Breakthrough Gene-Editing Experiment In Humans Shows 'Encouraging' Preliminary Results

Genetic disorders impact the lives of millions of people around the globe. One day doctors hope to change that by going inside the human body to edit out disorders from human DNA. Early results from the first experiment to do this in the human genome are now showing promising preliminary results for treating a rare disorder.

Researchers from the University of North Carolina, Chapel Hill have been working on a new study to alter the genome of patients who suffer from the rare metabolic disorder Hunter syndrome.

“I developed a mouse model for Hunter syndrome at UNC about twenty years ago to help develop therapies for this rare disorder,” the study’s leader Dr. Joseph Muenzer of the University of North Carolina, Chapel Hill said in a statement. He explained that being able to replicate this technique in humans has been extremely gratifying.

The Associated Press reported that the first results of this study are encouraging. Just four months after receiving a medium dose of the treatment, urine samples from two patients showed that sugar compounds that are markers of Hunter syndrome had decreased by half.

The researchers can’t say yet for sure if the treatment is working, but the initial results are positive, Muenzer said.

More time is still needed to see how the subjects’ immune systems reacts to the doses, Dr. Matthew Porteus, a genetics expert at Stanford University, told the Associated Press.

Porteus added that based on these preliminary results he “would be excited about continuing to push along.”

The experiment is looking at six individuals with Hunter syndrome, a condition caused by a lack of a gene that makes an enzyme needed to break down complex sugar molecules. Those molecules can then build up and wreck havoc throughout the body.

Symptoms include joint stiffness, heart disease, and severe cases cause cognitive impairment.

“Gene therapy has the potential to dramatically improve the quality of life for individuals with Hunter syndrome," Muenzer said. 

Through an IV transfusion, the subjects of the study received doses of a corrective gene and a gene-editing tool to insert the new gene in a precise location.

“We can now have the liver produce the missing enzyme and thereby prevent all the toxic effects we see in Hunter syndrome,” Muenzer said.

“It’s still very early in the clinical trail to be too positive, but at the same time, I am still very encouraged by what we have seen to date,” he added.

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