Tag Archive for 'Fanconi anemia'

Stem cell-gene therapy technique cures genetic disease in human cell line

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Stem Man
on 3 June 2009
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Salk Institute for Biological Studies
Image by JohnnyRokkit via Flickr

Scientists are one step closer to creating a gene therapy/stem cell combination to combat genetic diseases. With work, this research may lead to not only curing the disease, but also repairing the damage left behind.

While gene therapy is a burgeoning field that has shown great results in treating genetic disorders, many of those diseases leave behind heavily damaged tissue that the body is unable to repair. So even if the disease is completely eradicated, quality of life may not necessarily improve, and without help, health can still continue to deteriorate.

Since stem cell research began, there has been a hope that use of those cells may help alleviate some of the trauma left behind by genetic diseases. While the theory has been shown to work in mice, this is the first time a human cell line has confirmed that it is possible the therapy will work for humans as well.

Researchers at the Salk Institute for Biological Studies in La Jolla, California, chose to focus on Fanconi anemia (FA), a genetic disorder that is characterized by short stature, bone marrow failure, irregularities in blood cells that can lead to clotting, and an increased risk of leukemia. Even after gene therapy and “bone marrow transplants to correct the hematological [blood] problems, patients remain at high risk of developing cancer and other serious health conditions.”

The Nature-published technique employed by Juan-Carlos Izpisúa Belmonte’s team was two-fold. First, they collected hair and skin cells from those suffering from FA. These types of cells are known as somatic cells, and can be used to create induced pluripotent stem (iPS) cells. Once a hair cell has been transformed into an iPS cell, it can be coaxed to differentiate into virtually any cell in the human body.

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