The Fragile X Factor

The National Institutes of Health (NIH) has awarded a five-year grant of more than $9 million to Emory researchers to study fragile X syndrome–associated disorders and work toward developing effective treatments.

The grant is one of three nationally to support the Centers for Collaborative Research in Fragile X, and a renewal of Emory’s National Fragile X Syndrome Research Center that has been continuously funded by NIH since the inception of such centers ten years ago.

Fragile X syndrome is the most common form of inherited intellectual and developmental disabilities and often results in emotional and behavioral problems; as many as 30 to 50 percent of people with fragile X syndrome also have features of autism spectrum disorders.

Fragile X syndrome, fragile X–associated tremor/ataxia syndrome (FXTAS), and fragile X–associated primary ovarian insufficiency (FXPOI) result from a variety of mutations in the FMR1 gene.

FMR1 normally makes a protein that helps create and maintain connections among cells in the brain and nervous system.

The Emory research team plans to perform whole genome sequencing on six hundred patients to find modifier genes that predispose people with mutations in the FMR1 gene to epilepsy, FXTAS, or FXPOI.

“By identifying genome variants that trigger another disease or increase the severity of the associated medical outcome among carriers of a FMR1 gene mutation, we will gain insight into the mechanisms of disease and potentially be able to develop a diagnostic test that can predict those at risk prior to clinical onset,” says principal investigator Stephen T. Warren, William P. Timmie Professor of Human Genetics and Charles Howard Candler Chair of Human Genetics at the School of Medicine.

“We also expect the genes we identify in the affected systems will provide insight into other forms of epilepsy, ovarian dysfunction, and neurodegenerative disorders.”