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21 July 2005
Emory University Scientists Hope to Increase Awareness of Genetic Disease
Georgia Governor Sonny Purdue recently proclaimed July 22 Fragile X Awareness Day. Faculty at Emory University lead the world in research efforts surrounding fragile X syndrome, the most frequent inherited form of mental retardation. They hope increased awareness of the condition will lead to more interest and funding that could ultimately lead to a cure.

"It's important that we continue to increase fragile X syndrome awareness and seek research funding to carry out our mission to find effective treatments and ultimately cures for this condition," says Stephen T. Warren, PhD, chair of the department of human genetics at Emory University School of Medicine.

In 1991, Dr. Warren led an international research team that discovered the FMR1 gene, which is responsible for fragile X syndrome. He and other Emory School of Medicine scientists were among the first to develop genetic tests to diagnose the syndrome. Within the past decade genetic counselors have been able to help carriers of FMR1 predict their probability of giving birth to a child affected by fragile X.

"As the general public becomes more aware of how fragile X and FMR1 associated disorders affect the entire family's personal medical health, we expect this will increase interest in research as well as funding," says Dr. Warren.

Today, Emory University has the world's largest National Institutes of Health (NIH)-funded research program on the disorder. In 2003, Emory University received approval from the National Institute of Child Health and Human Development (NICHD) to establish the joint Emory/Baylor National Fragile X Center, one of three inaugural centers in the country. Dr. Warren, along with Stephanie Sherman, PhD, also an international authority on fragile X syndrome, conduct ongoing research to gain new insight into the disorder. Dr. Sherman, professor of human genetics, Emory University School of Medicine, and Emory genetic counselor Aimee Anido, MS/CGC wrote the governor to encourage the Fragile X Awareness Day proclamation.

A specialized fragile X clinic recently opened in 2004 to screen children, provide genetic counseling for parents who are carriers of the fragile X gene, and provide support in getting medical and social resources these children and adults need.

Jeannie Visootsak, MD, FAAP, is a developmental pediatrician who works with patients in the clinic. Dr. Visootsak works with a clinic team that focuses on patients from newborn to age 18.

"Even though fragile X syndrome is the most common inherited cause of mental retardation, it's often under-diagnosed or misdiagnosed," says Dr. Visootsak, assistant professor, department of human genetics, Emory University School of Medicine. "Since physical appearances are subtle and may become more apparent with advancing age, pediatricians should strongly consider the diagnosis of fragile X syndrome in any infant or toddler with developmental delays. It's a simple test that can change the lives of many individuals who have this genetic condition."

Emory University scientists are close to identifying therapies that may help improve the cognitive abilities of children with fragile X syndrome. Also, scientists have discovered that there are variations in the effects of the FMR1 gene. Sometimes in some individuals, it causes autism and other mental problems, and in others, it causes problems with ovarian failure in some of the carriers of the gene who do not develop neurological symptoms.

Approximately 3,500 individuals in Georgia have fragile X syndrome although many others are affected chromosomally. Both males and females are carriers of the gene, but more boys than girls exhibit symptoms of the syndrome.

© Emory University 2018

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