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Cell therapy with genetically engineered skin grafts requires that collagen type VII be “corrected” in two types of skin cells — keratinocytes and fibroblasts — to be effective against recessive dystrophic epidermolysis bullosa (RDEB), a study in mice has found. Researchers saw that only skin models made of collagen…
Rare diseases deeply affect not only the children who experience them, but also their healthy brothers and sisters, as their parents can attest. Two entries in November’s “Disorder: The Rare Disease Film Festival” will focus on what siblings go through, according to the San Francisco festival’s co-founder,…
RegeneRx Biopharmaceuticals announced the first patient enrolled in a Phase 2 clinical trial of RGN-137, the company’s investigational topical gel for treating epidermolysis bullosa (EB), achieved complete wound healing. RGN-137 is a gel form medication intended to accelerate wound healing when applied directly on skin lesions. It is…
Developing gene therapies for rare diseases is one thing. Creating gene-edited “designer babies” is quite another. German legal expert Timo Minssen outlined the potentially explosive ethical landmines surrounding such issues during a recent talk at the New York Genome Center. Minssen directs the Center for Advanced Studies in…
Injection of mesenchymal stromal cells (MSCs) — cells that can be isolated from several tissues and may grow into different cell types when cultured in a lab dish — may prevent localized skin blistering sometimes seen in recessive dystrophic epidermolysis bullosa (RDEB), a study says. Results from the study,…
Imagine living your whole life with a painful disease so rare that only 25 others worldwide have what you have. And that you’re one of just six such people who’ve made it to adulthood. Neena Nizar doesn’t have to imagine. The 41-year-old English professor at Metro Community College in Elkhorn,…
Amryt Pharma is conducting a Phase 3 clinical trial evaluating the effectiveness and long-term safety of Oleogel-S10 (AP101), a topical formulation of birch bark extract, for accelerating wound healing in patients with epidermolysis bullosa (EB). EASE is a pivotal study designed to support regulatory submissions seeking approval…
With its lead therapy candidate AGLE-103 set to begin clinical testing in the coming months, Aegle Therapeutics is being honored with a Partners in Progress Award by the Dystrophic Epidermolysis Bullosa Research Association of America (Debra of America). Aegle is among three companies being recognized for its efforts to…
Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…
Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…
An experimental cell therapy where a patient’s own skin cells (fibroblasts) are engineered in the lab to carry a healthy COL7A1 gene and then injected back into the patient is safe and potentially efficacious for treatment of recessive dystrophic epidermolysis bullosa (RDEB), a new study shows. The study, “…
Transplanting a patient’s own healthy skin to treat their skin ulcers was found to be safe and effective for three people with recessive dystrophic epidermolysis bullosa (RDEB) for more than one year, a clinical trial shows. The study, “Cultured epidermal autografts from clinically revertant skin as…
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