From bedside to bench--reverse translational medicine. Scientific lessons from revertant mosaicism in 'knockout' humans

While the transition from basic life science research to clinical applications is often much more cumbersome than promised, Gostynski et al. took the opposite approach and demonstrated how a scholarly, biology-guided perspective on human skin disease can reveal basic principles of human biology. Hereditary blistering diseases represent not only a disastrous fate for affected patients, but also an opportunity for understanding human molecular physiology and pathophysiology. On the basis of their clinical expertise, Gostynski et al. have elegantly used differences between lesional and non-lesional as a unique opportunity to dissect the role of structural skin proteins – namely type XVII collagen, laminin β3 and type VII collagen – in melanocyte biology, thus elucidating a new concept in melanocyte biology by transferring knowledge in reverse direction from bedside to bench.