Project Summary

Russell M. Margolis, M.D. (Distinguished Investigator 2007) of Johns Hopkins University, aims to study the relationship between genomic copy number variation and its role in schizophrenia. Dr. Margolis has studied for a long time the relationship of unstable DNA to the etiology of psychiatric and neuropsychiatric disorders; with a particular focus on triplet repeats. There is now extensive interest in the contribution of somewhat larger genomic copy number variations (clkb to >10Mb in length) to human variation and disease. Dr. Margolis hypothesizes that uncommon or unique genomic variations in this size range, too small for detection by routine karyotyping, may be major contributors to the risk of schizophrenia in some individuals. He proposes to preliminarily test this hypothesis by searching for variations in genomic copy number in a specially selected schizophrenia population using a powerful whole genome SNP-based array assay.

Program Area: SCHIZOPHRENIA/PSYCHOTIC DISORDERS\Schizophrenia

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