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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…

Mutations in the gene SLC39A13 cause a very rare type of Ehlers-Danlos syndrome (EDS) that is characterized by short stature starting in early childhood and distinctive facial features, a study reports. Its researchers suggest approaches that could be helpful in diagnosing this rare EDS form, including facial analysis and…

The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.

Mutations in the TGFBR1 gene, the underlying cause of some cases of vascular Ehlers-Danlos syndrome (vEDS), may lead to hearing loss by preventing the formation of key sensory cells in the inner ear during development, a study in mice has found. The research also provided key insights into the…