UMass Medical receives $9.5M grant

The National Institutes of Health has awarded a $9.5 million grant to investigators at the University of Massachusetts Medical School to establish a research center that would investigate the cause and treatment the most common form of inherited intellectual and developmental disability, known as Fragile X.

“In previous studies we’ve shown that we can reverse or rescue the Fragile X syndrome and restore nearly normal behavior and certain biochemical abnormalities in mice,” Joel D. Richter, professor of molecular medicine, who is leading the research. said in a statement. “We want to investigate how this process works initially in mice and then in humans, which will hopefully lead to new treatments for this disease.”

Fragile X is the most common form of inherited intellectual and developmental disability and comes from a single inactive gene, said Richter, causing an increase in protein creation in the brain. Research is focusing on how rebalancing that protein can reverse the illness.

Fragile X can affect one in about 4,000 men or one in about 6,000 women. People with Fragile X suffer from intellectual disability as well as mild-to-severe behavioral and learning challenges. As many as 30 to 50 percent of people with Fragile X also have autism-related features.

The center at UMass Medical is one of three funded by the NIH, with a total of $35 million awarded to the centers.