Stephanie L. Sherman, Ph.D.
Department of Human Genetics
Dr. Sherman's genetic epidemiology and population genetics laboratory is involved in genetic epidemiological studies to examine i) the etiology, distribution and control of disorders in groups of relatives, ii) inherited causes of disorders in human populations, and iii) complex interaction between genes and environment producing human disorders. Two major research projects are currently being conducted. The first involves trisomy 21, the chromosome abnormality responsible for over 95% of Down syndrome (DS). This syndrome is the most common identified cause of intellectual and developmental disabilities (IDD) in humans and a major cause of miscarriages in older women. In addition to IDD, individuals with DS have characteristic medical findings that significantly jeopardize their health and survival, including congenital heart defects, gut abnormalities and leukemia. We have established a large multi-site study of Down syndrome live births and their parents and have combined cytogenetic, molecular and epidemiological tools to elucidate the cause of the abnormal segregation of chromosome 21 and the factors that influence its frequency. In addition, we have developed a novel approach to identify genes that are involved in the birth defects and disorders that occur in DS individuals. The results of these studies may point to new strategies of clinical intervention and/or prevention. The second project concerns fragile X syndrome, the most common inherited form of IDD, due to a repeat sequence mutation in the FMR1 gene. Recently, we have focused on the other mutational forms of this gene and their phenotypic outcomes. We are examining neuropsychological measures, neurological profiles and ovarian function among premutation carriers. We now know these individuals are at risk for associated late onset disorders. Our goal is to identify molecular and environmental risk factors that increase the risk and severity of these significant disorders.
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