The meeting highlighted the diverse array of cell-based approaches that are being pursued to study human biology and disease, including those (e.g., somatic mosaicism) that illustrated the possibilities and potential limitations of these technologies. Our group was heartened that we are seeing clear disease-related phenotypes in the dish, giving some confidence that discoveries (such as those reflecting early stages in disease processes) would be clinically relevant. Moreover, as such discoveries are being made, unexpected findings are emerging, but the convergence and reproduction among labs improve our group’s optimism that these are robust results and that human cells will be a powerful tool in the therapeutic development armament. Moving forward, a critical application of hiPSC-based studies will be in providing a platform for defining the cellular, molecular, and genetic mechanisms of disease risk, which will be an essential first step toward target discovery. Toward this goal, the case studies discussed demonstrated that different assay systems could yield a surprising convergence of phenotypes, leading to some optimism that the considerable remaining technical challenges to modeling disease are still surmountable.
