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The Reeves Lab complements genetic analyses in human beings with the creation and characterization of mouse models to understand why and how gene dosage imbalance disrupts development in Down syndrome (DS). These models then provide a basis to explore therapeutic approaches to amelioration of DS features. We use chromosome engineering in embryonic stem cells (ES) to create defined dosage imbalance in order to localize the genes contributing to these anomalies and to directly test hypotheses concerning Down syndrome "critical regions" on human chromosome 21.
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