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Researchers Reprogram Skin Cells To Mimic Rare Genetic Disorder

Update Date: Aug 22, 2014 01:52 AM EDT

Biologists have devised a way to reprogram a patient's skin cells into cells that mimic and exhibit biological features of a rare genetic disorder called familial dysautonomia, according to a new study. 

The process involves growing the skin cells in a bath of proteins and chemical additives while turning on a gene to produce neural crest cells, which give rise to several adult cells types, the press release explained. 

According to researchers, the work  substantially expedites the creation of neural crest cells from any patient with a neural crest-related disorder.

The same team of researchers had produced customized neural crest cells by first reprogramming patient skin cells into induced pluripotent stem (iPS) cells. iPS cells are similar to embryonic stem cells in their ability to become ay of a broad array of cell types. 

"Now we can circumvent the iPS cells step, saving seven to nine months of time and labor and producing neural crest cells that are more similar to the familial dysautonomia patients' cells," says Gabsang Lee, Ph.D., an assistant professor of neurology at the Institute for Cell Engineering and the study's senior author.

Researchers added that the findings offer insight into what goes wrong in familial dysautonomia. 

"It seems as though the neural crest cells created directly from patient skin cells show more of the characteristics of familial dysautonomia than the neural crest cells we created previously from induced pluripotent stem cells," Lee added. "That means they should be better predictors of what happens in a particular familial dysautonomia patient, and whether or not a potential treatment will work for any given individual."

The newly devised method might be applicable to skin cells taken from people with any of the other diseases that result from dysfunctional neural crest cells, like congenital pain disorders and Charcot-Marie-Tooth diseases, researchers added. 

The study has been released in the journal Cell Stem Cell. 

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