Studying “Stone Man Syndrome,” Scientists Inadvertently Improve Cellular Reprogramming

While studying a rare genetic disease, researchers discovered a signaling pathway linked to the efficiency of reprogramming somatic cells into stem cells.

Written byBen Andrew Henry
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GLADSTONE INSTITUTES, CHRIS GOODFELLOW

Thanks to a chance discovery, researchers have found a more efficient way to create induced pluripotent stem cells (iPSCs), which are widely used in regenerative medicine research and drug development. The discovery comes from Shinya Yamanaka, the scientist who first created iPSCs in 2006, along with his colleagues at the Gladstone Institutes, and was published in PNAS this week (October 24).

The scientists were originally studying fibrodysplasia ossificans progressiva (FOP), a rare disease in which muscles, tendons, and ligaments turn into bone—a debilitating process for which the disease is called “stone man syndrome.” The researchers hoped to create a cellular model to parse the effects of specific gene mutations, according to a press release, but in the process they discovered that skin cells from FOP ...

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