Scientists have created the first personalized stem cells for patients with a genetic disease by rewinding their skin cells to an embryonic state, according to a study published Thursday in the online edition of Science.
The researchers then converted some of those stem cells into the two kinds of brain cells that cause their crippling disease, amyotrophic lateral sclerosis, commonly known as Lou Gehrig’s disease.
Stem-cell experts said they were delighted — though not surprised — to see proof that the reprogramming technique worked on human cells from a sick patient. Previously, human versions of the so-called induced pluripotent stem cells had only been made from skin samples provided by healthy subjects.
“It is quite amazing and an important step that should allow the development of experimental and therapeutic interventions for this disease,” said Kathrin Plath, a researcher at the Broad Center of Regenerative Medicine and Stem Cell Research at UCLA, who was not involved in the study.
The new cells were derived from 3-millimeter patches of skin removed from the arm of an 82-year-old woman and her 89-year-old sister, who share a rare genetic mutation that causes about 2 percent of ALS cases.
The scientists from Harvard University and Columbia University focused on the rare form of ALS in part to test whether cells from elderly patients could be reprogrammed, said biologist Kevin Eggan of the Harvard Stem Cell Institute.
“This opens the door to being able to make patient-specific stem-cell lines from diseases which affect people very late in life, like Parkinson’s disease or Alzheimer’s disease,” said Eggan, the study’s senior author.
Eventually, the stem cells might be used to create fresh motor neurons that could replace the diseased cells in ALS patients. But many significant hurdles remain, including finding a way to reprogram the skin cells without relying on viruses or embryonic genes that cause mutations that can lead to cancer.
The research was funded in part by Project ALS and the New York Stem Cell Foundation.
