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Ph.D. Program > Ph.D. Students > Sonia Baloni
Anne Kästner |
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EDUCATION |
Anne Kästner |
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College / University |
Affiliation-Address: |
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PROJECTS / RESEARCH |
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Titel of Thesis "Influence of common gentic variations in candidate genes on phenotypes of psychiatric disorders." Autism and schizophrenia share a number of features, ranging from clinical appearance to etiological factors. In the last years, mutations of genes encoding various synaptic proteins, e.g. neuroligins, neurexins, shank, have been identified that are associated with familial forms of autism. These mutations cause mostly severe autism with the core symptoms impaired communication and social behaviour, highly restricted interests, cognitive deficits, and repetitive activities. Also, mutations in other genes, e.g. encoding transcription factors, like MECP2 or FOXP2, have been associated with autistic behaviors. In contrast to mutations, 'normal' variability of these genes might contribute to milder autistic personality features both in healthy and ill persons. An ideal set-up to test this hypothesis and to understand the biological contribution of genes to a disease phenotype, schizophrenia, is the GRAS (Göttingen Research Association for Schizophrenia) data collection, specifically designed to allow the association of genetic information with quantifiable phenotypes in a procedure called PGAS (phenomics-based genetic association study). The PhD project will deal with 'normal' variability of synaptic proteins or transcription factor encoding genes and its consequences for the schizophrenic phenotype. The work will be performed in the Division of Clinical Neuroscience, Max Planck Institute of Experimental Medicine, Göttingen, Germany. |
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SCIENTIFIC INTERESTS AND GOALS |
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My interests focus on the genetic and neurobiological underlyings of psychiatric diseases, especially autism and schizophrenia. I am fascinated by the interdisciplinary nature of translational neuroscience trying to transfer findings from cell to mouse to human and back again. |
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PUBLICATIONS |
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Kästner A, Grube S, El-Kordi A, Stepniak B, Friedrichs H, Sargin D, Schwitulla J, Begemann M, Giegling I, Miskowiak KW, Sperling S, Hannke K, Ramin A, Heinrich R, Gefeller O, Nave KA, Rujescu D, Ehrenreich H. Common variants of the genes encoding erythropoietin and its receptor modulate cognitive performance in schizophrenia. Mol Med 2012 Hagemeyer N, Goebbels S, Papiol S, Kästner A, Hofer S, Begemann M, Gerwig UC, Boretius S, Wieser GL, Ronnenberg A, Gurvich A, Heckers SH, Frahm J, Nave KA, Ehrenreich H: A myelin gene causative of a catatonia-depression syndrome upon aging. EMBO Mol Med 2012; 4(6):528-39 Ehrenreich H, Kästner A, Weissenborn K, Streeter J, Sperling S, Wang KK, Worthmann H, Hayes RL, Von Ahsen N, Kastrup A, et al. Circulating damage marker profiles support a neuroprotective effect of erythropoietin in ischemic stroke patients. Mol Med 2011 Papiol S, Malzahn D, Kästner A, Sperling S, Begemann M, Stefansson H, Bickeböller H, Nave KA, and Ehrenreich H. 2011. Dissociation of accumulated genetic risk and disease severity in patients with schizophrenia. Translational Psychiatry 2011: 1 Ribbe K, Friedrichs H, Begemann M, Grube S, Papiol S, Kästner A, Gerchen MF, Ackermann V, Tarami A, Treitz A, et al. 2010. The cross-sectional GRAS sample: a comprehensive phenotypical data collection of schizophrenic patients. BMC Psychiatry 10:91 |