Just four years ago, scientists from the United States and Japan developed a way to create stem cells from human skin cells. Since then, researchers have used the technology to generate such cells from people with a variety of different diseases, including diabetes, Down syndrome, and Parkinson’s disease. By differentiating these cells into the cell type affected in the disease, scientists can search for molecular missteps unique to these cells. The findings are already beginning to shed light on these diseases and are being used as a tool to test new treatments.
Here, researchers created stem cells from patients with a rare neurological disease, familial dysautonomia, and then differentiated them into the specific neurons (shown labeled with red and blue markers) affected by the disease. They found that the cells did not differentiate into neurons as readily as cells derived from healthy people, nor did they migrate as easily as normal cells. Researchers used the cells to test a handful of potential treatments for the disorder, identifying one candidate that reversed the defect in differentiation.