The recent advances in DNA sequencing technologies have led to an ever increasing number of human genetic studies that have identified numerous candidate loci that are correlated with many diseases. There is therefore a pressing need for simple, robust models of disease that can be applied to understand the functionality of such genetic lesions. It is clear that the intersection of iPSC and genome editing technologies will provide powerful tools to study such diseases in a human cellular system. The use of a human system has many advantages, especially in terms of studying the majority of disease-associated mutations that do not reside within protein coding genes, and for which conservation is not sufficient to allow direct comparisons to be made in other organisms. The ability to be able to derive cells from multiple patient genotypes and the ability to obtain such cell lines from repositories around the world will provide invaluable opportunities to investigate the link between genotype and phenotype. Genome editing will form an essential component of such studies, to revert or introduce desired genetic mutations to understand their
