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Emily Allen

  • Department of Human Genetics
    Associate Professor
  • 615 Michael Street
    Suite 331
    Atlanta, GA 30322
Head shot of Emily Allen

Overview

My research interests focus on two major areas: understanding the phenotypic consequence of carrying the premutation form of the FMR1 gene and understanding the risk factors leading to nondisjunction in Down syndrome cases. I work with Dr. Stephanie Sherman on these two distinct population-based studies.

Fragile X syndrome is an inherited form of mental retardation that is a result of the silencing of the FMR1 gene. In more than 98% of cases, the silencing is caused by an expansion of a CGG repeat in the 5 untranslated region of the gene to greater than 200 repeats. Premutation carriers, those with 55-199 repeats, were initially thought to have no phenotypic consequence. There is now convincing evidence of several premutation-associated phenotypes: female premutation carriers are at increased risk for primary ovarian insufficiency (FXPOI) and older premutation males, and some females, are at increased risk for fragile X-associated tremor/ataxia syndrome (FXTAS). We are interested in studying the features of these known disorders in conjunction with neuropsychological measures and molecular tests.

Down syndrome is caused by abnormal segregation of chromosome 21 during the formation of eggs and sperm in approximately 95% of cases. Our lab has established a large population-based study of Down syndrome live births and the parents. We have combined cytogenetic, molecular, and epidemiological measures to understand the cause of the chromosomal error.

Areas of Specialization

-Genetic causes of intellectual and developmental disorders
-Nondisjunction of human chromosomes
-Primary ovarian insufficiency
-Genetic mapping of complex traits
-Fragile X syndrome
-Down syndrome

Academic Appointment

  • Assistant Professor, Human Genetics, Emory University

Education

Degrees

  • PhD from Emory University
  • B.S. from University of Georgia

Research

Publications

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