Sherman Laboratory

The Sherman Lab revolves around two syndromes that are related by their phenotype consequence,mental retardation, but not their genetic etiology, namely Down syndrome (DS) and Fragile-X syndrome (FXS). For both, we use genetic epidemiological approaches to understand the underlying mechanisms leading to each syndrome (nondisjunction for DS and repeat instability for the FMR1 gene for FXS), and to identify genetic and environmental factors that cause the complex phenotype consequences observed in both disorders. In addition, other mutational forms of the fragile-X mutation lead to an increased risk for premature ovarian failure in women and an increased risk for a tremor/ataxia in primarily older men. Thus, we are conducting family studies to identify the risk factors associated with these significant phenotype consequences.