News

AllianceRx Walgreens Prime, a specialty and home delivery pharmacy, is partnering with TailorMed, a healthcare technology company, to help lower out-of-pocket prescription costs for specialty pharmacy patients. Medications attained through specialty pharmacies are those used to treat rare and chronic conditions in the U.S., and are often extremely costly. For…

A new and easy-to-use algorithm may help physicians diagnose epidermolysis bullosa aquisita (EBA) sooner, a process that now can take months or even years. In a recent study, researchers used artificial intelligence to analyze entire skin biopsies, of which the human eye normally can observe only a small part.

Nominations are now open for the worldwide 2022 Black Pearl Awards from Eurordis-Rare Diseases Europe. The 12 award categories recognize individual advocates, policy makers, researchers, organizations, and companies who work to make a difference for the global rare disease community. The deadline for nominations is Sept. 10…

Treatment with Abeona Therapeutics‘ investigational cell therapy EB-101 led to successful wound healing and eased pain in seven adults with recessive dystrophic epidermolysis bullosa (RDEB) who were followed for up to six years in a clinical trial. “The updated Phase 1/2a results showed safety and durable efficacy…

Ways to improve the quality of life for people with epidermolysis bullosa (EB) are needed, as those living with the disorder report a range of psychological and social impacts. In a series of interviews, a group of children and young adults with EB described their disease as significantly affecting…

At its first virtual investor event, biotech company Centogene set a bold mission: to cure 100 rare diseases within the next decade. A leader in the field of genetic diagnostics, Centogene used the June 22 event to present its strategic priorities, outlining its plans to speed the discovery…

Excessive thickening of the skin on the soles of the feet (plantar keratoderma) is a common and serious complication of all subtypes of epidermolysis bullosa simplex (EBS), a study from Germany reports. This complication, appearing in early childhood, was significantly associated with pain, obesity, and limited mobility, negatively affecting employment…

To help patient advocacy leaders and their partners better understand how global health statistics codes — known as ICD codes — are assigned, updated, and revised in the U.S. health information system, the EveryLife Foundation for Rare Diseases is presenting a first-of-its-kind resource guide. The foundation created the…

A 47-year-old woman with a newly described COL7A1 gene mutation was diagnosed with dystrophic epidermolysis bullosa (DEB), and possibly an unusual subtype affecting the extremities. She had a history of severe toenail alterations and periods of blistering skin since childhood. “Given the…

Those who wish to gain practical tools for living optimally with rare diseases are encouraged to attend the annual Living Rare Living Stronger Patient and Family Forum, hosted by the National Organization for Rare Disorders (NORD) and set this year for June 26-27. The conference brings together patients,…

Using exon skipping therapies may be an easy, affordable, and effective approach for people with epidermolysis bullosa (EB) with amenable mutations, an early study suggests. Such therapies would promote the production of a slightly shorter, but working version of the skin-related protein that is missing in people with EB, researchers said.

Eurordis opened a campaign, called Rare 2030 Action, that is seeking to establish a European action plan for rare diseases to ensure that none of the 30 million people in Europe living with rare diseases are left behind by the start of a new decade. As part of…