Scientists have developed a new technique for genetic testing that can predict a woman’s risk of having a child with fragile X syndrome when she carries a specific type of mutation. The study that discusses the method, “Detecting AGG Interruptions in Females With a FMR1 Premutation by Long-Read Single-Molecule…
The association between structural abnormalities in certain regions of the brain and the ability to process spacial positioning of objects has been demonstrated in a mouse model of fragile X syndrome. The study, “Impaired spatial processing in a mouse model of fragile X syndrome,” was published…
The FRAXA Research Foundation has awarded two $90,000 grants to university research projects that aim to identify new targets for fragile X syndrome therapies. The funded projects will use mini-brains grown in the laboratory to unravel the mechanisms underlying the disease and also understand what is behind the loss of…
As President Trump signed the recently passed Right to Try legislation into law in a White House ceremony, Jordan McLinn of Indianapolis tried twice to embrace him. The third time, 9-year-old Jordan finally got the hug he wanted — as well as a kiss on the forehead. The video of…
Cognitive behavioral therapy may help children with autism spectrum disorder, including fragile X syndrome, manage a range of emotional challenges such as anxiety, sadness, or anger, according to researchers. Their study, “A randomized waitlist-controlled trial of cognitive behavior therapy to improve emotion regulation in children with…
A University of Calgary team attempting to reverse symptoms of fragile X syndrome (FXS) in mice was awarded a $100,000 grant by the FRAXA Research Foundation and the Fragile X Research Foundation of Canada. Fragile X syndrome, the most common genetic cause of autism, is caused by lack…
Finding treatments and potential cures for rare diseases is crucial, but so is the quality of patients’ lives — a rather nebulous term that means different things to different people. “Recently, there’s been much more of a focus on Quality of Life (QoL) issues, real-world evidence and patient-reported outcomes,” said…
Originally approved for hypertension, the injectable medicine bumetanide was able to correct an imbalance in nerve cells that underlies sensory problems linked to fragile X syndrome, a new mouse study shows. The study “Critical period inhibition of NKCC1 rectifies synapse plasticity in the somatosensory cortex and restores adult tactile response…
A new U.S. Centers for Disease Control and Prevention (CDC) report found a 15% increase in the prevalence of autism spectrum disorder (ASD) since the last report came out two years ago, marking the highest prevalence rate since the CDC began tracking ASD in 2000. Autism spectrum disorder is an umbrella term…
The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both the 1983 Orphan Drug Act and NORD’s founding at a dinner tonight in Washington, D.C. The 2018 Rare Impact Awards, to be held at the Andrew W. Mellon Auditorium, will be webcast via Facebook for those…
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