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Stem Cells and Disease Modelling

 
  January, 13 2009 18:26
your information resource in human molecular genetics
 
     

Scientists have generated pluripotent stem cells from the skin cells of a patient with spinal muscular atrophy (SMA), and show that these cells can be used to model the specific pathology for inherited diseases. The research, published online in Nature, represents a promising tool for understanding disease at a cellular level and also for drug screening.

SMA is a genetic disorder, and one of the most common inherited forms of neurological disease in children. Allison Ebert and colleagues use skin cells from a child with SMA and his unaffected mother. They show, for the first time, that human induced pluripotent stem cells can be used to model the disease mechanisms, as the differentiated neural tissue and motor neurons derived from these cells maintain the disease phenotype. The cultures also responded to drugs known to increase the levels of the protein associated with the disease. This creates a tool for studying disease pathology at the cellular level, and for developing and screening new drugs and therapies.

Author contact:

Allison Ebert (University of Wisconsin-Madison, WI, USA)
E-mail: ebert@waisman.wisc.edu

Abstract available online.

(C) Nature press release.


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