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Fragile X-associated primary ovarian insufficiency is a poorly understood cause of infertility and ovarian insufficiency. Studies to date in humans have been limited for the most part to studies of the epidemiology and natural history of the condition in women. However, related Repeat Expansion Diseases as well as cell and animal model systems are beginning to provide vital insights into the mechanisms that might be responsible for disease pathology.

The use of model organisms is essential in order to understand the pathogenesis of many types of human disease, and this is particularly true for the study of genetic diseases such as fragile X syndrome and fragile X-associated tremor/ataxia syndrome (FXTAS). In reverse genetics, the functional study of a gene starts with the question of how a possible phenotype may derive from a specific genetic sequence (disease-causing mutation in a gene). As a first step, a gene function is purposefully altered and the effect on the normal development and/or behavior of the model organism is analyzed. In addition to providing knowledge about the cellular and molecular mechanisms underlying specific genes and their functions, animal models of human disease also provide systems for developing and validating therapeutic strategies.