National Fragile X Awareness Day is Sunday, July 22. This is an opportunity for physicians, researchers, families and advocacy organizations to highlight the need for increased awareness and research funding leading to a cure for fragile X syndrome, the most common inherited form of mental retardation. Other fragile X mutation disorders include fragile X-associated premature ovarian failure and fragile X-associated tremor/ataxia syndrome. Scientists at Emory University School of Medicine have the largest NIH-funded fragile X research program in the country.
"We have made tremendous progress toward a cure for fragile X syndrome over the past two decades, but it is critical that we continue the research momentum to develop effective therapies for patients and their families who may be carriers," says Stephen T. Warren, PhD, chair of the Department of Human Genetics at Emory University School of Medicine.
Although scientists believe approximately 3,500 individuals in Georgia have fragile X syndrome, Emory researchers are trying to determine the true birth prevalence of fragile X syndrome in the state through samples obtained through the Georgia Newborn Screening Program. They will use that information to calculate the incidence of fragile X syndrome in the entire United States.
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 scientists, including Stephanie Sherman, PhD, 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 the FMR1 mutation predict their probability of giving birth to a child affected by fragile X syndrome. Now, with the recognition of fragile X-associated disorders occurring later in the life of the carriers of the mutation, genetic counselors are not only helping families but are involved in education of health care providers.
In 2003, with support from the National Institutes of Health, Emory and Baylor University established the Emory/Baylor National Fragile X Center, one of three inaugural centers in the country. Emory scientists are conducting ongoing laboratory and clinical research to gain new insight into fragile X. Emory opened a specialized fragile X clinic in 2004 to screen children, provide genetic counseling for parents who are carriers of the gene responsible for fragile X, and provide support in getting medical and social resources.
Emory scientists have now identified proteins related to fragile X syndrome that affect the ability of neurons to form connections with other neurons. They believe they are close to identifying therapies that may help improve the cognitive abilities of children with fragile X syndrome through regulation of these neural pathways. They also have discovered variations in the effects of the FMR1 gene that can be responsible for autism and other mental disorders, including learning disabilities, psychiatric disorders and behavioral difficulties. More than 200 scientific publications on fragile X syndrome have come from Emory University.
Several clinical studies are available for adults who suspect they may be affected by the fragile X mutation: the Emory Study of Adult Learning, the Emory Study of Premature Ovarian Failure and the Emory Study of Learning and Movement.
In another study, called the FMR1 Resequencing Project, scientists are searching for additional mutations of the FMR1 gene that may be responsible for some cases of fragile X syndrome but have not yet been identified.