Using CRISPR-Cas9 gene editing tool to fix the mutated gene responsible for the sickle cell disease offers a promising approach to treating the disorder that can lead to anaemia, painful blood blockages and early death.
In sickle cell disease, a mutation in the beta-globin gene can result in deformed red blood cells. This leads to obstruction in the capillaries and painful episodes for patients.
In this study, using the gene editing tool, the researchers corrected the mutation in a proportion of stem cells that is high enough to produce a substantial benefit in sickle cell patients.
The researchers believe that re-infusing patients with the edited stem cells could help alleviate symptoms of the disease.
"We're very excited about the promise of this technology," said senior author of the study Jacob Corn from the University of California, Berkeley.
"There is still a lot of work to be done before this approach might be used in the clinic, but we're hopeful that it will pave the way for new kinds of treatment for patients with sickle cell disease," Corn noted.
In tests in mice, the genetically engineered stem cells stuck around for at least four months after transplantation, an important benchmark to ensure that any potential therapy would be lasting.
"This is an important advance because for the first time we show a level of correction in stem cells that should be sufficient for a clinical benefit in persons with sickle cell anaemia," study co-author Mark Walters from the University of California San Francisco Benioff Children's Hospital Oakland Research Institute said.
The results were reported online in the journal Science Translational Medicine.