News

Highly-sensitive blood test may improve FXS prognosis

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…

Sound processing, behaviors linked in women with fragile X premutations

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…

Gruber Prize goes to discovery of NMD

University of Rochester researcher Lynne E. Maquat, PhD, is co-recipient of this year’s Gruber Genetics Prize for her discovery of nonsense-mediated mRNA decay (NMD), a protein quality control system within cells. Maquat and her team subsequently discovered that this control system is in overdrive in cells of people with…

Hair Follicles a Potential Biomarker for Fragile X

A pilot study in the U.S. shows that repeated sampling of hair follicles in people with fragile X syndrome, collected both at home and clinics, can be used to measure the levels of FMRP protein — whose production is impaired in fragile X patients. In addition, measuring FMRP levels using…