Patricia Inácio, PhD,  science writer—

“A correct diagnosis of [classical Ehlers-Danlos syndrome or] cEDS is not always straightforward,” researchers in Belgium concluded in a new study, in which the scientists urged that anyone suspected of having this type of the rare connective tissue disorder undergo a complete clinical examination, followed by genetic testing. Such testing…

Scientists have identified a set of new genetic mutations as the likely cause of bone fractures during the embryonic development of a baby born to a woman with hypermobile Ehlers-Danlos syndrome (hEDS). One of the mutations was found in the CCDC134 gene, which had been previously linked with bone fragility. These…

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…

People with Ehlers-Danlos syndrome (EDS) who undergo surgery to fix joint problems experience less pain when given opioid-free anesthesia and post-surgery pain management, a study reports. The study, “Opioid-free anesthesia for patients with joint hypermobility syndrome undergoing craneo-cervical fixation: a case-series study focused on anti-hyperalgesic approach,”…

More than half of the people with rare diseases and their caregivers, asked in a survey, were undecided or less than willing to be vaccinated for COVID-19 if a vaccine was approved under emergency use authorization instead of the routine process, the EveryLife Foundation for Rare Disease reports. These findings…

The EveryLife Foundation for Rare Diseases is accepting applications for a scholarship program that aims to help adults with a rare disease pursue personal goals through training and education. For a second year, the #RAREis Scholarship Fund — supported by Horizon Therapeutics – will award 35 one-time scholarships, each…

A young girl diagnosed with Ehlers-Danlos syndrome (EDS) exhibited a rare case of so-called odontogenic keratocysts — benign cystic lesions characterized by aggressive growth — in her jaw, according to a case report. The report highlights the importance of an interdisciplinary approach for diagnosis and treatment of such complex…

More than half of patients with Ehlers–Danlos syndrome (EDS) and hypermobility spectrum disorder (HSD) use complementary alternative therapies to manage pain, according to the results of a survey. Opioids, physical therapy, and marijuana were rated by the participants as extremely helpful to manage chronic and severe pain. The study…

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…

The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…