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…
This week marks the launch of the “7,000 Mile Rare Movement,” a nationwide effort to raise money for research into the 7,000 known rare diseases that afflict at least 30 million Americans. The campaign kicks off Feb. 1 and culminates with Rare Disease Day on Feb. 28. Organized by…
The intellectual disabilities in people with fragile X syndrome may be caused by poor communication between neurons, rather than flaws in the nerve cells, according to research from New York University. A research team there discovered that groups of neurons failed to signal in unison when mice with the…
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