At the University of Kansas, we seek to identify the earliest indications of disorders associated with genetic mutation of the FMR1 gene. Our goal is to help families by identifying indicators for Fragile X associated disorders, including Fragile X Tremor Ataxia Syndrome (FXTAS) and Fragile X Premature Ovarian Insufficiency (FXPOI).
Fragile X syndrome type A (FXS or FRAXA) is the most common inherited cause of intellectual disability. Fragile X premutation carriers are people who are likely to have a child or grandchild with Fragile X Syndrome, but they do not have Fragile X Syndrome themselves.
At this time, there is no clear way to diagnose people who are at risk to develop Fragile X associated disorders. We are striving to change that by studying the brain and movement. If you have a close family member who has been diagnosed with Fragile X Syndrome, you may be eligible to participate in our research.