News

With so much recent publicity surrounding gene therapy, it’s no surprise that the topic was a major focus of the recent 2019 NORD Rare Diseases & Orphan Products Breakthrough Summit. From diagnosis and clinical trial design to manufacturing, pricing strategies, and ethical concerns, gene therapy — both its high…

Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.

The Ehlers-Danlos Society has received an anonymous gift of $1 million to advance research in Ehlers-Danlos syndromes (EDS), hypermobility spectrum disorders (HSD), and related medical conditions. The generous gift has enabled the Ehlers-Danlos Society, in collaboration with The International Consortium on EDS and HSD,…

People with hypermobile Ehlers-Danlos syndrome (hEDS) have larger spaces in the shoulder joint than those without the condition, and this anatomical difference may help to explain their shoulder pain, a study has found. The findings may also have implications for designing exercise programs for people with hEDS. The study…

A person with Ehlers-Danlos syndrome (EDS), during the course of a routine nerve root block procedure, developed a ‘leak’ of the fluid that normally surrounds the brain and spinal cord, a case study reports, highlighting the need for caution in performing nerve root blocks on EDS patients. The study appeared…

Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…

The Penn State Clinical and Translational Science Institute is funding seven new projects through its Bridges to Translation pilot grant program. One project aims to improve understanding of Ehlers-Danlos syndromes among primary care doctors. The goal of the Bridges to Translation program is to fund research in fields…

Routine heart tests and echocardiography — a non-invasive test that uses sound waves to create moving pictures of the heart — may not be necessary for patients with hypermobile Ehlers-Danlos syndrome (hEDS) who have no family history of heart problems, a small study reports. The study, “Utilization of echocardiography in Ehlers‐Danlos syndrome,”…

Surgery to correct spinal abnormalities does not appear to pose additional risks for bleeding or postoperative complications related to wound healing in children with Ehlers-Danlos syndrome (EDS), compared with those without EDS having the same procedure, an analysis revealed.  The study, “…

The Ehlers-Danlos Society has helped to launch a center at Indiana University Health (IU Health) to advance research, education, and patient care in some of the least understood genetic diseases. Called The Ehlers-Danlos Society Center, it will provide comprehensive and multidisciplinary care for patients with Ehlers-Danlos syndrome…