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NIH Awards $35M for Centers for Collaborative Research in Fragile X

2.4 from 7 votes
Wednesday, September 24, 2014

The National Institutes of Health (NIH) is making funding awards of $35 million over the next five years to support the Centers for Collaborative Research in Fragile X program. Investigators at these centers will seek to better understand Fragile X-associated disorders and work toward developing effective treatments.

Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome (FXTAS), and Fragile X-associated primary ovarian insufficiency (FXPOI), along with other related conditions, can cause major health problems of concern to individuals and families.

These disorders result from a variety of distinct mutations in a single gene, named FMR1. FMR1 normally makes a protein that helps create and maintain connections among cells in the brain and nervous system. Changes in the gene can reduce or eliminate the protein, which may result in Fragile X syndrome or other conditions. Not all people with FMR1 mutations display symptoms of Fragile X-associated disorders, but their children are at greater risk of inheriting the disorders.

Fragile X syndrome is the most common form of inherited intellectual and developmental disabilities, affecting approximately one in 4,000 males and one in 8,000 females. People with Fragile X syndrome may have disabilities ranging from mild to severe, as well as emotional and behavioral problems. As many as 30 to 50 percent of people with Fragile X syndrome also have features of autism spectrum disorders.

FXTAS is a neurodegenerative disorder that causes gradual loss of muscle control and cognitive abilities. It primarily affects males, with symptoms appearing most often after age 50. FXPOI causes fertility problems in women, plus increased risks of osteoporosis and heart disease.

The Centers for Collaborative Research in Fragile X, originally established in 2000, have produced many findings that have advanced the field of Fragile X research. Past research has revealed a better understanding of the basic functions of the FMR1 gene and about the risk of transmitting FMR1 gene mutations across generations.

“We’re hopeful that continued research into Fragile X and related conditions will spur tangible benefits for many that deal with these disorders,” said Tiina Urv, chair of the NIH Fragile X Syndrome Research Coordinating Group and a program director at the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). “Each of these centers is focused on a specific research challenge and has the promise to make a significant impact on the field in the next five years.”

In addition to NICHD, the National Institute of Mental Health and the National Institute of Neurological Disorders and Stroke are contributing funding and scientific expertise.

Source: The National Institutes of Health
2.4 from 7 votes
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