News

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…

The gene therapy company Krystal Biotech has received a $700,000 equity-based award from the Epidermolysis Bullosa Research Partnership (EBRP) and the Epidermolysis Bullosa Medical Research Foundation (EBMRF) to continue developing a treatment for dystrophic epidermolysis bullosa (DEB). EBRP and EBMRF are nonprofit organizations dedicated to funding medical research in…

The biopharmaceutical company BERG was honored with a Partners in Progress Award from the Dystrophic Epidermolysis Bullosa Research Association of America (debra of America). The award recognized BERG’s efforts in developing new therapeutic strategies for epidermolysis bullosa (EB). “We’re honored to be recognized by debra…

Children’s National Health System no longer treats just kids. Its Rare Disease Institute, launched in April 2017, has partnered with the National Organization for Rare Disorders (NORD) to become the first of many U.S. “centers of excellence” to look after patients with rare diseases, regardless of age. The effort…

More therapies are now available for the 30 million or so people with rare diseases in the U.S. than ever before, and millions of dollars are being invested in clinical studies that will test new ways of evaluating — and advancing — potential treatments, including the use of natural history…

As Congress begins debate this week to overhaul the U.S. tax code, lawmakers should leave the Orphan Drug Act (ODA) — and the tax incentives it offers pharmaceutical companies to develop therapies for rare diseases — off the table. That’s the message being pushed by the National Organization for…

New mutations in KRT5, the gene coding for keratin 5, one of the major structural components of the skin epidermis, account for previously unsolved cases of basal epidermolysis bullosa simplex (EBS), a study has found. Mutations in the genes KRT5 and KRT14, which code for keratins 5 and 14, are…