First clinical trial of CRISPR infiltration in humans to "cure" a rare blood disorder

CRISPR, the revolutionary and controversial gene editing technique, has been used in a patient with debilitating blood disease, scientists said today.

The US and Swiss companies behind this transaction claim to be the first to use CRISPR on a human, regardless of its use in cancer patients in China.

The unidentified patient participating in the clinical trial suffers from beta-thalassemia, an inherited disease that inhibits a crucial gene, impeding its ability to produce hemoglobin, which is needed to push oxygen into the body.

Victims spend their lives undergoing blood transfusions to make up for the defect.

The Swiss biotechnology company CRISPR Therapeutics, supported by Vertex Pharmaceuticals of Boston, has attempted to cure the disease using the experimental technique of editing CRISPR DNA to reactivate the defective gene.

The companies say that they will soon do the same thing with another patient with sickle cell anemia, a blood disorder that causes excruciating pain.

Scientists hope that the treatment – an injection of a harmless virus to remove and remove the defect, followed by an injection of stem cells to insert a "healthy" copy of the gene – will be a treatment healing for life.

Although it is still too early to tell, this attempt alone has boosted the company's share price on Monday afternoon.

"Treating the first patient in this study marks an important scientific and medical milestone and the beginning of our efforts to fully realize the promise of CRISPR / Cas9 therapies as a new class of potentially transformative drugs for the treatment of serious illnesses," he said. Samarth Kulkarni, managing director of CRISPR Therapeutics, said.

Dr. David Altshuler, Scientific Director of Vertex, added, "Beta-thalassemia and sickle cell disease are serious life-threatening diseases, and we are evaluating ex vivo treatment with CTX001 to create a potential point-of-care cure. "

WHAT IS CRISPR?

CRISPR Cas9 is a powerful tool that can locate defective genes, cut them, leaving room for the insertion of a healthy gene.

It is a natural tool present inside some viruses, used to recognize and destroy their enemies: bacteria. These viruses carry "printing clichés" of their Nemesis bacteria and, when they see them, they spy on them in two, destroying them.

Scientists discovered this in the 1980s and, in the 1990s, Jennifer Doudna realized that it could be turned into a medicine tool. They could replace the Mugshot bacteria with a Mugshot DNA, sending the virus to hunt and destroy the defect in question.

Once there is a flaw in a DNA chain, simply run a healthy gene in the neighborhood and an army of cleaning enzymes will hurry to put it in place.

LABORATHON TO HUMANS – FIRST IN CHINA AND NOW IN THE UNITED STATES

Once CRISPR-Case 9 was discovered, it was clear that the potential was enormous – both positive and sinister.

But until last year, there was a general consensus (or hope) that human applications were a distant prospect.

Regulators have banned its use even in clinical trials, while scientists, theologians, and public health officials are trying to reach an ethical consensus.

It then appeared that oncologists from the Hangzhou Cancer Hospital in China, just west of Shanghai, were trying to do so as part of clinical trials on cancer patients. Scientists around the world were quietly worried, but intrigued by the results.

This calm was broken when Dr. He Jiankui of the Southern University of Science and Technology in Shenzhen said at a conference last November that he had used CRISPR-Case 9 for the modification d & # 39; embryos.

In the twins, Lulu and Nana, he used this technique to take the CCR5 gene. As a result, he said, they did not inherit HIV from their father. And he said that he has more patients lined up.

Predictably, global medical and scientific communities have panicked. Last week, neuroscientists studying the CCR5 discovered that gene modification could affect the brain – adding even more fuel to the fire.

And a few weeks later, it appeared that Shanghai oncologists had lost track of patients during their testing, which means they could never know the long-term impact of their changes.

WHY IS THE NEW CLINICAL TRIAL FRACTY AS "SAFER"?

You can modify genes in two ways: somatic and germinal.

Somatic gene editing involves the editing of a gene, once, in a non-heritable manner.

Genetic modification in the germ line would affect all cells and be passed on to future generations.

Dr. He's work makes us fear that this is a germline, which means that its effects may not be obvious for generations at a time, and we may not know how to turn the tide if the results are disastrous.

The new treatment of CRISPR Therapeutics and Vertex, called CTX001, is somatic, considered safer and benefiting from the green light of the regulators.

The news of the new clinical trial boosted stocks by 25% on Monday, a relief injection for investors in technology after another team, Sangamo Therapeutics, released disappointing results last week.