Could genome editing be the cure for sickle-cell anemia?

Chuck Bednar for redOrbit.com – @BednarChuck

By introducing a beneficial, naturally occurring genetic mutation into the DNA of human red blood cells, researchers at the University of New South Wales (UNSW) Australia have come up with a technique that could ultimately lead to a cure for sickle-cell anemia.

As lead investigator Professor Merlin Crossley, dean of the UNSW science department, and his colleagues reported Thursday in the journal Nature Communications, the procedure activates an ordinarily sleeping gene only active in unborn children. As a result, production of oxygen-carrying hemoglobin is increased in red blood cells.

“An exciting new age of genome editing is beginning, now that single genes within our vast genome can be precisely cut and repaired,” Professor Crossley explained in a statement, adding that the study “provides a proof of concept that changing just one letter of DNA in a gene could alleviate the symptoms of sickle cell anemia and thalassaemia.”

Increasing oxygen collection by activating fetal hemoglobin

Crossley said that, since the genetic variation introduced by the research team occurs naturally, the approach should be both safe and effective, thought he emphasized that additional research was needed before it could actually be tested in humans as a potential cure for inherited blood disorders.

The study authors explained that people produce two different types of hemoglobin: a fetal kind of hemoglobin that has a high affinity for oxygen, allowing the growing child to collect oxygen from its mother’s blood, and an adult version that actives after birth. As many as five percent of adults worldwide carry a mutation that affects their hemoglobin genes, they said.

Individuals who inherit mutant genes from both patents have damaged hemoglobin and suffer from life-threatening conditions such as sickle cell anemia and thalassaemia – conditions that require patients to take medication and receive blood transfusions throughout their life. However, this technique could put an end to all of that.

They introduced a positive, single-letter mutation into human red blood cells keeping their fetal hemoglobin gene activated throughout their lives, and “significantly” reducing their symptoms, the professor explained. This was achieved by using genome-editing proteins called TALENs, and if proven safe, this method could offer considerable significant advantages over conventional gene therapy or other approaches to deal with these inherited blood disorders.

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