News

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…

KGK Science will launch a Phase 2a trial in the coming months to test NM-1001, a psilocybin microdose therapy — meaning one that contains low doses of the hallucinogenic compound — in people with fragile X syndrome. The company has received a needed exemption from the Canadian government…

The absence of fragile X mental retardation protein (FMRP) — absent or at low levels in people with fragile X syndrome — leads to protein changes linked to inflammatory processes in a brain region called the prefrontal cortex, according to a new study in mice. In mice without FMRP,…

Girls and women with fragile X syndrome show different learning impairments relative to boys and men with the disease, a finding that was paralleled in a mouse model of the disease, a study found. A feature common across both sexes and species was a difficulty in cognitive flexibility, or…

Cell growth and signaling, as well as cholesterol production, are significantly altered in lab-grown astrocytes — the star-shaped brain cells that provide support to neurons — derived from people with fragile X syndrome, a study shows. The patient-derived cells also had altered levels of a number of proteins that…

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…

Treatment with a small molecule called pireperone rescued cognitive and behavioral impairments in a mouse model of fragile X syndrome, making it a potential therapy candidate for the rare genetic disorder, a study reported. Pireperone’s beneficial effects were likely associated with a significant increase in the activity of the…

Caregivers can accurately recognize signs of anxiety in people with fragile X syndrome whose ability to articulate their emotional state is limited, a new study shows. “While most people with FXS [fragile X syndrome] cannot reliably describe their internal body or emotional states to support self-reported assessment procedures, the…

A tripledemic — high rates of respiratory syncytial virus, influenza, and COVID-19 — is slowing enrollment in the Phase 3 clinical trial testing Zygel, Zynerba Pharmaceuticals’ experimental cannabidiol gel, in children and adolescents with fragile X syndrome. These environmental factors are causing unexpectedly higher cancellations of the initial…

The NIH Toolbox Cognition Battery (NIHTB-CB) test accurately detects developmental changes in cognitive function among young people with intellectual disabilities, including those with fragile X syndrome, a study reports. Matching, or even exceeding, the changes detected in a standard IQ test over two years, the NIHTB-CB is a…