Jóhann Torfi Ólafsson hleypur fyrir frænku sína, Guðrúnu Sædal, í Reykjavíkur maraþoninu 2012. Fjölskyldan stofnaði rannsóknarsjóð Guðrúnar fyrir skemmstu og hvetur hann alla sem geta að hjálpa til.

http://hlaupastyrkur.is/hlaupid/keppandi?cid=6664

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Following technical and methodological improvements of the last decade, the underlying genes of a number of syndromes involving severe intellectual disability resembling Angelman and Rett syndromes have been identified. In order to keep track with these new entities, this reprint of Molecular Syndromology 2011, Vol. 2, No. 3-5 provides comprehensive reviews of the state of clinical and genetic knowledge for the ‘old’ entities of Angelman and Rett syndromes, as well as the newer syndromes ...
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Rett syndrome (RTT) is caused by loss-of-function mutations in the X-linked gene MECP2 coding for methyl CpG-binding protein 2 (MeCP2). This protein can act as transcriptional repressor, and we showed in a previous study that glucocorticoid-inducible genes are up-regulated in an RTT mouse model and that these genes are direct MeCP2 targets. Here, we report that pharmacological intervention with the glucocorticoid system has an impact on the symptoms and lifespan in an RTT mouse model. Our dat...
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