News

Hypermobile EDS Clinically Similar to Hypermobility Disorders, Study Finds

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, Diversity Coalition Team Up to Advance Health Equity

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…

Rare Disease Diversity Coalition Awards $600K to Combat Disparities

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…

Ehlers-Danlos Society Releases Statement on Opioid Use

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, Mayo Clinic Join Forces in Search of Gene Therapies

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…

New Data-sharing Program Aims to Speed Innovation in Rare Diseases

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…

Newly Found vEDS Mutation Causes Severe Joint, Muscle Involvement

A new mutation in the most common gene causing vascular Ehlers–Danlos syndrome (vEDS) — COL3A1 — was found to lead to severe involvement of the joints and muscles, a case study reported. The findings provide insight into mutations causing the disease and expand clinicians’ understanding of “the phenotypic spectrum…