Three research teams receive funding over next five years
The National Institutes of Health 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 1 in 4,000 males and 1 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, Ph.D., 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.
Grants were awarded to research teams led by the following investigators:
- Kimberly M. Huber, Ph.D., University of Texas Southwestern Medical Center, Dallas
(Grant number 1U54 HD082008-01)
Many people with Fragile X syndrome are sensitive to sensory stimuli, especially noise. Dr. Huber’s team will study brain circuits in mouse models and people to try to determine the causes of heightened sensitivity to sound. This information may lead to more targeted therapies.
- Joel D. Richter, Ph.D., University of Massachusetts Medical School, Worcester
(Grant number 1U54 HD082013-01)
In collaboration with Gary J. Bassell, Ph.D. (Emory University, Atlanta) and Eric Klann, Ph.D. (New York University), Dr. Richter’s research group will study three molecules that appear to play important underlying roles in Fragile X syndrome. The team will examine these molecules as possible targets for future drug development.
- Stephen T. Warren, Ph.D., Emory University
(Grant number 1U54 NS091859-01)
Not all individuals who have FMR1gene mutations experience the same symptoms, and researchers are still trying to find out why. Dr. Warren’s team will sequence the genomes of patients withFMR1gene mutations to identify whether additional genes may affect an individual’s likelihood of developing certain health problems associated with FMR1 mutations. They will focus on epilepsy in boys with Fragile X syndrome and on FXTAS (which tends to be seen in older men) and FXPOI (which is seen only in girls and women).
Additional information about Fragile X syndrome and related disorders is available at http://www.nichd.nih.gov/health/topics/fragilex.
About the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): The NICHD sponsors research on development, before and after birth; maternal, child, and family health; reproductive biology and population issues; and medical rehabilitation. For more information, visit the Institute’s website at http://www.nichd.nih.gov/.
About the National Institute of Mental Health (NIMH): The mission of the NIMH is to transform the understanding and treatment of mental illnesses through basic and clinical research, paving the way for prevention, recovery and cure. For more information, visit http://www.nimh.nih.gov.
About the National Institute of Neurological Disorders and Stroke (NINDS): The NINDS (https://www.ninds.nih.gov) is the nation’s leading funder of research on the brain and nervous system. The mission of NINDS is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease.
About the National Institutes of Health (NIH): NIH, the nation’s medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit http://www.nih.gov.