News

The Rare Diseases Clinical Research Network (RDCRN) has opened an online survey to better understand how the COVID-19 outbreak is affecting people with rare diseases, their families, and caregivers. Survey questions cover a patient’s physical and mental health, supply of treatments, and access to healthcare, among other…

May is Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorder Awareness Month. This year, although in-person events have been canceled due to the COVID-19 pandemic, The Ehlers-Danlos Society is challenging the community to help raise awareness of Ehlers-Danlos syndrome (EDS) and hypermobility spectrum disorder (HSD) by posting…

While there are few silver linings to the cloud created by COVID-19, the pandemic that has killed tens of thousands, hobbled economies worldwide and drove millions to quarantine in their homes, one may be a new appreciation of telemedicine. “If something good could come out of this crisis, it’s that…

FFF Enterprises and Bionews announced today that both rare and orphan disease advocates are joining forces to provide patients with resources to help them connect as a community and continue to manage their health during this time when many are finding themselves alone. Recognized as the nation’s leading supplier of…

Two newly identified mutations in the DSE gene are associated with musculocontractural Ehlers-Danlos syndrome (mcEDS) in three people from two families in Turkey and India. Combined data from this case report and previous reports of mcEDS patients suggest that DSE mutations are associated with lower symptom burden than mutations in the…

The National Organization for Rare Disorders (NORD) has opened a financial assistance program for people in rare disease community who are affected by the COVID-19 pandemic in the U.S. Called the NORD COVID-19 Critical Relief Program, the effort will provide up to $1,000 annually to those eligible to…

A newly discovered mutation in the FKBP14 gene results in a misfolded protein that causes kyphoscoliotic Ehlers-Danlos Syndrome (kEDS), a rare subtype of this orphan disease marked by a spinal curvature that causes a hunched appearance. Work on a molecular characterization of this mutation…

Because many members of the Ehlers-Danlos syndrome (EDS) community are overwhelmed and at home during the global COVID-19 pandemic, the Ehlers-Danlos Society is offering additional virtual support meetings, as it did in March. The free hour-long online events are opportunities for patients, their families, and caregivers to communicate with each…

First, the bad news: If you’re one of the 30 million or so Americans with a rare disease, you probably have lower immunity to the novel coronavirus than most people. Now, the good news: You already know how to face loneliness and adversity — qualities that make you far stronger…

The Living Rare, Living Stronger Patient and Family Forum, originally set for May 14–16 in Cleveland, Ohio, has been postponed until July 18–20 because of the coronavirus disease COVID-19 pandemic. The event’s sponsor, the National Organization for Rare Disorders (NORD), said it will still take place at the…