The National Institutes of Health in the United States has awarded more than $35m over the next five years to support research into Fragile-X- associated disorders.
Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome and Fragile X-associated primary ovarian insufficiency can cause major health problems.
The disorders result from 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.
The Centers for Collaborative Research in Fragile X, which were established in 2000, have already advanced the field of Fragile X research through improved understanding and the grants will further the work.
The National Institute of Mental Health and the National Institute of Neurological Disorders and Stroke are also backing the work and grants were awarded to teams led by the following investigators:
Kimberly M. Huber, Ph.D., University of Texas Southwestern Medical Center, Dallas – 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 – 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.
Stephen T. Warren, Ph.D., Emory University – Dr Warren’s team will sequence the genomes of patients with FMR1 gene mutations to identify whether additional genes may affect an individual’s likelihood of developing certain health problems associated with FMR1 mutations.
Tiina Urv, Ph.D, chair of the NIH Fragile X Syndrome Research Coordinating Group and a programme director at the Eunice Kennedy Shriver National Institute of Child Health and Human Development, said: “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.
“Each of these centres is focused on a specific research challenge and has the promise to make a significant impact on the field in the next five years.”