A little boy for the first time in history remodeled genes
Doctors in the United States were the first child to be diagnosed with severe genetic disorder shortly after birth with adapted or personalized genes. This, of course, gives hope for other people with similarly complicated genetic defects.
Boy Kj muldoon is now a good nine months old. After birth, they found that it has a rare and serious disease called CPS1 deficiency. The cause of the disease is a mutation of the enzyme gene crucial for liver function. This disease affects one to 1.3 million people. The affected is missing the liver enzyme, which converts the ammonia, which occurs in the natural breakdown of protein in the body, into the urea to be excreted in the urine. This causes the accumulation of ammonia, which can damage the liver and other organs such as the brain.
The future is not bright for patients, one of the options is liver transplant, but babies often suffer the consequences before they are large enough for surgery. Doctors thus suggested pioneering therapy this time to repair the child’s genome with a revolutionary tool-Crispr-Cas9 molecular scissors. For tools in 2020 Jennifer Doudna and Emmanuelle Charpentier received Nobel Prizes.
The operation of the CRISPR system consists of two parts: a small part of RNA and CAS9, an enzyme that acts like a DNA cut scissors, at the point where it is directed by a short RNA chain. The CRISPR-CAS9 was recognized in a bacterial « immune system » that allows bacteria to effectively defense against viral DNA. The principle of recognition and cutting of viral DNA has also been transferred from bacteria to other organisms for the purpose of genetic engineering. It can be programmed by cutting a specific genetic sequence at a given place. If the cell is also offered a suitable substitute for destroyed DNA, we get a genetically modified cell to its taste. Technology is not yet complete, researchers are trying to improve it even more precise and safer.
The boy’s father told the US media that he and his wife found themselves before an impossible decision. “Our baby is sick. We have to transplant his liver or give him this medicine that no one has received before, « he said of a serious trial Kyle muldoon. In the end, they agreed to treat the baby with an infusion created only for him to repair his or her genetic mutation – the wrong letters of DNA in the billions that make up the human genome.
“The drug is really only a boy of KJ, so the genetic versions he has are characterized only by him. This is personalized medicine, ”she said Rebecca Ahrens-Nicklasa member of a medical team specializing in pediatric genetics. As the doctor hopes, the boy is only the first of many to benefit from their work.
Experts from the Children’s Hospital in Philadelphia and the University of Pennsylvania developed therapy for half a year. The first dose was received by the boy in February and two more doses in March and April. Doctors have said he was feeling well, but they would have to follow him carefully all their lives. KJ spent the first few months of life in a hospital on a strict diet without protein, after genetic therapy they could already increase the amount of protein in his food and use fewer nitrogen removal medicines from his body.
International researchers have labeled this act as a medical milestone and claim that it indicates the possibility of treating many devastating genetic diseases by transforming impaired DNA shortly after the birth of the affected baby.
