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Researchers have developed a highly-sensitive test that can reliably detect trace activity levels of FMR1 — the faulty gene in fragile X syndrome (FXS) — in the blood of patients who’d been thought to have none by current methods. This was done through the measurement of FMR1’s messenger RNA…
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How the brain processes sound varies across three neuropsychiatric feature-based subgroups of women who carry so-called premutations in FMR1, the gene associated with fragile X syndrome, a pilot study showed. “Our findings suggest a spectrum of sensory processing characteristics present in subgroups of premutation carriers that have been previously understudied…
Fragile X syndrome is a genetic condition associated with cognitive impairment, learning and behavioral challenges, and several physical features. Learn more about the disease here.
Fragile X is caused by mutations in the fragile X mental retardation 1 (FMR1) gene, located in the X chromosome. Learn more about what causes the disease here.
Symptoms differ in severity and occurrence among patients. Life expectancy for fragile X patients is generally normal. Learn more about the symptoms of the disease here.
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