News

To help patient advocacy leaders and their partners better understand how global health statistics codes — known as ICD codes — are assigned, updated, and revised in the U.S. health information system, the EveryLife Foundation for Rare Diseases is presenting a first-of-its-kind resource guide. The foundation created the…

Those who wish to gain practical tools for living optimally with rare diseases are encouraged to attend the annual Living Rare Living Stronger Patient and Family Forum, hosted by the National Organization for Rare Disorders (NORD) and set this year for June 26-27. The conference brings together patients,…

COVID-19 lockdowns posed additional challenges for mothers and their children — from toddlers to teens — with fragile X syndrome, who saw their sleep habits and well-being disrupted, a small survey in Italy revealed. The findings highlight the need to give specific support to mothers and their children with special…

Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…

Ahead of this year’s Rare Disease Week on Capitol Hill, held virtually July 14–22, the EveryLife Foundation will award grants to top advocates of rare disease organizations who participate in the week’s pre-events. The top 50 point-earners will be eligible to win $1,000 to $5,000in  grants, totaling up…

Infants with fragile X syndrome who are fed with breast milk for a minimum of one year have a decreased prevalence of autism, a retrospective study found. However, breast milk consumption was linked to the earlier development of gastrointestinal problems and allergies among these infants, according to the investigator.

Nova Mentis has launched an observational study examining the interconnected roles that gut microbes, serotonin, and the immune system play in the gut and brain development of people with autism spectrum disorders (ASDs), including fragile X syndrome. The study (NCT04869930) aims to develop a set of tools — a…

Applications are being accepted for an innovative new four-year college program at the University of California, Davis (UC Davis) for students with intellectual disabilities such as fragile X syndrome. The program is said to be the first of its kind in California and is a collaboration of…

An artificial intelligence (AI) model based only on the occurrence of health conditions previously and newly associated with fragile X syndrome accurately identified fragile X patients five years earlier than diagnosis, according to a study based on nearly 5,600 people in Wisconsin. Among early signs of fragile X were not…

A mouse model of fragile X syndrome has higher body weight and distinct metabolic changes relative to healthy mice and mouse models of two other neurodevelopmental disorders, a study shows. The findings highlight not only that each mouse model exhibits a unique, sex-specific metabolic signature, but also that problems…