The NICHD conducts and supports research on many aspects of Fragile X syndrome, including its symptoms and how it might be prevented or treated. NICHD-supported researchers discovered the genetic cause for Fragile X syndrome in 1991, and ongoing studies are investigating the far-reaching effects of the gene on development.
Some studies focus on families with known FMR1 mutations and premutations to identify associations with other diseases or conditions. Researchers are also seeking easier, less expensive, and more accurate screening and diagnostic tests that can provide detailed information on a person’s FMR1 status. NICHD researchers are also studying associated disorders, including FXPOI and FXTAS.