Project Summary

Elliot S. Gershon, M.D. (Distinguished Investigator 2006) of the University of Chicago, notes that genomic disorders are chromosomal rearrangements that occur in multiple cases. The rearrangements cause dosage imbalance in one or more genes, which leads to illness (one example is the 22q11 deletion syndrome where 30percent affected have schizophrenia or bipolar disorder). Small stretches of nearly identical genomic DNA in the parents (segmental duplication) predispose chromosomal rearrangements during the development of sperm cells or ova. There are many points in the genome where duplications and deletions are inherited as a staple polymorphism without known phenotypes. However, several such events predispose to psychiatric disorders, and Dr. Gershon hypothesizes there are additional, currently unrecognized, genomic rearrangements in association with bipolar disorder and/or schizophrenia. He currently has one family with schizophrenia showing a small duplication on chromosome 1, suggesting a new disorder. Using a new technique called array comparative genomic hybridization (array CGH), Dr. Gershon will compare two patient groups to determine whether microdeletions and duplications are likely to be found as part of the genetic etiology of bipolar disorder and schizophrenia.

Program Area: MULTIPLE FOCUS\Mood Disorders/Schizophrenia

Search Again