Registry Accelerates Fragile X Syndrome Research

Introduction

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.

Main Item

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.

The registry, funded by the National Institute for Child Health and Human Development, will offer affected families the opportunity to take part in research at both centers on a wide range of topics, including family adaptation, brain development, language and genetic studies, Vial says.

Behavioral and educational studies may include parent surveys, individual assessments and observations. Medical studies may involve things such as DNA testing, brain imaging and clinical trials.

"Promising pharmacological and psychosocial treatments for fragile X syndrome are emerging, but their evaluation has been hindered by a lack of access to large and diverse samples of research participants," says Leonard Abbeduto, associate director of behavior science and director of the Center for Excellence in Developmental Disabilities at the Waisman Center.

"We are taking steps to address this problem and are serving as a national demonstration project."

The registry is expected to set the stage for development of shared research registries for other neuro-developmental disorders such as Down syndrome, Vial says.

For more information or to enroll, visit fragileXregistry.org

Related Information

• Study Shows Promise for New Drug to Treat Fragile X
• Defining Fragile X Syndrome
• Could Fragile X Be Key to Autism Puzzle?
• Fragile X Syndrome: Genetic Clues Found
• Fragile X Study Provides Hope for Autism Treatment
• Fragile X Syndrome Drug being Evaluated

Attribution/Source(s):
This quality-reviewed publication was selected for publishing by the editors of Disabled World (DW) due to its significant relevance to the disability community. Originally authored by The Waisman Center, and published on 2010/10/06 (Edit Update: 2022/07/13), the content may have been edited for style, clarity, or brevity. For further details or clarifications, The Waisman Center can be contacted at fragileXregistry.org. NOTE: Disabled World does not provide any warranties or endorsements related to this article.