Genetic scissors are injected directly into the body to cure rare genetic diseases: Dong-A Science

He has successfully treated rare genetic diseases by directly injecting the CRISPR gene scissors, which is considered the answer to incurable genetic diseases, into the body.

Intellia, a US biotech company, revealed some of the results of a phase 1 study that showed it had succeeded in alleviating the symptoms of a rare genetic disease by injecting CRISPR into the blood at the ‘Bredikinin Symposium 2022’ held in Berlin, Germany on the 16th (local time) The same day, Science reported.

CRISPR is an enzyme that can edit the genome by cutting a specific part of a gene. It is attracting attention as a method of treating genetic diseases, which were once thought to be irreversible. In 2020, the Nobel Prize in Chemistry was awarded to two female scientists who developed CRISPR.

In the past, CRISPR has been used as an indirect method of collecting cells from patients, editing them in a laboratory, and then injecting them back into the body. This is because it is difficult to deliver CRISPR to specific organs or cells in the body through an intravenous injection. The research team wrapped CRISPR with lipid nanoparticles so that CRISPR can be stably delivered to the required location even when injected directly into a patient’s bloodstream.

Intellia conducted a phase 1 clinical trial in patients with hereditary angioedema. Hereditary angioedema is caused by mutations in the C1 esterase inhibitor protein. It is known that this protein is involved in the activity of the hormone ‘bradykinin’ which increases the permeability of blood vessels. People with this condition have increased levels of bradykinin and are at risk of severe swelling of the extremities, abdomen and neck, and in severe cases suffocation.

The research team removed the associated gene so that the protein (kallikrein) that raises bradykinin levels was not expressed with CRISPR. Professor Hilary Longhurst, University of Auckland, New Zealand, who gave the presentation on the day, said, “The kallikrein levels in the three patients fell by an average of 65% in eight weeks. The patient, who had edema up to 7 times a month, said , symptoms stopped after 10 weeks,” he said.

This result is the second time that CRISPR has been delivered directly to edit the gene. Last year, Intellia reported that CRISPR was injected into a patient with a rare genetic disease called ATTR amyloidosis to relieve symptoms such as neuralgia and numbness caused by amyloid buildup. However, it is not yet known whether the patients’ symptoms have finally improved.

Professor Longhurst said, “These results prove that the effects obtained by injecting CRISPR can be reproduced in vivo, not liverworm. Patients say that this CRISPR treatment has changed their lives.”