Editing sickle cell disease

Memphis, Tennessee, August 15, 2016

Mitchell J. Weiss, M.D., Ph.D.

Mitchell J. Weiss, M.D., Ph.D., chair of the St. Jude Department of Hematology and one of the study’s lead authors.

Despite improved therapies, patients with sickle cell disease often face recurring pain, organ damage and early death. The only cure is a bone marrow transplant, which has its own risks.

What if there were another option that involved just a few snips of the DNA to give patients lifelong relief?

Gene editing in blood-forming cells from sickle cell patients

An international team of scientists has used a technique called CRISPR gene editing to help fix the effects of sickle cell disease.  The approach has yet to be tested in patients, but it may be getting closer to the clinic.

The St. Jude-led team “edited,” or made specific genetic changes in, blood-forming cells from sickle cell patients. The changes were designed to mimic mutations found in a genetic condition called hereditary persistence of fetal hemoglobin (HPFH). HPFH is a harmless condition known to ease symptoms in patients with sickle cell disease.

After editing, red blood cells with the HPFH-like changes were healthier and less likely to become misshapen or sickled.

“This work offers proof-of-principle for a possible approach to treat sickle cell and related disorders like beta-thalassemia,” said Mitchell Weiss, MD, PhD, of St. Jude Hematology. The technique adds to a growing list of innovative gene editing strategies being studied as possible therapies for patients with blood disorders.

The next challenge will be to pursue the safest and most effective option to deliver a cure.

The work was published in the journal Nature Medicine.

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