Word: hagerman
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...research, prodded along by advocacy groups like the National Fragile X Foundation and FRAXA, is yielding insights that have implications for understanding and treating autism--and perhaps a number of other conditions too. "Fragile X is leading the autism field in terms of new treatments," says pediatrician Randi Hagerman, medical director of the MIND Institute. "We know the gene, we know a lot about the biology, and we know how to fix it. That's pretty exciting...
...pediatrician Hagerman who first noticed in the late 1990s that mothers of kids with FXS often reported that their father was experiencing neurological symptoms. "I thought, This can't be a coincidence," she recalls. At an FXS conference in 2000, Hagerman asked some 100 fragile X family members if an older male relative was having problems with balance, tremors or dementia. About a third of the audience members shot their hands into the air. Within a few years, a newly recognized genetic disorder called FXTAS (fragile X--associated tremor, ataxia syndrome) was part of the literature, though the illness...
...This gives the whole field of autism a lot of hope for targeted treatments that can be beneficial," says Dr. Randi Hagerman, medical director of the MIND Institute and director of the Fragile X Research and Treatment Center at the University of California, Davis. "It's likely that the mGluR5 pathway may be involved in other kinds of autism," she says. That means that a drug that works on this pathway could have broad application in treating autism...
...happens, drugs that block the mGluR5 receptor already exist. Hagerman's group and a team at Rush University in Chicago are about to test one such drug, fenobam, as a treatment for Fragile X. Bear, meanwhile, has founded a company called Seaside Therapeutics that hopes to begin human safety tests of another drug as early as next year. Both researchers believe that a safe and effective mGluR5 inhibitor would help both children and adults with Fragile X Syndrome, though drug treatment early in childhood would seem to offer the most promise...
...Hagerman, one of the nation's leading researchers on Fragile X, hopes that the current explosion of interest in the disorder will lead more people with autism and their relatives to be tested for the Fragile X defect. Just being a carrier of the disorder can have health implications, including an elevated risk of premature menopause for women and tremors and cognitive decline in older men. Theoretically, a drug that treats Fragile X could lower risks for carriers as well. Says Hagerman: "It's a very exciting time...