Tang Wei
National Center for Global Health and Medicine, Tokyo, Japan.
Intractable Rare Dis Res. 2018 May;7(2):72. doi: 10.5582/irdr.2018.01048.
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 , 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.
对于罕见病而言，如何模拟其病理进展对于更好地理解分子机制和识别潜在靶点至关重要。诱导多能干细胞（iPSC）技术为在体外获得疾病相关细胞提供了理想模型。在本期杂志中，建立了苯丙酮尿症和18三体综合征这两种先天性疾病的iPSC模型，并在这些罕见病的研究中展现出了巨大潜力。
