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A new method can accurately quantify genetic variants called short tandem repeats (STRs) and may improve diagnosis of fragile X syndrome and other disorders, a study suggests. The method was described in the study, “Analysis of short tandem repeat expansions and their methylation state with nanopore sequencing,”…

Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.

Challenging behavior such as hyperactivity and aggressiveness in children with fragile X syndrome have a negative impact on maternal mental health and on the relationship between mother and child, a new study suggests. The study, “Child Challenging Behavior Influences Maternal Mental Health and Relationship Quality Over…

A new animal model of fragile X syndrome suggests that a short time window very early in life is critical for effectively treating the condition. The study, “A DNAzyme based knockdown model for Fragile-X syndrome in zebrafish reveals a critical window for therapeutic intervention,” was published in the…

According to their parents, children with fragile x syndrome experience the highest quality of life in physical functioning and the lowest in cognitive ability, a study shows. The findings also revealed greater health-related quality of life (HRQoL) in families of females compared with those of males — which may…

Genetic screening for fragile X syndrome should be available to all pregnant women and to those considering having a child, regardless of family history or fertility issues, a study suggests. The study, “Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those…

A new case report described a characteristic imaging pattern of fragile X‑associated tremor/ataxia syndrome (FXTAS) in a 63-year-old man, which included white matter lesions in a brain region called the cerebellum. The study, “MRI findings in fragile X‑associated tremor/ataxia syndrome,” was published in the journal…

Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…

Exposure to sound at an early age may prevent brain changes related to sound hypersensitivity in people with fragile X syndrome, a study in a mouse model suggests.  The study, “Beneficial effects of sound exposure on auditory cortex development in…

Distinct neurodegenerative disorders can occur simultaneously in the same individual, as described in a case report of a man with fragile X-associated tremor-ataxia syndrome (FXTAS) and progressive supranuclear palsy (PSP). Analysis of his brain alterations suggested that the two conditions developed independently. The research, “Fragile X-associated tremor…