Modeling the rare diseases process in dish

Abstract

For rare diseases, how to mimic the pathological progression is of importance for better understanding the molecular mechanism and identifying potential targets. Induced pluripotent stem cells (iPSCs) technology provides an ideal model to in vitro obtain the diseases-associated cells. In this issue of Intractable & Rare Diseases Research, two birth detect diseases iPS models on phenylketonuria and trisomy 18 were established, and have demonstrated great potential in the research on these rare diseases.