News

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…

The U.S. Food and Drug Administration (FDA) will give priority review to Amryt Pharma’s application seeking approval of Filsuvez (Oleogel-S10), a topical gel to treat skin wounds in people epidermolysis bullosa (EB). A final decision by the agency is expected by Nov. 30, according to the announced Prescription Drug…

Ahead of this year’s Rare Disease Week on Capitol Hill, held virtually July 14–22, the EveryLife Foundation will award grants to top advocates of rare disease organizations who participate in the week’s pre-events. The top 50 point-earners will be eligible to win $1,000 to $5,000in  grants, totaling up…

A distinct set of bacteria colonizes the skin in and around wounds in people with dystrophic epidermolysis bullosa (DEB), according to a new study. The finding suggests that these patients may benefit from therapies that specifically target those bacteria and that encourage the growth of non wound-associated bacteria instead.

Elongate, a charity-focused cryptocurrency token, donated $150,000 to the EB Research Partnership (EBRP) #CryptoForCures Fund, which seeks to advance research to cure epidermolysis bullosa (EB) and other rare diseases.  With a goal of…