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Sequence based strategies to identify genetic variation associated with mental retardation and schizophrenia

Final Report Summary - GENOVAR (Sequence based strategies to identify genetic variation associated with mental retardation and schizophrenia)

The goal of this project was to use sequence based strategies to identify genetics factors involved disorders of the brain, specifically schizophrenia and intellectual disability. Within the project, both sporadic cases of the disorder (healthy parents, affected offspring) and larger families with multiple affected individuals were analyzed. The development of sequence based screening of children with intellectual disability has been highly successful. Many patients have been provided with a molecular diagnosis that they would not have gotten through the regular health care system. The results of these studies also led to the identification of several new genes involved in intellectual disability. Hence, the results have therefore had important impact for patients, for knowledge transfer to the clinic and for the understanding of pathways involved in brain development. The analysis of larger families with several individuals affected by schizophrenia turned out to be more genetically complex than anticipated and this aspect of the research was less successful. Instead, efforts were then focused on characterization of gene activity in brain tissue from schizophrenia patient and matched controls samples (post-mortem samples). Here, we have identified several pathways important in schizophrenia pathology and we believe that our results can be used to understand the different between gene activity linked to causes of the disorder as compared to gene activity changes that are the result of the disorder. These results will be important for understanding the pathology of schizophrenia.