News

Atypical gazing when looking at facial expressions is associated with social cognition and language abilities in women with a premutation in the FMR1 gene, a new study has found. The study, titled “Physiological regulation and social-emotional processing in female carriers of the FMR1 premutation,” was published in the…

The expansion of DNA repeats in the FMR1 gene, which leads to fragile X syndrome, is independent of changes that stop production of the resulting FMRP protein, according to an analysis of a family with fragile X.  The study, “…

Healx and Boehringer Ingelheim are partnering to speed up the discovery of new treatments for rare neurological diseases such as fragile X syndrome. Under the agreement, Healx’s artificial intelligence (AI) drug discovery platform, called Healnet, will be used in the identification of new indications for products in…

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…

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…