CRISPR Editing Appears Effective in Three Patients with Rare Diseases

According to a story from, the capabilities of CRIPSR gene editing technology have been creating a buzz in the medical field for years now, with many seeing the technology as a key component of treating genetic diseases in the future. Continued headway is being made in making the technology suitable for regular use, and in a recent study, CRISPR was used to treat three patients, and so far the attempt looks successful. 

The patients in question include two that had beta thalassemia, a rare blood disorder. These patients were dependent on blood transfusions for treatment. The third patient was living with sickle cell disease and was dealing with severe symptoms.

About Beta Thalassemia

Beta thalassemia is a group of genetic disorders which affect the blood. Symptoms of beta thalassemia major, the most severe form, include spleen problems, skeletal abnormalities, poor growth, anemia, liver problems, diabetes, osteoporosis, and heart failure. Treatment for beta thalassemia may include blood transfusions, surgery, and bone marrow transplant, which can be curative for some children. To learn more about beta thalassemia, click here.

About Sickle Cell Disease

Sickle cell disease is a genetic, inherited disorder of the blood. This disorder is characterized by an abnormality affecting hemoglobin, which is found in red blood cells and is responsible for carrying oxygen. The abnormality causes blood cells to lose their typical circular shape and instead take on an elongated, sickle-like appearance. Symptoms begin to appear at around six months old and include swelling of the hands and feet, stroke, bacterial infections, and acute episodes of severe pain termed sickle cell crisis. Severity of disease varies, but these attacks can result in serious declines in health and organ damage. Treatment is mostly symptomatic, but bone marrow transplant has been curative in children. To learn more about sickle cell disease, click here.

About The Study and Treatment Process

In the study, the patients underwent genetic editing of their bone marrow stem cells using CRISPR. The goal of the editing process in this case was to reactivate the production of fetal hemoglobin as a way to compensate for the altered hemoglobin present in the patients. Some patients carry the genetic mutation for beta thalassemia but have practically no symptoms because they continue to produce fetal hemoglobin. This discovery was the inspiration behind the approach.

The treatment process was no cake-walk as the patients first endured a powerful course of chemotherapy with the goal of wiping out their old bone marrow stem cells so that the new ones will be able to take over. Needless to say, this is the most risky aspect of the procedure, as patients will require lifelong monitoring and are at risk of side effects such as hair loss, infections, appetite loss, vomiting, and infertility.

Still, the results look very promising so far, with study authors calling the operation a “functional cure” for the three patients. Both beta thalassemia patients were transfusion independent by 15 months and the sickle cell disease patient experienced no further sickle cell crises after nine months.

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