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Patient Cells Yield Potential Therapies For Familial Dysautonomia


Induced pluripotent stem cells (iPSCs) from disease-afflicted patients have been touted for their ability to yield ‘disease-in-a-dish’ models for drug screening.  Now a team led by Lorenz Studer, M.D., at Memorial Sloan-Kettering has taken just such an approach to identify potential therapeutic compounds for familial dysautonomia (FD).  FD is a rare genetic disease that affects the neural lineages and is caused by a single mutation in the gene for I-k-B kinase (IKBKAP).  Dr. Studer’s group produced the first iPSC lines from FD patients just a few years ago.  Now they have demonstrated the power of their model by screening almost 7000 small-molecule compounds looking for rescue of IKBKAP.  Their approach yielded eight “hits,” at least one of which has greater potency than the best drug currently being tested for FD.  This report, published in Nature Biotechnology, is the first report of a large-scale drug discovery screen using an iPSC-derived disease model.  This work was supported by a NYSTEM IIRP award to Dr. Studer (C026447).

Lee G, Ramirez CN, Kim H, Zeltner N, Liu B, Radu C, Bhinder B, Kim YJ, Choi IY, Mukherjee-Clavin B, Djaballah H, Studer L. Large-scale screening using familial dysautonomia induced pluripotent stem cells identifies compounds that rescue IKBKAP expression. Nat Biotechnol. 2012 Dec 7;30(12):1244-8.