Discovery of genetic target offers hope for sickle cell disease therapies

October 18, 2013 at 2:21 pm

A research team from Dana-Farber/Boston Children’s Cancer and Blood Disorders Center and other institutions discovered a new genetic target that could lead to new therapies to treat sickle cell disease (SCD). SCD, an inherited blood disorder characterized by defective hemoglobin, affects millions around the world and an estimated 80,000 – 90,000 in the United States.

The researchers — led by Daniel Bauer, MD, PhD, and Stuart Orkin, MD, of Dana-Farber/Boston Children’s —reported their findings last week in the journal Science.

They learned that a target, called an enhancer, controls a molecular switch in red blood cells that regulates hemoglobin production. When this switch is turned off, red blood cells can produce fetal hemoglobin that is unaffected by the sickle cell mutation, counteracting the damage done by the sickle hemoglobin.

More work remains to ensure that targeting this switch directly in sickle cell patients would not bring unwanted consequences along with the benefits. Still, the discovery opens up the possibility that the switch could be targeted to improve the prognosis of people suffering from the disease. “This finding gives us a very specific target for sickle cell disease therapies,” said Orkin, the chair of pediatric oncology at Dana-Farber Cancer Institute. “Coupled with recent advances in technologies for gene engineering in intact cells, it could lead to powerful ways of manipulating hemoglobin production and new treatment options for hemoglobin diseases.”

The study was supported by the National Heart, Lung and Blood Institute, the National Institute of Diabetes and Digestive and Kidney Diseases, the Doris Duke Charitable Foundation and the Howard Hughes Medical Institute.