Thanks to Crispr-Cas9, the DNA cut-and-sew technique, it has been possible to 'repair' immune cells by correcting the genetic defects underlying rare diseases that affect newborns and which can be fatal: the technique has been successful both in mice, in which it completely cured the disease, and in human cells taken from affected children and grown in the laboratory.
The result, published in the journal Science Immunology, was obtained by a group of researchers led by the Max Delbrück Center for Molecular Medicine in Berlin.
The study highlights that the therapeutic mechanism works in principle, but clinical studies will be necessary to evaluate the safety and duration of the protective effect.
Some inherited genetic diseases cause an exaggerated immune response that can be fatal.
This is the case of familial hemophagocytic lymphohistiocytosis, or Fhl, a rare immune system disease that usually occurs in newborns and children under 18 months of age.
It is caused by various genetic mutations that prevent T cells, the 'soldiers' of the immune system, from functioning normally: if a child affected by Fhl contracts a virus, the T cells are unable to eliminate the intruder and the immune response goes out control, affecting the entire organism.
Researchers coordinated by Klaus Rajewsky therefore developed a new therapeutic strategy based on Crispr-Cas9, initially testing it on mice.
They took a small amount of blood from the animals to obtain T cells, corrected them and then injected them back into the mice: the immune response calmed down and their symptoms disappeared.
The authors of the study, which sees Xun Li as the first signatory, then moved on to blood samples taken from two sick children: the T cells of the newborns grown in the laboratory proved to work well and no longer provoke excessive immune responses.
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