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Correcting sickle cell disease with stem cells
Date:9/28/2011

Using a patient's own stem cells, researchers at Johns Hopkins have corrected the genetic alteration that causes sickle cell disease (SCD), a painful, disabling inherited blood disorder that affects mostly African-Americans. The corrected stem cells were coaxed into immature red blood cells in a test tube that then turned on a normal version of the gene.

The research team cautions that the work, done only in the laboratory, is years away from clinical use in patients, but should provide tools for developing gene therapies for SCD and a variety of other blood disorders.

In an article published online August 31 in Blood, the researchers say they are one step closer to developing a feasible cure or long-term treatment option for patients with SCD, which is caused by a single DNA letter change in the gene for adult hemoglobin, the principle protein in red blood cells needed to carry oxygen. People who inherited two copies -- one from each parent -- of the genetic alteration, the red blood cells are sickle-shaped, rather than round. The misshapen red blood cells clog blood vessels, leading to pain, fatigue, infections, organ damage and premature death.

Although there are drugs and painkillers that control SCD symptoms, the only known cure -- achieved rarely -- has been bone marrow transplant. But because the vast majority of SCD patients are African-American and few African-Americans have registered in the bone marrow registry, it has been difficult to find compatible donors, says Linzhao Cheng, Ph.D, a professor of medicine and associate director for basic research in the Division of Hematology and also a member of the Johns Hopkins Institute for Cell Engineering. "We're now one step closer to developing a combination cell and gene therapy method that will allow us to use patients' own cells to treat them."

Using one adult patient at The Johns Hopkins Hospital as their first case, the researchers first isolated the
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Contact: Vanessa McMains
vmcmain1@jhmi.edu
410-502-9410
Johns Hopkins Medical Institutions
Source:Eurekalert

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