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Emory Wins $8M Grant for Sequencing Study of FMR1 Gene, Fragile X Variations

NEW YORK (GenomeWeb) – Emory University researchers have received a roughly $8 million grant from the National Institutes of Health to fund a study that will use whole-genome sequencing to investigate modifier genes that predispose people with FMR1 gene mutations to specific clinical outcomes.

NIH said yesterday the project at the Emory University School of Medicine's Department of Human Genetics is one of three new projects funded with up to $35 million through the Centers for Collaborative Research on Fragile X program.

Led by Emory genetics department Chair Stephen Warren, the study will try to find out why individuals who have the FMR1 gene mutations that cause Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome (FXTAS), and Fragile X-associated primary ovarian insufficiency (FXPOI) experience these different symptoms. His team will use genome sequencing to identify whether other genes also may affect an individual's likelihood of developing these health problems that are associated with FMR1 mutations. They plan to examine epilepsy in boys who have Fragile X, FXTAS, which tends to present in older men, and FXPOI, which only occurs in girls and women.

Through three projects, the Emory team will perform whole-genome sequencing on 600 patients to identify the modifier genes that predispose people with FMR1 mutations to specific outcomes.
One project will sequence 200 males with Fragile X, half of whom have epilepsy, to identify genomic variations that cause epilepsy in people with the syndrome. Carriers of one form of the FMR1 gene have a 15 percent chance of having epilepsy. Those carrying another form of the gene, the permutation, have a 15 percent chance of having FXPOI or a 30 percent chance of developing FXTAS.

By identifying the genomic variants that cause these different symptoms or relate to the severity of medical outcomes for FMR1 carriers, Warren and his team hope to provide insights into the mechanisms behind these conditions that could lead to a diagnostic test to predict risk for contracting them. The Emory group also thinks that identifying these genes could lead to insights into other forms of idiopathic epilepsy, ovarian dysfunction, and neurodegenerative disorders.

The three, five-year NIH grants are renewal funding for the Fragile X centers, which originally received awards in 2000.

Along with Emory, the other two centers receiving funding are located at the University of Texas Southwestern Medical Center, which is studying brain circuits in mouse models and people to try to determine the causes of heightened sensitivity to sound, and the University of Massachusetts Medical School, Worcester, which is studying three molecules that appear to play important underlying roles in Fragile X syndrome.