News

An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

Repeats in the FMR1 gene — which cause fragile X syndrome — help to regulate the normal production of the FMRP protein in nerve cells, a new study shows. This finding has implications for understanding the biology of repeats in the genome, and could pave the way for new therapies for…

Researchers have discovered that the fragile X mental retardation protein (FMRP) — the key protein lacking in fragile X syndrome — interacts with small fragments of a gene called eIF4G to control the production of proteins involved in nerve cell communication and memory. The findings were reported…

The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. Yet even with its enormous resources, the FDA these days relies more and more on patients to…

A mouse model of fragile X syndrome shows mild auditory impairments resembling those seen in people with the disorder, a study found. The study, “Characterization of auditory and binaural spatial hearing in a Fragile X Syndrome mouse model,” was published in the journal eNeuro. Fragile…

The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over two years after the European Union decided to relocate the EMA to the Netherlands in the wake of Brexit.

A Phase 2/3 trial testing the cannabidiol gel Zygel as a treatment for behavioral symptoms in children and teenagers with fragile X syndrome has completed screening for eligible participants. As a result, Zynerba informed clinical sites that screening has closed. The…

A ketogenic diet, rich in fats and low in carbohydrates (sugars), was able to reduce the frequency of seizures in a mouse model of fragile X syndrome, a study reports. The diet also decreased daytime activity, with varying effects on body weight depending on the sex and…

People with fragile X syndrome are more likely to develop infections, but are less susceptible to autoimmune disorders than the overall population, a new study found. Taken together, this suggests that the immune system is underactive in this patient population. The study, titled, “The phenotypical implications…

Increasing the levels of the SOD2 protein in mitochondria — the powerhouses of cells — may help halt symptoms of fragile X-associated tremor/ataxia syndrome (FXTAS), an early study suggests. The study, “Altered mitochondrial function in cells carrying a premutation or unmethylated full mutation of…