New registry to accelerate research on fragile X syndrome

As researchers delve further into the genetic basis for disease, they face a conundrum: finding enough affected people who can fill out a true picture of mutations that can vary from one person to another. A case in point is fragile X syndrome, a genetic mutation that affects approximately one infant boy in 3,600 births, and one infant girl in 4,000-6,000 births. Fragile X syndrome is the leading inherited cause of intellectual disability. Caused by a repetitive genetic error on the X chromosome, it is passed through families and can occur more frequently or severely in future generations. Beyond causing cognitive difficulties, scientists have in recent years discovered that people who carry the fragile X gene mutation can develop associated disorders, such as early menopause in women, and a neurological condition that mimics the movement disorder Parkinson's disease in adults as they age. A new research registry, growing from a collaboration between the Waisman Center at the University of Wisconsin-Madison and the Carolina Institute on Developmental Disabilities at the University of North Carolina-Chapel Hill, is an attempt to "to streamline the process of connecting scientists with a large number of families affected by fragile X syndrome and its associated conditions," says Susan Vial, Waisman's coordinator for the registry. Another objective is to help federally funded research centers work together and reduce the number of separate registries.