News

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…

Interventional strategies that foster the development of academic and living skills are necessary to assure the independence of adult fragile X patients, especially those with autism, shows a U.S. study based on a survey. The study “A comparison of functional academic and daily living skills in males with fragile…

The European Union isn’t doing enough to protect the 30 million or so people with rare diseases who live in its 28 member countries, officials meeting last week in Vienna said. More than 900 people from 58 nations attended the 9th European Conference on Rare Diseases & Orphan Drugs (ECRD),…

The professionals and parents who are part of the Fragile X Clinical and Research Consortium (FXCRC) have updated treatment and intervention recommendations for fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS is a late-onset neurodegenerative disease that was first identified in older, mainly male, grandparents and parents of individuals with…

A University of Virginia scientist has won the Hartwell Individual Biomedical Research Award for her work on neurodevelopmental disorders that occur during childhood. The research of Sanchita Bhatnagar, PhD, will be funded with $100,000 per year for three years. Bhatnagar is one of 12 recipients…

Babies with fragile X syndrome have less-developed brain white matter compared to those without the syndrome, according to researchers.  Their study, “Development of White Matter Circuitry in Infants With Fragile X Syndrome,” was published in JAMA Psychiatry. Fragile X syndrome is caused by mutations in the FMR1…

Lysogene has signed a partnership agreement with Hervé Moine, a pioneering French researcher, to potentially develop a gene therapy for fragile X syndrome (FXS) based partly on work supported by the Fraxa Research Foundation. Moine, a member of the Institute of Genetics, Molecular and Cell Biology (IGBMC) and…

At least 800 people representing some 45 countries are soon expected to gather in Austria’s capital city, Vienna, for ECRD 2018, the 9th European Conference on Rare Diseases and Orphan Products. The May 10-12 meeting is sponsored by Eurordis, the Paris-based group that defines itself as a “patient-driven alliance”…

Mice that lack the gene responsible for fragile X syndrome have similar changes in brain activity in the auditory cortex as those reported in humans. The study with that finding, “Translation-relevant EEG phenotypes in a mouse model of Fragile X Syndrome,” was published in the journal of Neurobiology…