Genetic base editing shows promise for treatment of sickle cell disease

Sickle cell disease is the most common deadly genetic disorder. It results from a mutation that causes normally pliable red blood cells to become brittle and sickle shaped. This leads to pain, organ damage and early death.

A team of scientists led by Mitchell J. Weiss, MD, PhD, and Jonathan Yen, PhD, at St. Jude, and David Liu, PhD, and Greg Newby, PhD, at the Broad Institute in Boston, have advanced a new therapy. They used a method called base editing to change the mutation. The resulting red blood cells were less prone to sickling.

In the lab, researchers used the process to successfully edit blood stem cells from people with sickle cell disease. They also used base editing to change the mutation in mice with sickle cell disease. The process eased blood and organ abnormalities in mice with sickle cell disease.

“More research is needed, but the study does suggest that this base-editing approach may be a one-time treatment or possibly a cure for sickle cell disease,” Weiss said.

Nature published a report on this work.