Staff Benioff Children’s hospital (UCSF Benioff Children’s Hospital) in Auckland for the first time in the United States tested a technique for genome editing directly in the body of a living person, and not by introducing him in advance for the edited cells. The doctors had to go on such a risky step because the patient was suffering from an incurable genetic disease, to save from which other methods it was not possible. It is too early to judge whether it was possible doctors to defeat the disease, as the first results of an experimental treatment should prove themselves in about two months.
The patient consented to the risky method of treatment was Brian Maddox, who suffers from hunter syndrome. This is one of the forms of mucopolysaccharidosis, a rare recessive X-linked genetic disorder resulting from deficiency of some enzymes and lead to accumulation of protein-carbohydrate complexes and fats in the cells. As a rule, it is manifest in humans only in the case when he inherits a defective gene from both parents. The disease gradually begins to affect different organs and tissues, and its signs appear already in the second year of life.
Previously, the hunter syndrome were treated solely symptomatic, with bone marrow transplantation and injection of artificial enzymes. Such supportive care costs to patients is expensive and costs more than $ 100,000 a year. The doctors at Oakland children’s hospital decided on an experimental treatment in the case of Brian Maddox only because it is for his life underwent more than 25 surgeries to remove all kinds of hernias, prorastanii bones in the spinal cord and other unpleasant procedures. Of course, the 44-year-old man was ready to do anything just to get a chance to recover.
The main difference of the experimental procedure was the fact that the genome edited directly in the body of the patient. Earlier, the edit has occurred over the cells extracted from the organism, or is grown separately. Tellingly, instead of today’s popular technology of gene editing CRISPR, the researchers used an alternative – Zinc Finger Nucleases. It involves the introduction into the organism neutralized virus carrying coded tool for genome editing. Tool is synthesized in the liver cells, and then begins to actively edit the genome of an organism. It is necessary that at least 1% of liver cells earned the right copy of the required gene. Otherwise, the treatment will be ineffective.
As we said earlier, the results of the experimental treatment can be assessed not earlier than two months. Himself Brian Maddox is well aware that this experiment could end in nothing, but still not losing hope that his life will finally become at least a little more comfortable and easier. According to him, for 15 years he waited for the scientists to learn to edit the human genome and will be able to save him. Well, we wish this man good luck and let’s hope that the treatment will really benefit him.
The first time scientists have directly edited the genome inside a living human
Sergey Grey