Genetics, genomics and the power of stem cells to identify novel treatment options in complex diseases

The advances in human genetics enabled through the implementation of the latest sequencing technologies have the potential to dramatically change the landscape of medicine. As we decipher the polymorphic structure of the genome, the next challenge will focus on understanding the complex functional implications in the context of health and disease. Multiple approaches will be necessary to evaluate genome variation. While computational analyses serve as a starting point and can predict functional effects in silico, further direct functional studies will be required. The development of technologies to generate induced pluripotent stem cells represents one of these approaches. With growing evidence that these cells and derived tissues resemble phenotypes observed in patients, this approach holds tremendous potential for both diagnosis and treatment. While further studies are required to better understand the underlying mechanisms and to improve the methodology for generating induced pluripotent stem cells, this technology appears to be a powerful tool for the functional evaluation of genome variation, drug screening, risk prediction and advanced diagnostics.