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Updated: Aug 20, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
[New strategies in schizophrenia: impact of endophentotypes]
Carolin Opgen-Rhein1, Andres Neuhaus, Carsten Urbanek
1Klinik und Hochschulambulanz für Psychiatrie und Psychotherapie, Charité - Universitätsmedizin Berlin. carolin.opgen-rhein@charite.de
Abstract:
Despite the compelling evidence for a strong heritability of schizophrenia, the aetiology and genetic underpinnings of this disabling disease still remain unclear. Reasonable explanations for current problems in identifying candidate genes for schizophrenia are the complexity of its genetic background as well as the heterogeneity of the clinical appearance of this disease. For a higher efficiency in genetic investigations, a new approach came up which defines clinically distinct traits much more precisely: the so called endophenotype concept. Schizophrenic patients suffer from marked cognitive deficits. These deficits are closely related to the neurobiological basis of the disease, exhibit a high negative impact on clinical outcome, and may serve as endophenotypes for genetic studies. Identification of neurocognitive endopenotypes is usually performed in terms of a combination of neuropsychological tests and neurophysiological measurements. Thus, future genetic investigations as well as psychosocial and psychopharmacological therapy strategies will focus on the severity and potential therapeutic modification of cognitive deficits in order to improve psychosocial reintegration of schizophrenic patients in the long-term.
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