Single Gene Disorders Home > Fragile X Syndrome > CDC Priorities

What is CDC Doing About FXS?

In 2005, CDC received money from Congress to start public health activities for FXS. CDC is working with the National Fragile X Foundation and other partners to find out more about FXS. Current CDC priorities for FXS are to:

• Conduct epidemiologic research - collect information on topics such as:

  	How common are the fragile X full mutation and premutation?
  	Are the full mutation and premutation equally common among racial and ethnic groups?
  	How often do premutation carriers have certain health problems (FXTAS, POF, and cognitive and mood disorders)?
  	What are the risk factors for premutation carriers to develop health problems?

• Improve screening and diagnosis

  	What are the early signs and symptoms of FXS?
  	Are tests available for effective early screening?

• Improve services to patients and families - outreach, education and awareness

  	What medical and social services are patients and their families receiving?
  	Do different populations receive different care?
  	What services do patients and their families need that are hard to get?

Currently, CDC and its partners are involved in the following projects that are trying to answer some of the previous questions:

• Fragile X syndrome cascade testing and genetic counseling protocols
• Development of a newborn screening test for fragile X syndrome
• Single gene resource center – fragile X syndrome