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Carriers of the fragile X premutation who have not yet developed the disease have slower motor movements associated with mutation length and increased age. The study, “Age- and CGG Repeat-Related Slowing of Manual Movement in Fragile X Carriers: A Prodrome of Fragile X-Associated Tremor Ataxia Syndrome?” was published in the…
In recognition of Rare Disease Day 2018, Bionews Services — which publishes this website — will attend and report on three relevant conferences in the U.S. dealing with policies and programs of importance to patients and their families. The three are among 50 events in 32 states…
The University of California at Davis’s MIND Institute is recruiting children and young adults with fragile X syndrome for clinical trials dealing with learning spoken language. A key focus of the studies will be exploring ways to help them with these problems.
A rock-painting contest in Las Vegas. A fashion show in New York. A 7,000-meter race around the Washington Monument that’ll coincide with a similar #Racefor7 event in Bengaluru and Mumbai, India. From Athens to Atlanta, from San Diego to Sydney, people across the globe will mark World Rare Disease…
Loss of the fragile X mental retardation-1 (FMR1) gene is linked to an early decline in reproduction capacity due to high levels of the protein mTOR, a recent study using mice reveals. These results suggest that mTOR can become a potential therapeutic target. The study “Premature recruitment of oocyte…
David Curtis Glebe, a retired 64-year-old public prosecutor now living in Millsboro, Delaware, knows he’s lucky to be alive. In mid-2013, while in Arizona, Glebe was diagnosed with pancreatic neuroendocrine cancer (PNET) — the same disease that killed Apple’s founder and CEO Steve Jobs. After three years of progress…
Using rapamycin to rein in an overactive mTOR cell signaling pathway isn’t an effective way to treat fragile X syndrome, a study in mice indicates. It showed that rapamycin does not reverse most behavioral characteristics of the disease, including learning and memory problems, susceptibility to seizure, and hyperactivity. And it made mice’s…
The fragile X mental retardation protein plays a role in the development of the hearing system, a study in mice reports. This could explain why people with fragile X syndrome, which is caused by the loss of the FMRP protein, are hypersensitive to sound, researchers said. In normal circumstances, the FMR1…
In a new commentary by leaders in the field, the National Fragile X Foundation (NFXF) announced best practices for fragile X syndrome therapy development to improve the transition of treatments to human patients. The article, “Best Practices in Fragile X Syndrome Treatment Development,”…
Mice with the genetic defect that causes fragile X syndrome (FXS) are unable to learn new information that contradicts what they initially learned, researchers at NYU and the State University of New York report. The study, “Control of recollection by slow gamma dominating mid-frequency gamma…
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