Reports launched June 4, 2013, and in celebration of the journal’s fifth birthday, we asked authors to update us on some of the journal’s classic papers.
The studies below reflect just a handful of stories about how stem cell research is rapidly advancing—and how it is already helping patients. You’ll find case studies in collaboration and creative thinking, common traits of Stem Cell Reports authors and members of the International Society for Stem Cell Research. We hope they leave you feeling inspired.
Regrowing skin for patients with epidermolysis bullosa
A rare inherited mutation in the gene COL7A1, which affects collagen’s ability to connect the epidermis to the dermis, results in a painful and potentially deadly group of skin conditions called epidermolysis bullosa. Curious whether a stem-cell-based gene therapy approach could help people born with this mutation, in 2006 Michele De Luca and colleagues at the University of Modena and Reggio Emilia in Italy conducted a phase I/II clinical trial in which they took skin stem cells from the palm of a male patient with epidermolysis bullosa, corrected the genetic defect in these cells with a virus, and then transplanted the edited cells onto a relatively small patch of upper leg skin.
In December 2013, the researchers followed up on the patient’s condition in Stem Cell Reports: the treatment resulted in long-term restoration of normal skin function, and his upper legs looked normal and did not show signs of blisters or tumor development. In 2015, the study caught the attention of a surgeon trying to help a 7-year-old boy with a life-threatening case of epidermolysis bullosa, who reached out to De Luca’s team about a potential collaboration. His group would insert the healthy COL7A1 gene into stem cells taken from the boy’s skin, grow them into sheets, and then send them to the surgeon, in Germany, for transplantation onto the patient’s limbs and back. As reported last fall in the journal Nature, his skin is now smooth and heals normally.
See full information