News

A case report demonstrates that a novel mutation discovered in the junctional plakoglobin (JUP) gene can lead to lethal congenital epidermolysis bullosa (EB). The report, titled “A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa,” was published in The Journal of Pediatrics. The normal…

Feeding through a tube inserted directly into the stomach, a process known as gastrostomy, is a potentially beneficial strategy for improving nutritional intake in epidermolysis bullosa (EB) patients, a review study suggests. The study, “Effectiveness of Gastrostomy for Improving Nutritional Status and Quality of Life in Patients…

A lack of vitamin D is a potential key factor in epidermolysis bullosa acquisita (EBA), researchers have found. Using mouse models of the disease, they showed that orally administrating calcitriol, vitamin D’s active form, reduced disease severity and improved inflammation by regulating the immune system’s response. The study, “…

Hollywood celebrities Kaley Cuoco, Mandy Moore and Elizabeth Olsen have designed the latest Charity by Design collection by eco-conscious jewelry brand Alex and Ani to benefit the Epidermolysis Bullosa Medical Research Foundation (EBMRF). To support the epidermolysis bullosa (EB) community, Cuoco, Moore and Olsen were each responsible for the design…

Researchers found two mutations in a gene that carries the instructions for the protein plectin in a patient with epidermolysis bullosa simplex (EBS). Plectin helps maintain the integrity of the skin, and the research team believes the mutations they found might be the cause of the disease in this patient. The…

Orphan Drug Designation was recently granted to ProQR Therapeutics’ investigational therapy QR-313 for the treatment of dystrophic epidermolysis bullosa (DEB) by the European Medicines Agency (EMA). Orphan Drug Designation (ODD) in Europe is granted to drug candidates intended for the treatment, prevention or diagnosis of diseases that…

Moin Younis, the ambassador for Acorns Children’s Hospice, won a Pride of Britain award as a “Teenager of Courage” for his character as a leader and for inspiring other children around him to stay strong despite life-limiting conditions. As the ambassador for Acorns, a center for children with life-limiting or life-threatening…

A group of physicians and researchers in Germany and Italy were quietly making history in 2015, aware they were doing something extraordinary but refraining from going public. They needed time to ensure their feat — giving a dying boy with epidermolysis bullosa (EB) genetically engineered new skin — would be a…

The National Organization for Rare Disorders (NORD) says it’s “disappointed and dismayed” after the House of Representatives voted 227-205 last week to repeal the Orphan Drug Tax Credit as part of a U.S. tax reform package. A similar package before the Senate Finance Committee does not repeal the credit…

Krystal Biotech recently announced that its leading investigational therapy for epidermolysis bullosa, KB103, has received clearance from the Recombinant DNA Advisory Committee. Krystal Biotech is a gene therapy company developing new therapeutics for dermatological diseases including epidermolysis bullosa. Its lead candidate KB103 is being studied as a potential treatment for dystrophic epidermolysis…

A 7-year-old boy with life-threatening epidermolysis bullosa has German and Italian researchers to thank for acquiring a new skin — and with it, the potential for a normal life. The team used genetically modified skin stem cells to grow new skin, which was successfully transplanted on 80 percent of the boy’s…

A potential gene therapy for dystrophic epidermolysis bullosa (DEB), KB103 by Krystal Biotech, has been designed an Orphan Drug by the U.S. Food & Drug Administration (FDA) to help it move along in preclinical testing. KB103 is the company’s lead candidate, and is intended to treat…