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Salk researchers develop safe way to repair sickle cell disease genes
Date:12/7/2011

LA JOLLA, CA ---- Researchers at the Salk Institute for Biological Studies have developed a way to use patients' own cells to potentially cure sickle cell disease and many other disorders caused by mutations in a gene that helps produce blood hemoglobin.

The technique uses cells from a patient's skin to generate induced pluripotent stem cells (iPSCs), which are capable of developing into various types of mature tissues -- including blood. The scientists say their method, which repairs the beta-globin gene (HBB), avoids gene therapy techniques that can introduce potentially harmful genes into cells.

The new technique, which will soon be tested as a therapy in animals, also appears to be much more efficient than other methods tested to date, the researchers say.

"Our findings set the stage for the development of iPSC-based therapies for devastating genetic disorders such as sickle cell disease," says the study's principle investigator, Juan Carlos Izpisua Belmonte, a Salk professor and head of the Gene Expression Laboratory.

Sickle cell disease is a group of inherited blood disorders caused by genetic mutations in the HBB gene, resulting in abnormal hemoglobin, the iron-containing protein that normally allows blood cells to carry oxygen. This causes red blood cells to become hard and sticky and resemble a curved farm tool called a "sickle." In the two leading disorders caused by HBB mutations, sickle cell anemia and beta thalassemia, red blood cells can't effectively carry oxygen.

Symptoms of sickle cell disease include swelling of the hands and feet, pain due to clogging of blood vessels, anemia and stroke.

The disorders are most common among people of African, Mediterranean and Middle Eastern decent. One in every 500 African Americans and one in every 30,000 Hispanic Americans are born with sickle cell disease, according to the Centers for Disease Control and Prevention.

The disease can be cured wit
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Contact: Andy Hoang
ahoang@salk.edu
619-861-5811
Salk Institute
Source:Eurekalert  

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