Stem cells have been induced from patients with an extremely rare neurological disorder and their particular gene expression examined. The researchers not only gained insights into the disease, familial dysautonomia (FD), but went on to test the potency of potential drugs on the cells (see Nature).
FD is a genetic condition that affects the nervous system, with the most common symptoms being reduced sensitivity to pain and temperature and the inability to produce tears. It affects major systems in the body and causes heart, breathing, digestive and vision problems.
Lorenz Studer and colleagues show the cells had low levels of the IKBKAP gene, which may suggest a mechanism for the disease at a cellular level. They also reveal defects in differentiation and migration of cells to the nervous system, which seem to be characteristic of the disease. The team goes on to use the induced cells to validate the activity of various candidate drugs, illustrating the potential of this technology for modelling therapies using patient-specific cells.
Lorenz Studer (Sloan-Kettering Institute for Cancer Research, New York, NY, USA)
Abstract available online.
(C) Nature press release.
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