News

A girl in Saudi Arabia was diagnosed with classical Ehlers-Danlos syndrome (cEDS) after a seemingly spontaneous perforation in her stomach wall, according to a case report. With increasing reports of such cases, patients need to be educated about EDS and offered family counseling, the researchers wrote. The study, “…

Women with hypermobile Ehlers-Danlos syndrome (hEDS) show similar physical functioning, as well as muscle strength, density, and mass, compared with those with hypermobile spectrum disorder (HSD), a study found. However, both patient groups have worse physical health and muscle strength than healthy women of the same age. The study,…

A new mutation in the COL3A1 gene has been linked to vascular Ehlers-Danlos syndrome (vEDS) in a woman in Japan, scientists report. This genetic variant — which was not found among more than 8,000 healthy Japanese people nor in worldwide databases of disease-associated variants — adds to the increasing number…

A retrospective study by the National Institutes of Health (NIH) suggests that healthcare costs for those with rare diseases have been underestimated, possibly being three to five times higher than for those without rare diseases. This study provides evidence of the potential effect rare diseases may have on public health…

Excluding pain, movement problems and spontaneous bleeding, people diagnosed with hypermobile Ehlers–Danlos syndrome (hEDS) and those with hypermobile spectrum disorder (HSD) have comparable disease severity and extra-articular (not affecting the joints) symptoms, according to a study. A physical therapy program also eased symptoms in a similar way for…

Global Genes has partnered with the Rare Disease Diversity Coalition (RDDC) to advance health equity for rare disease patients and caregivers in underrepresented communities of color. “For rare disease patients, there are many challenges — and for people of color with a rare disease, these challenges are compounded…

The Rare Disease Diversity Coalition (RDDC) awarded $600,000 in grants to ease the disparities faced by rare disease patients of color. These Impact Rare Disease Solution grants will go five RDDC steering committee working groups, which aim to identify problems for rare disease communities and advocate for solutions. The five…

The Ehlers-Danlos Society, in collaboration with the EDS and HSD International Consortium Pain Working Group, recently released a statement regarding opioid use by people with Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders (HSD). EDS is a group of genetic disorders that specifically affect the connective tissue…

Castle Creek Biosciences has partnered up with Mayo Clinic to search for gene therapies for classical Ehlers-Danlos syndrome (EDS) and a brittle bone disease called osteogenesis imperfecta (OI). While Mayo Clinic will carry out the preliminary research to identify and assess gene therapy candidates, the most promising…

A new U.S. initiative called Rare Disease Cures Accelerator–Data and Analytics Platform — dubbed RDCA–DAP — aims to accelerate treatment innovation across rare diseases by sharing existing patient data and promoting the standardization of new data collection. Launched during a virtual workshop in September, the U.S. Food and Drug…