Roger H. Reeves, Ph.D.

Dr. Reeves and his lab team complement genetic analyses in human beings with the creation and characterization of mouse models to understand why and how gene dosage imbalance disrupts development in DS. Their models then provide a basis to explore therapeutic approaches to amelioration of DS features. They use chromosome engineering in ES cells to create defined dosage imbalance in order to localize the genes contributing to these anomalies and to test directly hypotheses concerning Down syndrome "critical regions" on human chromosome 21.

Dr. Reeves’ lab has developed quantitative phenotypic assays to give a precise and sensitive readout of the relative effects on phenotype when overlapping subsets of genes are at dosage imbalance. Developmental analyses of these traits are underway to identify the timing and location of divergence between trisomic and euploid fetuses.

The Reeves Laboratory has used mouse models to:

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1. Validate epidemiological findings suggesting a lower incidence of cancer in Down syndrome and to identify the candidate genes
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2. Identify direct parallels in the development of the craniofacial skeleton in Down syndrome and trisomic mice
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3. Establish a deficit in cranial neural crest as the (initial) basis for the hypomorphic craniofacial skeleton skeleton
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4. Discover the basis for and potential “treatment” of a fundamental structural deficit in the trisomic brain
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