The first baby treated for rare metabolic disease with crispr gives thousands of patients | Health and well -being

Shortly after birth, KJ suffers from a very serious and very serious disease. His parents heard that he had a carbamile-phosphate synthetage (CPS1) deficiency, which affects one of 1,300,000 people. The absence is disrupted to the urea cycle, which is a physical process that eliminates excess ammonia that occurs when we process proteins. Generally, our body converts ammonia into urea, which we expel when urinating, but KJ does not have an enzyme in the liver who needs that conversion. When ammonia accumulates, it can cause crisis with irreparable nervous damage and death in 50% of young children. In some cases, it is possible to treat the disease with liver transplant, but many times children are very young or have already suffered a loss before surgery.

KJ had the misfortune at birth, but then he was good. After spending the first six months of his life at the hospital, Ammonia received the first dose of treatment that he changed his life in February this year. A team of Philadelphia Children’s Hospital urgently created a ritual ritual treatment, in just six months until the regulatory use for compassionate use and its application from diagnosis. Medicine Shadam definitely revised KJ’s DNA to correct the mutation that caused him ill. A few months later, the baby was healthy and at home, and the results of this success were presented in New Orleans (USA), presented at the annual meeting of the American and Cellular Therapy Society and published in the magazine on Thursday New England Journal of Medicine.

In order to repair the not well -worked genes, researchers They used crisprr technology. With this editing system they can correct single -letter defects (base) without completely cutting the DNA and create positive treatment for the baby. Treatment to work on liver cells directly maintained in the body of KJ, where you can thank some of the Small fat pellets. These fat nanoparticles have shown their effectiveness to introduce innovative medications into the body with messenger RNA vaccines for Covid and have made previously failed treatments due to lack of transport.

The baby received two infusions of treatment at the age of 7 and 8 months, and the results, according to doctors, were encouraging after seven weeks follow -up, although it was still less time. Thanks to the treatment, KJ was able to increase the amount of protein to eliminate the nitrogen and to reduce the amount of ammonia levels.

The study shows that this type of personalized genetic edition treatments can quickly develop and apply to protecting life affected by these very rare diseases and special variations. The authors believe that this approach will be used to correct hundreds of natural genetic defects that affect the liver and cause metabolic problems, but at the moment a child has only achieved success. In ads for SMC Spain, the research team in the translation synthetic biology, Mark Gayel and Pompeu Fabra University (UPF), which confirms that it is “great performance”, but “this correction is made in the liver; other clothes are now difficult to edit”.

“This moment has made this moment of progress in the genetic and cooperative edition between researchers and doctors, and it is the first to benefit from a method that meet the personal needs of every patient, although it is only the patient’s personal needs,” said Rebecca Ahrans for genetic treatment for genetic treatment for genetic treatment for genetic treatment for genetic treatment for genetic treatment. For treatment.

To date, genetic amendments such as CRISPR have been used for the treatment of general diseases that affect tens or hundreds of thousands of patients, such as two existing diseases Approved treatments For European and American regulators, Folsiform cell anemia and beta talasemia. However, personalized genetic editing treatments benefit a few of the patients with rare diseases in rare diseases, although they affect millions of people around the world together.

The results submitted today, they are only the first stage and should face technical or cost problems, which provides hope for these people. KJ’s father Kyle Muldun is a hope in a hospital announcement