For the first time in the world, a child with a rare disease receives a treatment that allows DNA modification
Published
propagandaThe American child is one of the first people who have a A rare genetic disorder is treated with KrisperPersonal genetic treatment that allows scientists DNA editing.
The child, known as KJ, was diagnosed shortly after Rare It is called a severe deficiency in Synthetty 1 (CPS1), which is calculated that affects One child per million children.
This disease causes a Increased ammonia levels in the bloodWhich can cause vomiting, low body temperature, lethargy, seizures, cerebral inflammation and coma. This disease is almost killed Half of children That suffers from this. Treatment usually consists of a low -protein diet until the child becomes old enough to TransplantBut this approach also carries health risks.
KJ started receiving a dedicated Krisper treatment when he was about six months old, which allowed his doctors Reducing your dependence on medicine To keep your ammonia levels low, according to the study published on Thursday in ” ‘New England Magazine for Medicine‘
“Although KJ will need accurate monitoring of the rest of his life, our initial results are Very promising“Dr. Rebecca Aharrenz-Nikas, director of the Filadelphia Hospital for Children (USA), where the operation was carried out.
Crisprr Genetic Edition Therapy Therapy
Krisper is working on a specific genome sequence, DNA cut accurately In those points and take advantage of the natural mechanisms to fix the cell to Cancel the stimulation of harmful gene or enter a corrected version. In this case, the treatment went to a defective gene in the KJ liver, and cut the DNA at the fine point where the error occurred to correct the enzyme.
According to researchers, the success of the procedure means that other patients can be treated with this Vanguard technology. “Although KJ is just a patient, we hope that the first is among many who benefit from a methodology that can adapt to the needs of each patient,” said Aharrenz-Nikas.
Expansion challenges
The KJ case is a promising evidence of the concept, but experts warn of efforts to develop Krisper treatmentsThey provide several challenges. Technically, the application of genetic liberation treatment to other organs instead of the liver is more difficult. Developing such treatment is also costly, because the total cost of the procedure It exceeds 700,000 eurosAlthough this number is approaching the standard liver transplant price, according to the team to the Associated Press.
Although the procedure helped improve the quality of KJ’s life, the research team could not fully evaluate Possible side effects From intervention for security reasons.
Dr. Alina Bans, Professor of Genetics at the University of Herfordshire (UK), who did not participate in this procedure added Most diseases they The result of different mutations in the genesMore than the errors that can be addressed through the fine versions made in CRISPR treatments.
“Krisper’s approach is It applies to any disease resulting from one change of nucleotides; However, the most common is that diseases are caused by various variables, so public strategies may be more effective than others very accurate, “Panse said in a statement.
