is itself associated with common cases of language impairment; this target has also been implicated in language delays of autistic children. High-throughput screening has enabled us to isolate additional putative targets of FOXP2, including multiple genes involved in neurite outgrowth and synaptic plasticity. Moving to animal models of FOXP2 dysfunction, we have shown that point mutations implicated in human speech deficits yield impaired motor-skill learning in mutant mice. Electrophysiological recording suggests that this may be mediated by altered plasticity of Foxp2-expressing circuitry. Together with findings from other model systems, these data indicate that the contributions of FOXP2 to human speech and language are built on evolutionarily ancient roles in neural circuits involved in sensorimotor integration and motor-skill learning.

Overall, this work demonstrates how we can begin to bridge gaps between molecules, neurons and the brain, helping us to build more sophisticated models of the relationships between genes, speech and language.

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