News

The EveryLife Foundation for Rare Diseases has launched a scholarship fund in the U.S. to support individuals with rare disorders who are pursuing personal goals through training and education. The initial phase of the five-year, $1-million #RAREis Scholarship Fund will include 32 scholarships — each totaling $5,000 —…

Patients with classical-like Ehlers-Danlos syndrome (EDS) due to tenascin-X deficiency, a rare form of EDS, are at risk for tissue fragility especially in the gastrointestinal tract, a study has found. The study, “Classical-like Ehlers–Danlos syndrome: a clinical description of 20 newly identified individuals with evidence of tissue…

When the COVID-19 pandemic forced the postponement of a rare disease film festival originally slated for May, its organizers set out to find a new way to bring the films to an audience.  Co-founders Daniel DeFabio and Bo Bigelow, who are both fathers of children with…

A new screening system will allow people with hypermobile Ehlers-Danlos syndrome (hEDS) to participate in the worldwide Hypermobile Ehlers-Danlos Genetic Evaluation (HEDGE) study without an in-person visit, the Ehlers-Danlos Society announced in a press release. The changes will help “to break down geographical barriers in research…

Corrective eye surgery may be an option for some types of Ehlers-Danlos syndrome (EDS), according to a recent case report. Eye surgery is generally not recommended for EDS patients because of the high risk of scarring and other complications. The disorder is often caused by mutations that affect the…

Physicians should suspect vascular Ehlers-Danlos syndrome when a patient shows recurrent pulmonary complications and unusually thin skin and hypermobile joints, a case report suggests. The patient was found to have a previously unknown gene mutation that affected a connective tissue protein, its investigators wrote. Their report, “Recurrent pneumothorax and…

The EveryLife Foundation for Rare Diseases has launched a nationwide National Burden of Rare Disease Survey to measure the full implications, economic and social, of living with rare disease in the United States. People with rare diseases know that the impacts of such conditions extend beyond just medical…

Pain in people with hypermobile Ehlers-Danlos syndrome (hEDS) likely is the result of an impaired pain suppression system that may lead to widespread pain, a study shows. The data, which also contradict a previous theory that EDS-related pain was caused by damage in nerve fibers, may help in the development…

The Alexion Charitable Foundation has awarded $1.1 million in grants to programs that support those with rare diseases during the COVID-19 pandemic, the organization recently announced. The grants will support activities that align with the foundation’s Rare Belonging focus, a set of funding priorities aimed at improving the…

In patients with Ehlers-Danlos syndrome (EDS), defects in the aortic carboxypeptidase-like protein (ACLP) — a protein that plays a key role in wound healing and tissue scarring (fibrosis) — lead to its retention inside cells, increasing cellular stress. According to researchers, these findings may be relevant for the development…