Gene Expression in Young Boys with Down Syndrome and Fragile X syndrome

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This project investigates the patterns of gene expression, and associated molecular events, in a sample of boys with genetic mental retardation (MR). We intend to identify profiles of gene expression that are common to the two major genetic disorders associated with MR, specifically Down syndrome (DS) and Fragile X syndrome (FraX). This study will enroll boys between the ages of 5 and 10 who have Down syndrome, Fragile X syndrome, or typical development.

Principal Investigator:  Dr. Walter Kaufmann

For questions or enrollment, please call the Center for Genetic Disorders of Cognition and Behavior (GCB Center) at 443-923-7600. More information can also be found at our website:

This study was approved by the Johns Hopkins Medicine IRB on October 5, 2006.

This study is funded by the General Clinical Research Center (NIH) of the Johns Hopkins Medical Institutions.

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Last revised 04-Jan-2009 by Steven Leber