研究领域

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Our research interests are focused on understanding the pathogenesis of neurodevelopmental disorders including autism spectrum disorders and Rett syndrome. These investigations also have broad implications for other neurological disorders and providing insights into the fundamental neurobiology. Rett syndrome is a devastating autism spectrum disorder caused by mutations in the X-linked gene encoding methyl-CpG-binding protein 2 (MeCP2). Research in the lab aims to identify the molecular, cellular and neural network alterations that lead to behavioural manifestations in these disorders. Our research discovered that the most common missense mutation in RTT leads to RTT-like phenotypes by preventing MeCP2 from binding to methylated DNA and a concomitant reduction in MeCP2 protein stability (Goffin et al, Nature Neuroscience 2012). We also demonstrated that mouse models of Rett syndrome exhibit age-dependent deficits in neural network responses to auditory stimuli (Goffin et al, Nature Neuroscience 2012). We went on to dissect the cellular origins for these alterations by deleting MeCP2 from different neuronal populations and studying the corresponding changes in brain function (Goffin et al, Nature Neuroscience 2014). Current research in the lab is aimed at further investigating these changes and whether we can identify mechanisms to ameliorate these deficits.