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Half a year has gone by since disgraced pharma executive Martin Shkreli was sentenced to seven years in federal prison for securities and wire fraud while heading San Diego-based Retrophin. As founder and CEO of another company (then known as Turing Pharmaceuticals), in late 2015 Shkreli bought the rights…

A new gene-editing approach can repair a mutation responsible for recessive dystrophic epidermolysis bullosa (RDEB) in a patient’s tissue. A full description of the technique is in the study “Ex Vivo COL7A1 Correction for Recessive Dystrophic Epidermolysis Bullosa Using CRISPR/Cas9 and Homology-Directed Repair,” recently published in the…

A low dose of calcipotriol, which is already approved for the treatment of psoriasis, may improve healing and prevent wound infections in patients with recessive dystrophic epidermolysis bullosa (RDEB), a study showed. Treatment with calcipotriol ointment helped close a chronic…

Fibrocell received $1.4 million from the U.S. Food and Drug Administration’s Office of Orphan Products Development (OOPD) to support the company’s ongoing clinical trials testing its FCX-007 for the treatment of recessive dystrophic epidermolysis bullosa (RDEB). In collaboration with Precigen (a wholly owned subsidiary of…

More than 700 medical experts, pharmaceutical executives, patient advocates, and others are expected to converge on Washington, D.C., next month for the 2018 NORD Rare Diseases & Orphan Products Breakthrough Summit. The Oct. 15-16 event, sponsored by the National Organization for Rare Diseases (NORD), takes place at the…

Despite broken bones and all manner of inclement weather, Robb Freed is seven months and 7,000 miles into his super-human quest to bike across the United States and back to raise awareness of epidermolysis bullosa (EB). His 13-month-old son died from the disease 10 years ago. Freed’s on the…

A family of enzymes with genome-editing function to enhance immune system responses are driving the high rate of skin cancer in patients with recessive dystrophic epidermolysis bullosa (RDEB), a new study shows. The study also reports that the type of mutations present in RDEB skin tumors are closer to…

U.S. residents with some types of inherited epidermolysis bullosa (EB) can now participate in Amryt Pharma‘s Phase 3 trial testing AP101 (Oleogel-S10), an experimental treatment for EB. This comes in the wake of the U.S. Food and Drug Administration granting investigational new drug (IND) clearance to AP101. The…

A recent study using technology that powers NantOmics‘ comprehensive GPS Cancer test confirmed that chronic inflammation caused by the inherited childhood skin disease recessive dystrophic epidermolysis bullosa (RDEB) can lead to a rare form of skin cancer known as squamous cell carcinoma (SCC). The study, “APOBEC mutation…

New York-based EB Research Partnership (EBRP), along with the EB Research Foundation in Australia, announced a global collaboration that aims to develop lifesaving treatments for patients with epidermolysis bullosa (EB). Under the rules of the partnership, the EB Research Foundation will help fund the EBRP’s independent Scientific Advisory Board (SAB).

Treatment with a wound care ointment called Terrasil reduced pain, itching, and blistering in the wound area in a patient with a long history of junctional epidermolysis bullosa (JEB), according to a new case report. The study, “Epidermolysis bullosa: a case report,” published in the…

Lena Riedl, 24, has had epidermolysis bullosa (EB) since birth. Despite the suffering, she’s managed to turn her genetic “butterfly disease” into a career while inspiring her father, Rainer Riedl, to launch the world’s first dedicated EB clinic in her native Austria. The cheerful young woman is a communications and…