Is gene therapy the answer to sickle cell disease? An experimental treatment that promises to correct the condition at the genetic level has already shown great promise in a clinical trial.

Gene Therapy To Encourage Healthy Hemoglobin Production

In Boston, researchers from the Dana-Farber Boston's Children's Cancer and Blood Disorder Center have found a way to use gene therapy and "flip the switch" in red blood cells of an adult patient.

"We're following very closely but we feel optimistic about the results so far," said Erica Esrick, co-principal investigator in the clinical trial to Boston Herald. "That is our hope for this study — that it is a curative approach."

Sickle cell disease is an inherited condition that causes the hemoglobin in the blood, which is responsible for the delivery of oxygen throughout the body, to form into sickle shapes. As a result, the misshapen blood cells get stuck in blood cells, leading to organ damage, episodes of agonizing pain, and stroke.

The experimental treatment offers to address the problem of sickle cell disease by removing the stem cells of the patients from their bone marrow. The stem cells are genetically modified and then infused back to the body to induce the production of healthy "fetal" hemoglobin, which is found in newborn babies and does not sickle.

"We've known for decades that hemoglobin is different in a fetus — it doesn't sickle, and it works as well as adult hemoglobin," said Stuart Orkin, a researcher at Harvard University who found that hemoglobin switches from fetal to adult.

A Cure For Sickle Cell Disease?

The patient, an adult man, who enrolled in the clinical trial, has received the infusion of his own stem cells last year, according to the researchers. In a report published in December, researchers at Dana-Farber Boston Children's Cancer and Blood Disorder Center shared that the patient has not experienced symptoms since the procedure, has an increased level of fetal hemoglobin, and has so far no demonstrable sickled cells in his blood.

The researchers hope to continue trying the experimental treatment to adults before they rolled it out to teens and children.

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