EMBO: A team of European researchers has devised a strategy to ensure that 
adult epidermal stem cells are safe before they are used as treatments 
for patients. The approach involves a clonal strategy where stem cells 
are collected and cultivated, genetically modified and single cells 
isolated before being rigorously tested to make sure they meet the 
highest possible safety criteria. The strategy, which is published 
online in EMBO Molecular Medicine, is inspired by the 
approaches the biotechnology industry and regulatory affairs authorities
 have adopted for medicinal proteins produced from genetically 
engineered mammalian cells.
 
“Until now there has not been a systematic way to ensure that adult 
epidermal stem cells meet all the necessary requirements for safety 
before use as treatments for disease,” says EMBO Member Yann Barrandon, 
Professor at Lausanne University Hospital, the Swiss Federal Institute 
of Technology in Lausanne and the lead author of the study. “We have 
devised a single cell strategy that is sufficiently scalable to assess 
the viability and safety of adult epidermal stem cells using an array of
 cell and molecular assays before the cells are used directly for the 
treatment of patients. We have used this strategy in a proof-of-concept 
study that involves treatment of a patient suffering from recessive 
dystrophic epidermolysis bullosa, a hereditary condition defined by the 
absence of type VII collagen which leads to severe blistering of the 
skin.”
The researchers cultivated epidermal cells from the patient that can 
be used to regenerate skin. The scientists used their array of tests to 
determine which of the transduced cells met the necessary requirements 
for stemness – the characteristics of a stem cell that distinguish it 
from a regular cells – and safety. Clonal analysis revealed that the 
transduced stem cells varied in their ability to produce functional type
 VII collagen. When the most viable, modified stem cells were selected, 
transplantation onto immunodeficient mice regenerated skin that did not 
blister in the mouse model system for recessive dystrophic epidermolysis
 bullosa and produced functional type VII collagen. Safety was assessed 
by determining the sites of integration of the viral vector, looking for
 rearrangements and hit genes, as well as whole genome sequencing.
“Our work shows that at least for adult epidermal stem cells it is 
possible to use a clonal strategy to deliver a level of safety that 
cannot be obtained by other gene therapy approaches. A clonal strategy 
should make it possible to integrate some of the more recent 
technologies for targeted genome editing that offer more precise ways to
 change genes in ways that may further benefit the treatment of disease.
 Further work is in progress in this direction.”
A single epidermal stem cell strategy for safe ex vivo gene therapy
Stéphanie Droz-Georget Lathion, Ariane Rochat, Graham Knott, 
Alessandra Recchia, Danielle Martinet, Sara Benmohammed, Nicolas 
Grasset, Andrea Zaffalon, Nathalie Besuchet Schmutz, Emmanuelle 
Savioz-Dayer, Jacques S. Beckmann, Jacques Rougemont, Fulvio Mavilio and
 Yann Barrandon
Read the paper: