Aisha I Abdullah PhD,  —

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…

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…

Four previously unknown disease-causing mutations in the COL7A1 gene are identified in a case report describing the clinical features of five Southeast Asian patients with self-improving dystrophic epidermolysis bullosa (DEB).  The five cases — the first reported among patients with Southeast…

A potential gene therapy for dystrophic epidermolysis bullosa (DEB) known as AP103 received a positive opinion from the Committee for Orphan Medicinal Products (COMP) — an arm of the European Medicines Agency — on a request for orphan drug designation. The European Commission typically grants this…