Fragile X syndrome is among the four rare genetic disorders to be included in the world’s largest newborn screening study for rare diseases. The screening, financially supported by the Angelman Syndrome Foundation, the Foundation for Prader-Willi Research and the Victorian Medical Research Acceleration Fund, will also include…
The frequency and severity of symptoms associated with fragile X spectrum disorders in the rural town of Ricaurte in Colombia are much higher compared to those of the general population, a study has found. Researchers believe such differences may be because of higher exposure to toxic pesticides. The study, “…
Lower cognitive function affects gait and functional mobility in those with fragile X-associated tremor/ataxia syndrome (FXTAS), a study has found. Linking quantitative gait assessment with neuropsychological tests may help explain the complex interplay between cognitive and motor function and history of falls in these patients. The study, “Cognitive function…
Fragile X syndrome testing will now be available for newborns in North Carolina by way of a new study led by RTI International to research the disease’s prevalence and the benefits of early treatment. Called Early Check, the free-screening study is designed to identify children with rare health…
With the U.S. midterm elections now less than two weeks away, patient advocacy groups are solidly focused on a range of hot-button issues, from the Orphan Drug Tax Credit and affordable health insurance to future funding for rare disease research. Yet “whether Democrats take over the House or Senate,…
Altered calcium levels and poorly regulated activity in specific calcium channels in nerve cells could underlie fragile X syndrome (FXS) and be used as a diagnostic and treatment biomarker, according to a new study. The research, “New Insights Into the Role of Cav2 Protein Family in Calcium…
Social anxiety and autistic traits are prevalent in males with fragile X syndrome and these behaviors overlap with those observed in individuals with autism spectrum disorder (ASD) without a known genetic syndrome, a study reports. The overlap of traits between the two clinical subgroups makes their measurement extremely challenging, researchers…
Medicine that regulates cyclic adenosine monophosphate (cAMP) signaling can help correct defects in processing of sensory information in a fruit fly model of fragile X syndrome, a new study shows. The study, “Stress Odorant Sensory Response Dysfunction in Drosophila Fragile X Syndrome Mutants,” was published in the journal Frontiers in…
The 3D folding of the genome is distorted in fragile X syndrome and other closely related neurological conditions, according to researchers from the University of Pennsylvania (UPenn). “We’re tremendously excited to examine whether and how the 3D genome misfolding in Fragile X syndrome is causally linked to the…
Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced to seven years in federal prison for securities and wire fraud while heading San Diego-based Retrophin. As founder and CEO of another company (then known as Turing Pharmaceuticals), in late 2015 Shkreli bought the rights…
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