A rare genetic disease is getting its moment in the limelight thanks to researchers at the School of Medicine. These scientists have found that dyskeratosis congenita, which impacts approximately one in a million people, can be imitated using undifferentiated induced pluripotent stem (iPS) cells.

Prior research shows that the rapid shortening of telomeres, the protective caps found at the end of chromosomes, causes dyskeratosis congenita. In Stanford’s most recent study, published this week in Nature, associate professor of medicine Steven Artandi and his colleagues used skin cells from five patients with varying severities the disease to create iPS cells.

They then used the iPS cells to explain why those suffering from dyskeratosis congenita experience differing symptoms and differing severities in these symptoms. Commonly cited symptoms include abnormal skin pigmentation, nail growth, lung scarring, bone marrow failure as well as cancer.

According to the Stanford researchers, a crucial element is the activity of telomerase, an enzyme that is important to aging and cell renewal.

“We were very surprised to find such a clear correlation between the quantity of functional telomerase, the severity of the cellular defect and the severity of the patient’s clinical symptoms,” Artandi said in a press release. “Our work suggests that, in patients with dyskeratosis congenita, tissue stem cells are losing their ability to self-renew throughout the body. This is a new, unifying way to think about this disease, and it has important implications for many other conditions.”

Equally important, researchers say that studying how telomerase influences self-renewal may also contribute to existing knowledge on aging and disease. The scientists intend to continue to create new iPS cells to further understand cellular self-renewal.

The National Institutes of Health and the California Institute for Regenerative Medicine financed the study.

— An Le Nguyen